Duplicates were removed via Picard. 13PJD022), Shanghai Health Bureau Fund (grant no. Microtubule-associated serine-threonine (MAST) kinase is associated with gene rearrangement in breast cancer and related pre-invasive lesions [54], while Gene Set Enrichment Analysis (GSEA) indicated that NSUN4 was associated with methylation and demethylation processes in hepatocellular carcinoma [55]. 2022;27:71. https://doi.org/10.1186/s11658-022-00378-w. Li J, Jiang M, Yu Z, Xiong C, Pan J, Cai Z, et al. Chromosoma. GO and pathway enrichment analysis showed that genes with switch from compartment A to B were mostly associated with defense response to virus, Ras protein signal transduction, cell–cell junction, and cell cycle arrest, while genes with switch from compartment B to A were associated with negative regulation of type I interferon production, DNA biosynthetic process, cell proliferation, which was involved in metanephros development, and positive regulation of DNA biosynthetic process (Fig. We observed differential patterns of genomic aberrations surrounding the TADs and identified more newly established three-dimensional chromatin structural domains in poorly differentiated TC. Bakamjian et al. En la mayoría de los casos, el primer síntoma es un bulto en el cuello. Nature. https://doi.org/10.1093/clinchem/hvz004. 7A–N). Thus, cells can dynamically use histone alterations to regulate their gene expression. A high proportion of TCs harbor mutations in the MAPK pathway, which has become a focal point for therapeutic intervention in TC [12]. To understand the effects of SVs on boundaries of TADs in human cancers, we used 904 and 872 high-confidence somatic SVs breakpoints identified by Delly2 in ATC (8305C) and both PTC (BCPAP and TPC-1) cell lines and then classified SVs into nine classes, including inversions, duplications, deletions, or complex rearrangements as described previously [53] (Fig. This carcinoma shows fast growth, strong invasiveness in the adjacent tissues, and a high rate of metastasis into the regional lymph nodes (42%) and distant organs (32%) [3, 5, 9]. We did not perform selection of fragment size. CNVs might be another confounding factor for the fold changes of gene expressions observed. Los tratamientos disponibles para las neoplasias son resección quirúrgica, qui-mioterapia, hormonoterapia y radioterapia. Gene expression was significantly synchronized, and orchestrated by complex epigenetics and regulatory elements. Treasure Island: StatPearls Publishing Copyright © 2022, StatPearls Publishing LLC. 7A), while loss events or shifted TADs had the weakest signals. 2021;8: 638345. D–I Spatial proximity of co-mutated gene pairs in TAD. 6A). The authors would like to thank Mr. Arie Sleutel for his support during the linguistic revision of this manuscript. J Med Case Reports 17, 8 (2023). The dissection is made in a subfascial plane and proceeds until the pedicle of the internal mammary artery is identified. D Differences in TAD changes between ATC (8305C), PTC (BCPAP and TPC-1), and normal thyroid cell lines. 6). Since cancer is frequently correlated with genome alterations such as aneuploidy, it is vital to analyze CNV to depict the disorganization of the cancer genome and determine its functional consequences. The flap is dissected from lateral to medial and from distal to cranial. Both ATC and PTC harbor a variety of genetic alterations, including mutations of BRAF (V600E), TERT promoter, TP53, and RAS [10, 11]. Anaplastic thyroid carcinoma (ATC), also known as undifferentiated carcinoma, is a rare, highly aggressive malignant tumor accounting for 2% to 3% of all thyroid gland neoplasms. SVs that influenced the boundaries of TADs were identified as ones that spanned the whole length of a boundary (around 75 kb) or within the whole TADs. To explore epigenetic mechanisms, enrichment of regulatory elements and motifs from various cell types that have previously been profiled by the Encyclopedia of DNA Elements (ENCODE) consortium and the Roadmap Epigenome project, which are involved in DNA methylation, chromatin remodeling, regulation by noncoding RNAs, and binding of regulatory proteins, and that include A 11-zinc finger protein (CTCF), B enhancers, C H3K27ac, D H3K4me1, E H3K4me3, and F H2az, was analyzed around the TAD boundaries. 2016;388:2783–95. We found that CTCF, enhancers, and H3K4me1 signals were significantly enriched in de novo TAD changes in ATC cells (Fig. For the majority of ATC and PTC cells, the HOXA10 and HIF2α signals close to the transcription start sites of CoMut genes within TADs were significantly stronger than those at the background. PLoS ONE. We observed that HOXA10 and HIF2 genes were commonly found surrounding the TADs with CoMut genes. These observations led us to hypothesize that such regulators might be key factors that contributed to gene co-mutations via mediations of high-order chromatin conformation, for instance, via forming long-range loops of chromatin or insulating epigenetic signals. Then, we performed GO and KEGG/Reactome enrichment analysis for subtype-shared or subtype-specific CNV-involved genes. Bar plots of the TAD counts A without or (B) with CoMut hotspots over each chromosome in ATC (8305c), PTC (BCPAP), and PTC (TPC-1) cells. Giuffrida D, Gharib H. Anaplastic thyroid carcinoma: current diagnosis and treatment. Both PTC cells also had fewer common CNVs (two shared losses and two shared gains). Combining RNA-seq data with A/B compartment switch between normal and ATC cells, gene expression exhibited the same propensity of switch from compartment A to B; 267 (15.5%) of total downregulated genes showed A-to-B compartment switch and 360 (19.6%) of total upregulated genes showed B-to-A compartment switch. Cabanillas ME, McFadden DG, Durante C. Thyroid cancer. Langenbecks Arch Surg. Because of the histopathological diagnosis, chemoradiotherapy was administered. Para obtener más información sobre tratamiento, exámenes de detección, estadísticas, investigación y ensayos clínicos relacionados con el cáncer de . Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. RNA was fragmented and purified, double-stranded cDNA was synthesized, and indexed Illumina libraries were prepared as described for the RNase H libraries, except that 12 cycles of PCR were performed. A–F Density of distance between gene regulatory features and heterochromatic states around TAD boundaries. 2004;293:144–53. 2020;20:437–54. ; 2022. Computed tomography of the neck showed a widespread (130 × 73 mm) inhomogeneous mass in the thyroid lodge, with compression of the right jugular vein and extended to the right mediastinum to the supra-aortic vessels (Fig. 2021;26:39. https://doi.org/10.1186/s11658-021-00282-9. 2017;30:1527–37. Moreover, shared signatures of TAD boundaries around our boundary calls were observed across both types of TC cells. A/B compartment switches between TC and normal cells exhibited specific gene expression patterns, which were in accordance with RNA-seq data. Exploring neuronal mechanisms involved in the scratching behavior of a mouse model of allergic contact dermatitis by transcriptomics. No hay acuerdo con respecto al mejor tratamiento. A thin and pliable fasciocutaneous flap is well suited to anterior neck defects—this flap is based on the deltopectoral axis [7]. The distance of CNV breakpoints for each CN status (0, 1, 3, 4, or 5) between TAD boundaries was shorter than that of location-randomized breakpoints (Fig. https://doi.org/10.1038/nature13415. Luo W, Liang P, Zhao T, Cheng Q, Liu H, He L, et al. 1D–I). 2A, B. A total of 30,539, 25,335, and 29,647 A compartments (open state) were identified in ATC, PTC, and normal cells, respectively; a total of 26,420, 31,614, and 27,314 B compartments (closed state) were identified in ATC, PTC, and normal cells, respectively (Fig. Es menos predecible que otros tipos de cáncer de tiroides; sin embargo, una cosa que todos los sobrevivientes a 1A–C, Additional file 2: Fig. 2014;512:449–52. Khalili-Tanha G, Moghbeli M. Long non-coding RNAs as the critical regulators of doxorubicin resistance in tumor cells. In this study using data newly generated by ourselves, we comprehensively analyzed four representative cell lines derived from human PTC (BCPAP and TPC-1 cells), ATC (8305C cells), and normal thyroid tissues to reveal the spatial gene alterations and regulations in TC. Complex rearrangements such as chromothripsis and other changes that cover SV break-ends with concomitant inversions, deletions, or duplications are responsible for disruption of chromatin folding domains [63]. Roix JJ, McQueen PG, Munson PJ, Parada LA, Misteli T. Spatial proximity of translocation-prone gene loci in human lymphomas. Pathological examination at that time showed thyroid goiter with signs of mesenchymal tumor. 2015;16:214. https://doi.org/10.1186/s13059-015-0768-0. However, the ATC patients’ median overall survival is 4–8 months [2]. CNV breakpoints significantly overlapped with TAD boundaries in both TC subtypes. The distances between CNV breakpoints and their closest TAD boundaries were significantly shorter than location-randomized breakpoints (Kolmogorov–Smirnov test, P < 2.2 × 10−16; Fig. 51703126, 51673116, and 11775143), Shanghai Pujiang Program (grant no. 2015;31:357–72. High-throughput chromosome conformation capture (Hi-C) data analysis revealed several boundaries, ranging from 5647 to 5942 and containing different cell types (8305C, BCPAP, and TPC-1, respectively) (Additional file 2: Fig. Cell. Yu BT, Hsieh CH, Feng GM, Jeng SF. Differences in genomic alterations between ATC and PTC need to be further revealed. The baselines of TAD changes in ATC and PTC compared with those in normal cells are shown in Fig. Lorenzo et al. . 7H). Most cases (about 80%) are diagnosed in later stages and already have disease progression to the surrounding tissue and organs and distant metastasis [2, 6]. Head Neck. 2C, F). S2A–F). Article ZQ0305 and BCPAP for PTC, cat. Sci Rep. 2016;6:35270. https://doi.org/10.1038/srep35270. The distribution of SV subtypes in A ATC (8305C), B PTC (BCPAP), and C PTC (TPC-1) cells. We obtained the consensus SV calls and annotations of every variation (inversions, duplications, deletions, and complex rearrangements). Xing M. Molecular pathogenesis and mechanisms of thyroid cancer. Reversely immortalized mouse salivary gland cells presented a promising metabolic and fibrotic response upon BMP9/Gdf2 stimulation. The mammalian genome comprises actively transcribed compartment A (also called open state) and inactive compartment B (also called closed state) [43, 44]. We examined the regulatory elements surrounding the TADs with CoMut genes that might be involved in cancer initiation and/or progression. Therefore, we chose the IMAP island flap. https://doi.org/10.1016/j.gpb.2016.01.002. The three-dimensional organization of mammalian genomes. 