A case of poorly differentiated thyroid carcinoma harboring an mutation

Euskirchen G, Auerbach RK, Snyder M (2012) SWI/SNF chromatin-remodeling factors: multiscale analyses and diverse functions. J Biol Chem 287(37):30897–30905. https://doi.org/10.1074/jbc.R111.309302

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shain AH, Pollack JR (2013) The spectrum of SWI/SNF mutations, ubiquitous in human cancers. PLoS ONE 8(1):e55119. https://doi.org/10.1371/journal.pone.0055119

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kadoch C, Hargreaves DC, Hodges C, Elias L, Ho L, Ranish J, Crabtree GR (2013) Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy. Nat Genet 45(6):592–601. https://doi.org/10.1038/ng.2628

Article  CAS  PubMed  PubMed Central  Google Scholar 

Landa I, Ibrahimpasic T, Boucai L, Sinha R, Knauf JA, Shah RH, Dogan S, Ricarte-Filho JC, Krishnamoorthy GP, Xu B, Schultz N, Berger MF, Sander