3C). Spatial partitioning of the regulatory landscape of the X-inactivation centre. H.W., L.H., L.L.Z., S.L., and J.C. conceived and designed the study, wrote the original draft, and critically reviewed and edited the manuscript; L.L.Z., L.H., M.M.X., W.C.Z., Z.L.C., and C.Y.Z. 2020;11:102. doi:https://doi.org/10.3389/fendo.2020.00102. Cáncer de tiroides. Cáncer de tiroides anaplásico (indiferenciado) Todos los cánceres tiroideos anaplásicos se consideran en etapa IV, lo que refleja el mal pronóstico para las personas con este tipo de cáncer. E–J CNV breakpoints associated with TAD boundaries. Rao SS, Huntley MH, Durand NC, Stamenova EK, Bochkov ID, Robinson JT, et al. En estos casos, los tratamientos se centran en ralentizar su progresión y mantenerlo lo más cómodo posible. He Y, Yu X, Li J, Zhang Q, Zheng Q, Guo W. Role of m(5)C-related regulatory genes in the diagnosis and prognosis of hepatocellular carcinoma. Gene expression was orchestrated by complex epigenetics and regulatory elements. Liu TR, Xiao ZW, Xu HN, et al. Thyroid cancer cell lines: an overview. Genome Biol. N The significance of differences between two TAD change modes (de novo versus shifted, de novo versus loss, and loss versus shifted) for epigenetic markers are visualized using heat maps. Overall, the incidence of TC is increasing, which is primarily due to an increase in the incidence of papillary TC (PTC), a subtype of differentiated TC [5]. Spatial co-mutation hotspots were enriched around topologically associating domains (TADs) in TC. Cell Mol Biol Lett. SHWRS[2020]-087), and Hospital Funded Clinical Research, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine (grant no. For each given pair of mutated genes that were located on the same chromosome, the linear nucleotide distance was obtained. Medicamento para el cáncer de tiroides anaplásico y compartir calificaciones a nivel de país y región; La notable tendencia familiar del diseño del paisaje de combate; Medicamento para el cáncer de tiroides anaplásico Tendencias que implican análisis técnico y de productos, así como factores impulsores y limitaciones. El propósito de este estudio es averiguar qué efectos, buenos y/o malos, tiene un fármaco llamado vemurafenib, ya sea solo o combinado con otro . The operation was carried out under general anesthesia. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. We found that active promoter marks, CTCF-binding sites, and heterochromatin states were mostly enriched at the boundaries in both ATC and PTC, and that those markers in ATC had significantly stronger signals than in PTC (P < 10–15) (Fig. Head Neck. Seventy span-SV and 537 within-SV events were identified in ATC, and 49 span-SV and 510 within-SV events were identified in PTC (Fig. In 2020, more than 586,000 new cases of TC and about 44,000 new deaths associated with TC were estimated [3, 4]. Thyroid cancer (TC) remains one of the most common malignancies of the endocrine system, and is the fifth most common cancer in women [1, 2]. Cell Mol Biol Lett. PubMed Google Scholar. Each of the poly(A) libraries were sequenced using an Illumina HiSeqX. TADs with short range were more abundant in ATC than PTC. p53 constrains progression to anaplastic thyroid carcinoma in a Braf-mutant mouse model of papillary thyroid cancer. These findings indicated that ATC had more changes in dynamic regulations that interplayed with TADs. All authors read and approved the final manuscript. The epidemiological landscape of thyroid cancer worldwide: GLOBOCAN estimates for incidence and mortality rates in 2020. The authors declare that they have no competing interests. Due to the massive invasion of the tumor mass into surrounding tissue, the patient underwent intralesional excision, including the affected skin. The incidence and survival analysis for anaplastic thyroid cancer: a SEER database analysis. Article Li J, Yuan J, Li Y, Wang J, Gong D, Xie Q, et al. Es más común en mujeres que en hombres. . 2020;11:1796. https://doi.org/10.1038/s41467-020-15520-5. The 10 × 5 cm skin defect of the neck was successfully reconstructed with an internal mammary artery perforator island flap. 8A and Additional file 2: Fig. The present case illustrates that palliative resection of the tumor and plastic reconstruction of the neck defect promoted other treatments such as radiation or chemotherapy due to the improved local situation. El cáncer anaplasico afecta principalmente a personas cuyas edades oscilan entre 65 y 75 . Risca VI, Greenleaf WJ. 2 Histologically, the 2 most frequent subtypes of thyroid cancer are papillary thyroid cancer (PTC) and follicular thyroid cancer (FTC), 1, 3 both derived from follicular epithelial cells and collectively referred to as differentiated thyroid . 2019;10:2764. https://doi.org/10.1038/s41467-019-10680-5. Purpose To present our real-life experience with dabrafenib and trametinib (D-T) treatment in patients with BRAF V600E-mutated ATC in Argentina. https://doi.org/10.1038/nrc3431. Statistical analyses were performed using R 4.0.2 (https://www.r-project.org/) if not otherwise specified, and two-sided P value < 0.05 indicated statistical significance. Etapa AJCC. Provided by the Springer Nature SharedIt content-sharing initiative. no. We referred to SVs that occurred across TADs as span-SVs, while SVs that occurred within TADs were referred to as within-SVs. Utilizamos las herramientas de diagnóstico más modernas, investigación de vanguardia y conocimientos avanzados sobre cáncer de tiroides para ayudarlo a obtener una salud . 2012;485:376–80. The tumor was identified as nonresectable, and palliative resection of the tumor mass was planned. 2016;11(10): e0164840. The donor site was closed primarily. Nat Commun. Furthermore, we investigated ATC and PTC that specifically contained CoMut events within TADs boundaries, by comparing the TAD blocks between different TC subtypes. Endocr Pathol. Muchos casos se deben a una . Anyone you share the following link with will be able to read this content: Sorry, a shareable link is not currently available for this article. https://doi.org/10.1007/s00412-016-0593-6. 4D. https://doi.org/10.1038/nature11082. https://doi.org/10.1016/j.wjorl.2018.05.006. Fudenberg G, Getz G, Meyerson M, Mirny LA. Nthy-ori-3-1 cells were cultured in high-glucose DMEM (Sigma) containing 10% FBS (Gibco BRL) and 1% penicillin and streptomycin (PS). The percentage of SVs with length ≤ 2 Mb within TADs (solid) and across TADs (shaded) for discrepant types of SVs was analyzed. https://doi.org/10.1073/pnas.0900912106. Meaburn KJ, Misteli T, Soutoglou E. Spatial genome organization in the formation of chromosomal translocations. Oncogenesis. We observed boundaries of TADs from 50-kb-binned Hi-C data for every cell type with a z-score for interaction. 2009;106:5831–6. SAMtools (v0.1.19) was used to sort and index the resulting alignments (BAM). Cell Mol Biol Lett. Most flaps are based on the internal mammary perforator at the second or third intercostal space. We obtained three representative empirical distributions by concatenating the frequencies of contact of all the co-mutated gene pairs that occurred in two TC cell lines on the basis of Hi-C and WGS datasets. https://doi.org/10.1038/nmeth.3104. Anaplastic thyroid carcinoma (ATC) is a rare cancer accounting for 40% of thyroid cancer-specific deaths. Journal of Medical Case Reports Although BCPAP cells had 99.81% mapped reads, the TERT C228T variant was not covered by the WGS analysis of BCPAP cells as expected. A CNV gain and loss events in ATC (8305C) and both PTC (BCPAP and TPC-1) cell lines; B intersection plot of multiple subgroups of CNV statuses in ATC and both PTC cells; C, D significantly enriched Gene Ontology (biological functions) in genes associated with ATC-specific CNVs gain and loss events. El cáncer tiroideo anaplásico representa alrededor del 2% de todos los tipos de cáncer tiroideo y es más frecuente en las mujeres mayores. 2014;111:E1600–9. Front Endocrinol. 2011;29:1109–13. The exophytically growing, bad-smelling massive exulcerated tumor caused an esthetic defect, neck mobility restrictions, and . Epigenetic regulation of gene expression in cancer: techniques, resources and analysis. Co-mutations of various somatic cancer-related genes are prevalent; however, the mechanisms underlying these genetic events in TC remain to be clarified. 2014;11:1141–3. Fortin JP, Hansen KD. Gene Ontology was used to perform enrichment analysis on gene sets. 1 In spite of increasing incidence over the years, mortality has remained stable. S3A, B). With discrepant differentiation, papillary thyroid cancer (PTC) and anaplastic thyroid cancer (ATC) differ greatly in characteristics and prognosis. 2022;10:264–72. Taberlay PC, Achinger-Kawecka J, Lun AT, Buske FA, Sabir K, Gould CM, et al. We aimed to reveal the spatial gene alterations and regulations between the two TC subtypes. Cell. The preparation of Hi-C chromatin conformation assay library, which comprises permeabilization of cells, fixation of chromatin, DpnII digestion, biotin labeling, ligation, and reversal of crosslink, was done as previously described by van Berkum et al. It was found that CNV breakpoints significantly overlapped with boundaries of TADs in all cancer subtypes (Fig. A high-quality CoMut met stringent criteria (QUAL flag = “PASS”) for somatic mutations. (Fig. The flap can be in a relatively short time harvest; the inset is simple [23]. Para que se diagnostique esta enfermedad se deben realizar varios exámenes de sangre y de . El cáncer de tiroides es relativamente raro, en comparación con otros cánceres. Cáncer Diferenciado de Tiroides; Cáncer Anaplásico de Tiroides; Cáncer Medular de Tiroides Viviendo con cáncer . 11% de casos, común en mujeres de 40-60 años y con deficiencia de yodo. Nat Struct Mol Biol. Part of DELLY and Lumpy algorithms were run to identify consensus structural variations (SVs) for cell lines. Download Citation | On Jan 1, 2023, Sandra Herranz-Antolín and others published Carcinoma anaplásico de tiroides con supervivencia prolongada. Estos impiden el correcto funcionamiento de la glándula tiroidea y en Perú, desde el 2005 la aparición de nuevos casos se incrementó en un 20%, donde 3 de cada 4 pacientes son mujeres, con mayor incidencia entre los 25 y 65 años. Privacy 20124016), “Biomedical-engineering Cross Fund” of Shanghai Jiao Tong University (grant nos. Spatial chromatin structure is intricately linked with somatic aberrations, and somatic mutations of various cancer-related genes, termed co-mutations (CoMuts), occur in certain patterns during cancer initiation and progression. Department of Nuclear Medicine, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China, Linlin Zhang, Miaomiao Xu, Hongliang Fu, Yufei Ma, Shuo Huang, Sheng Liang & Hui Wang, Department of Nuclear Medicine, Shanxi Bethune Hospital (Shanxi Academy of Medical Sciences), Taiyuan, 03003, China, Department of Oncology, Xin Hua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, 200092, China, Department of Respiratory Medicine, XinHua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China, BioGenius Bioinformatics Institute, Shanghai, 200050, People’s Republic of China, Department of Oncology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China, Medical Center on Aging of Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China, You can also search for this author in Provided by the Springer Nature SharedIt content-sharing initiative. no. Google Scholar. 5). Unmated reads were removed; only read pairs with both reads aligning to the genome were retained. La terapia con yodo radiactivo no se usa para tratar el cáncer de tiroides medular. Cookies policy. PLoS ONE. The IMAP flap is a reliable option that provides well-vascularized tissue ideal for reconstructing the lower neck where thin, pliable tissue is needed. Defects of the neck after palliative resection of exulcerated tumors could be reconstructed with different skin flaps. 2017;169:780–91. Kagohara LT, Stein-O’Brien GL, Kelley D, Flam E, Wick HC, Danilova LV, et al. Manage cookies/Do not sell my data we use in the preference centre. We found that, for the majority of ATC and PTC cells, the HOXA10 and HIF2α signals near the TSSs of CoMut genes within TADs were significantly stronger than those at the background. All authors read and approved the final manuscript. These modifications correlated with closed or open conformations of chromatin and drove differential access of genes to regulatory proteins and transcription factors. We generated a common set of boundaries among discrepant types of cells. 2013;44:2837–44. Cell Mol Biol Lett. Somatic SNVs were identified by Mutect 2. These phenomena showed that the genomic characteristics of boundaries of TADs across discrepant human TC subtypes might dynamically regulate the specific gene activations or inhibitions related to poor prognosis in patients with ATC. Eur Thyroid J. Patterns of treatment failure in anaplastic thyroid carcinoma. Publicaciones recientes. The palliative resection of advanced ATC with skin invasion can lead to a significant skin defect on the neck, making direct closure impossible. The internal mammary artery perforator flap: an anatomical study and a case report. IMAP was islanded, the narrow skin bridge between the donor site and the neck wound was divided, and the flap rotated clockwise through 120° along the vascular axis to fill the neck defect. C–F Spatial proximities of co-mutated gene clusters in TAD based on Hi-C data. 8E, F). Gene deregulation and spatial genome reorganization near breakpoints prior to formation of translocations in anaplastic large cell lymphoma. Google Scholar. Anaplastic thyroid cancer. Koyama S, Miyake N, Fujiwara K, et al. Clin Oncol (R Coll Radiol). Apart from these therapeutic modalities, second-line treatments, including tyrosine kinase inhibitors, have been explored in ATC patients and resulted in acceptable treatment responses [10, 12,13,14]. With discrepant differentiation, ATC and PTC differ greatly in characteristics and prognosis. Descripción de las etapas del cáncer tiroideo anaplásico* IVA. Gene expressions associated with TAD A/B compartment switches. World J Surg Oncol. In addition to considerable local invasion, anaplastic thyroid carcinoma often presents . The contributions of our findings to precision cancer medicine regarding individualized prediction of survival and treatment benefits also warrant further exploration. A–C SV subtypes identified on the basis of WGS. statement and (3) The final concentration of biotinylated dCTP during labeling was changed to 0.025 mM. volume 28, Article number: 1 (2023) Gene functioning and storage within a folded genome. CANCER DE TIROIDES El compromiso de la glándula tiroidea durante la aparición del cáncer es la primera causa de muerte en los pacientes con tumores endocrinos. Postoperative recovery was uneventful, and no surgical complications occurred in the postoperative period to hospital discharge on postoperative day 5. The O-glycosylating enzyme GALNT2 acts as an oncogenic driver in non-small cell lung cancer. We applied this bootstrapping method to calculate the significance of the overlaps between boundaries of TADs in the TC cell lines. Mishra A, Hawkins RD. Three-dimensional disorganization of the cancer genome occurs coincident with long-range genetic and epigenetic alterations. German Association of Endocrine Surgeons practice guideline for the surgical management of malignant thyroid tumors. CAS Plast Reconstr Surg. Gillis JA, Prasad V, Morris SF. Flap harvest and inset are simple, while primary closure of the donor site is a definite advantage in minimizing morbidity. 2013;398(3):347–75. Moreover, we characterized the conservation of the flanking sequences of the co-mutation signatures, and the disruption of signaling pathways by these driver mutations. 2017;33:265–89. Preoperative view of the patient with a large exophytically growing tumor mass with an invasion in the surrounding skin. These modifications are linked to open or closed chromatin conformation, and they influence gene access to regulatory proteins and transcription factors. Janz TA, Neskey DM, Nguyen SA, Lentsch EJ. https://doi.org/10.1038/s41568-020-0272-z. 2013;14:21727–40. Conrad W, Major MB, Cleary MA, Ferrer M, Roberts B, Marine S, et al. 2015;16:180. https://doi.org/10.1186/s13059-015-0741-y. Br J Plast Surg. Boundaries were determined to be regions that have local insulation minima along the diagonal of the Hi-C matrix. We used the Kolmogorov–Smirnov test to compare the spatial proximities of co-mutated gene pairs in the cancer cells and the backgrounds, and to compare the distances between CNV breakpoints and their closest boundaries of TADs with location-randomized breakpoints. El cáncer Anaplásico de tiroides es difícil de tratar porque es muy agresivo y rápidamente invade el cuello y hace metástasis a diferentes partes del cuerpo. CAS https://doi.org/10.3322/caac.21660. Lamina-associated domains: links with chromosome architecture, heterochromatin, and gene repression. The flap was marked so that the distal part of the flap was pulled towards the right shoulder and measured 7 × 16 cm. Our results may contribute to comprehensive understanding of the characteristics of genes associated with the prognosis and recurrence risk of TC. Cáncer de tiroides Anaplásico. YG2017QN63 and YG2019QNA39), Youth Medical Talents-Medical Imaging Practitioner Program (grant no. 3D). ZQ0874) and human TC cell lines (8305C for ATC, cat. Nature. FAM129B is a new regulator of Wnt/β-catenin-dependent phenotypes in melanoma cells [56], and TRUB2 is an age-associated cancer marker [57]. Sung H, Ferlay J, Siegel RL, Laversanne M, Soerjomataram I, Jemal A, et al. Neck defect after resection of the tumor mass temporarily covered with synthetic skin replacement. We found spatial co-mutation hotspots in both ATC and PTC (both BCPAP and TPC-1 cells), which are defined to be spatial chromatin loci at which certain genes that are spatially close to each other tend to be co-mutated during tumor initiation and progression. 5). 17CSY04). 2009;79(11):799–803. G–L Density of distance between gene regulatory features and TAD boundary. It accounts for < 2% of thyroid malignancies but has an extremely poor prognosis [1]. Barutcu AR, Lajoie BR, McCord RP, Tye CE, Hong D, Messier TL, et al. Mol Cancer. Sin embargo, menos de 2 . Int J Mol Sci. McFadden DG, Vernon A, Santiago PM, Martinez-McFaline R, Bhutkar A, Crowley DM, et al. 6B, C). 2018;29:1454–60. The skin flaps should be easy to manage and have fewer complications. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. Hi-C: a method to study the three-dimensional architecture of genomes. We found five TAD blocks with CoMut genes/events specific to ATC with certain mutation frequency, including CoMut pairs MAST/NSUN4, AM129B/TRUB2, COL5A1/PPP1R26, PPP1R26/GPSM1/CCDC183, and PRAC2/DLX4. Sati S, Cavalli G. Chromosome conformation capture technologies and their impact in understanding genome function. En la imagen se muestran otras partes del cuerpo donde es posible que el cáncer de tiroides se disemine, como los pulmones y los huesos. Springer Nature. We also compared the epigenetic markers and regulatory signatures around TAD boundaries in each TAD change mode (Fig. In contrast, 0.9% of genome regions showed the opposite switching from compartment B in normal cells to compartment A in ATC and were correlated with upregulated expression of genes. Using the R (version 4.0.1) package goProfiles (v3.11), for a specific gene set that contained “n” genes, the significance of having “r” genes that were involved in a certain function category was computed. To isolate poly(A) + mRNA, 10 µg of intact total RNA were prepared using the Dynabeads mRNA Purification Kit (Invitrogen) following the standard protocol of the manufacturer, except that an additional round of purification were performed before the final elution [46,47,48,49,50,51]. https://doi.org/10.1016/j.tig.2015.03.010. El cáncer se encuentra solo en la glándula tiroidea (tiroides), y el tumor es de cualquier tamaño. To investigate the correlation between somatic SNVs and spatial chromatin structure in TC, we performed data mining of somatic mutation and Hi-C datasets from cancer genomes. 2018;7(3):139–44. California Privacy Statement, 2012;485:381–5. S4). HCMV-miR-US33-5p promotes apoptosis of aortic vascular smooth muscle cells by targeting EPAS1/SLC3A2 pathway. J Plast Reconstr Aesthet Surg. Thirty-five TADs in ATC and 28 TADs in PTC were observed, exclusively (Additional file 2: Fig. Registro de ensayos clínicos. Front Surg. The postoperative recovery was uneventful. A Comparison of differential TAD blocks among ATC, PTC, and normal cell lines; B TAD changes (de novo, loss, shifted, and gain) between ATC and PTC cell lines; C Global TAD changes (de novo, shifted, and loss) in ATC and PTC versus normal, A–G Density of distance between regulatory features and changed TADs in ATC cells. 2012;150:12–27. Despite recent evidence on various genomic aberrations reported for TC, no studies describing the interactions and correlations between different variation subtypes have been identified. Even if surgery and other treatments get rid of your thyroid cancer cells, you'll need to go back to the doctor to check if the cancer has returned. Dralle H, Musholt TJ, Schabram J, et al. H–N Density of distance between regulatory features and changed TAD in PTC cells. 4E–G). In such cases, reconstructive plastic surgery is required to repair the neck defect. Correspondence to © 2023 BioMed Central Ltd unless otherwise stated. d-Borneol enhances cisplatin sensitivity via p21/p27-mediated S-phase arrest and cell apoptosis in non-small cell lung cancer cells and a murine xenograft model. 2007;58(2):156–61. An integrated analysis that combined Hi-C and whole-genome sequencing (WGS) data in ATC and PTC cells was applied. 2016;27:205–12. Furthermore, we also categorized SVs into subgroups according to length of SV range: SVs with genome length > 2 Mb and < 2 Mb (long-range and short-range SVs, respectively). At that time, the malignancy was diagnosed as an ATC. Four weeks post-surgery showing healed wound. The exophytically growing, bad-smelling massive exulcerated tumor caused an esthetic defect, neck mobility restrictions, and mental state deterioration. Surgery and radiotherapy improves survival in patients with anaplastic thyroid carcinoma: analysis of the surveillance, epidemiology, and end results 1983–2002. https://doi.org/10.1146/annurev-cellbio-100616-060531. CNVs and complex SVs may function in the TC genome by interplaying with TADs, and are largely different between ATC and PTC. BCPAP cells were cultured in the RPMI medium 1640 (Gibco BRL) that contained 1% PS (Gibco BRL), 10% FBS, 1% NEAA (Invitrogen), and 1% GlutaMAX (Invitrogen). Furthermore, the switches between the A and B compartments were correlated with specific subtypes of gene expression profiles in ATC compared with PTC. To address the above issues, we compared the spatial co-mutations between ATC and PTC cells via whole-genome sequencing (WGS) and high-throughput chromosome conformation capture (Hi-C). High order chromatin architecture shapes the landscape of chromosomal alterations in cancer. Smallridge RC, Copland JA. Cell Mol Biol Lett. 2018;17:49–63. Shi Y, Su XB, He KY, Wu BH, Zhang BY, Han ZG. Condensin-driven remodelling of X chromosome topology during dosage compensation. Early evolutionary divergence between papillary and anaplastic thyroid cancers. The contact frequency distribution of various CoMut hotspot mutation counts in TAD in (D) ATC (8305c), (E) PTC (BCPAP), and (F) PTC (TPC-1) cells, based on Hi-C data; the contact frequency scatter plot on various CoMut hotspot mutation counts in (G) ATC (8305c), (H) PTC (BCPAP), and (I) PTC (TPC-1) cells based on Hi-C data. Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer. Ann Oncol. Pizzato M, Li M, Vignat J, Laversanne M, Singh D, La Vecchia C, et al. Cell Mol Biol Lett. The ratio of short-range to long-range TAD block in ATC (8305C), PTC (BCPAP and TPC-1), and normal cell-lines is shown in Fig. Cantile M, Scognamiglio G, La Sala L, La Mantia E, Scaramuzza V, Valentino E, et al. (2) Following proteinase-K digestion of the sample after ligation, we digested RNA by adding 40 μg/ml RNAse-A for 1 h at 37 °C. We would like to thank Y.F.L. Cell Mol Biol Lett. The flap was constantly well-perfused (Fig. Since chromatin can be organized into contact domains or TADs that are hundreds of kilobases (kb) in size, the chromosome conformation capture techniques (3C) is a popular method to elucidate the spatial organization of chromatin involved in the long range of gene regulation and epigenomic changes in cancers [26,27,28,29]. Terms and Conditions, ATCs had more CNV losses overlapping with TAD boundaries, and noncoding SVs involved in intrachromosomal SVs, amplified inversions, and tandem duplication differed between ATC and PTC. Also, the deltopectoral flap requires skin grafting to the donor site defect because primary closure is difficult, which delays the healing process [16]. Previous research has suggested strong associations between spatial proximity and chromosome rearrangements, and reported that the deregulated genes lay near the spatial proximity of translocation, suggesting their role in the development of ATC and PTC [30,31,32,33,34]. 2010;22(6):486–97. By comparing TAD boundaries of ATC with those of PTC, 38.3% de novo changes, 23.8% loss changes, 20.6% shifted TADs, and 17.5% gained TADs were observed in ATC (Fig. Se analizaron los resultados del El tumor folicular tiene una mayor probabilidad de reaparecer y diseminarse. Sin embargo, a medida que avanza, puede causar signos y síntomas, como hinchazón en el cuello, cambios en la voz y dificultad para tragar. Normal human thyroid follicular epithelial cell line (Nthy-ori-3-1, cat. Para obtener información sobre el . Identification of internal mammary artery perforator vessels, Flap inset and primary closure of donor site with two percutaneous drains placed. Inactivation of genes related to cell cycle arrest pathway may impact tumor cell proliferation. Koshima I, Soeda S. Inferior epigastric artery skin flaps without rectus abdominis muscle. The PTC cell line TPC-1 (cat. Our findings suggested that duplication, inversion, and complex intrachromosomal SVs tended to take place within the same TAD, while amplified inversion tended to span more regions across discrepant TADs in PTC than in ATC. Internal mammary artery perforator flap for head and neck reconstruction. Vesely MJ, Murray DJ, Novak CB, Gullane PJ, Neligan PC. We comprehensively explored the interactions between chromatin conformations involved in the genetic regulation of SNVs, CNVs, and SVs, and interpreted the patterns of regulatory elements and epigenetic markers around the TADs boundaries. La causa del cáncer Anaplásico de tiroides es desconocida; sin embargo . Anaplastic thyroid carcinoma continues to rank as one of the most deadly diseases worldwide and carries a very poor prognosis. Figure S2. Dando como resultado hipotiroidismo e hipertiroidismo: "cuando detectamos una condición autoinmune, puede ser que tengamos anticuerpos para múltiples condiciones autoinmunes", asegura la doctora Hernández. Pocas veces las malignidades en tiroides requieren quimioterapia o tratamientos que afectan el sistema inmune, así que tener un diagnóstico previo de cáncer de tiroides y recibir levotiroxina no es un factor de riesgo para contraer COVID-19 o tener infecciones más severas 15-18, 20. We conducted paired-end RNA sequencing, and the number of reads for each of the cell lines was ~ 40 M (~ 6 Gb data). Differential expression of HOXA genes has been previously reported in TC [58, 59]. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. A–D ATC-specific copy number variations and annotated biological functions. We did WGS clustering using cBot, and performed paired-end sequencing with 150-bp read length on Illumina HiSeqX (HiSeq Control Software Version 3.3.39/RTA 2.7.1) with sequencing chemistry (v2.5). As the most frequent type of human thyroid carcinoma, PTC often has BRAF (V600E) point mutations, which could be a key target for the treatment of and an important marker for the diagnosis of most invasive PTCs [14, 15]. These suggested that somatic co-mutated gene pairs identified in ATC had greater trends of spatial proximities in chromatin structure (P < 0.05) (Fig. Anaplastic thyroid carcinoma (ATC) is a very rare malignant tumor, with an incidence of only 1–2 persons per million per year. Various coverage options by applying different flaps have been described in the literature. However, it remains largely obscure whether spatial chromatin structure is involved also in somatic aberrations. 2013;2013: 965212. https://doi.org/10.1155/2013/965212. Finally, we identified 35 ATC-specific TADs and 28 PTC-specific TADs (Fig. However, skin defects that form after tumor resection need reconstructive surgery, accelerating wound healing and facilitating the rapid application of local and systemic oncological therapy. Comuníquese. Accompanied with A/B compartment analysis, a total of 3562 genes (1727 downregulated and 1835 upregulated genes) and 2786 genes (1308 downregulated and 1478 upregulated genes) were differentially expressed in ATC and PTC, respectively (Fig. Overlapped CNVs in ATC (8305C) and PTC (BCPAP) cells involved 300 genes of loss events and 30 genes of gain events (Fig. We normalized the intrachromosomal 25-kb resolution using the Ruiz and Knight algorithm. Para ello, precisa del Yodo, que debemos aportarlo . Experience with the medially based deltopectoral flap in reconstructuve surgery of the head and neck. A score (signal of TAD) was calculated for every bin using this method, for the interactions with the nearby loci on average for a 50-kb genome window. Written informed consent was obtained from the patient for publication of this case report and any accompanying images. E–F GO and pathway enrichment analysis for genes switched E from compartment A to B, or F from compartment B to A. G Overall study scheme. El cáncer anaplásico de tiroides (CA) es raro (1); sin embargo, es una de las neoplasias más agresivas, con pobre pronóstico, siendo la causa de más del 50% de las muertes por CT (2). Por alrededor mitad De las personas que reciben un diagnóstico, el cáncer ya se ha diseminado a otros órganos. Springer Nature. Slc25a5 regulates adipogenesis by modulating ERK signaling in OP9 cells. 4E–G). Este tipo de tratamiento viene en forma de líquido o una cápsula. Cáncer de tiroides o agrandamiento previos: la mayoría de las personas diagnosticadas con cáncer de tiroides anaplásico también tenían otro tipo de cáncer de tiroides menos agresivo o un tiroides agrandado antes de desarrollar ATC. This reconstruction should not delay the further oncological treatment of the patients and should lead to satisfactory and fast healing. Existen varios tipos de cáncer de tiroides. Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. Además, existe una variedad de cáncer de tiroides como anaplásico, medular y papilar, por ejemplo. 2022;27:46. https://doi.org/10.1186/s11658-022-00333-9. Other TC cell lines need to be analyzed to further validate the findings. While the mutational landscape of ATC may somewhat resemble that of PTC, the clinical behavior of ATC and PTC is radically discrepant, which may be partly explained by the genetic differences. Takahashi Y, Hamada J, Murakawa K, Takada M, Tada M, Nogami I, et al. https://doi.org/10.1101/gr.201517.115. Cáncer Tiroideo Anaplásico www.thyca.org 6 1. TPC-1 cells were cultured in DMEM medium that contained 10% FBS (Gibco BRL) and 1% penicillin and streptomycin. 2014;159:1665–80. Regulatory elements, such as CTCF, enhancers, and H3K4me1 signals were significantly enriched in de novo TAD changes in poorly differentiated TC, while loss events or shifted TADs had the weakest signals. The skin infiltration and exophytic growth of ATC have a severe psycho-emotional impact on patients; they have difficulty fitting into society and family because of their deformity. While several genetic and epigenetic discrepancies have been identified between normal and TC tissues, alterations in higher-order chromatin organization during TC genesis and progression have not been fully characterized. https://doi.org/10.1016/j.cell.2012.06.013. Existen 4 tipos de cáncer de tiroides: papilar, folicular, medular y anaplásico. Only intrachromosomal SVs, amplified inversions, and tandem duplications spanning or within TADs were found in ATC and PTC (Fig. Terms and Conditions, Nat Rev Cancer. Complexity of TC genomes, which are highly organized by 3D genome-wide interactions mediating mutational and structural variations and gene activation, may have been largely underappreciated. The median age was 70 years, and 60% were male. 2006;59(6):644–52. performed data curation and formal analysis; S.H. La mayoría de los tipos crecen lentamente, aunque algunos tipos pueden ser muy . In contrast, we observed that span-SV events of amplified inversions occurred more frequently in PTC than in ATC (P < 0.05), whereas within-SV events of intrachromosomal SVs occurred more often in ATC than in PTC (P < 0.05). 2021;26:37. https://doi.org/10.1186/s11658-021-00281-w. Yu M, Ren B. Hi-C interaction heat-maps in ATC and PTC cell lines. Am J Transl Res. This promotes the fine-tuning expression of genes through regulating the contacts among located cis-regulatory elements [20]. TIG. Anyone you share the following link with will be able to read this content: Sorry, a shareable link is not currently available for this article. No es común, representando alrededor del 2% de las neoplasias malignas de tiroides, pero causa más del 40% de las muertes resultantes de cánceres de tiroides. Por otro lado, el galeno indicó que el cáncer de tiroides más común es el bien diferenciado que representa el 85 %, en tanto que el 15 % representa a otros tipos de cáncer de tiroides no tan comunes, tales como "el cáncer anaplásico, el linfoma, y otros, que como instituto hemos visto, pero con menor frecuencia". https://doi.org/10.1093/bfgp/elx018. https://doi.org/10.1016/s0140-6736(16)30172-6. A recent study suggested that CNVs might rebuild new TAD boundaries in cancer genome [62]; we therefore further explored the relationship between TADs and CNVs in TC, to depict the spatial disorganization of the cancer genome affected by CNV and interpret how CNV impacted TC via higher-order chromatin interactions. no. Genome Med. Apoptosis-promoting properties of miR-3074-5p in MC3T3-E1 cells under iron overload conditions. Cell Mol Biol Lett. 2013;2:134. https://doi.org/10.12688/f1000research.2-134.v2. The spatial proximities of the co-mutated gene pairs in the two TC types were significantly greater than in the gene-level and overall backgrounds, and ATC cells had higher TAD contact frequency with CoMuts > 10 compared with PTC cells.
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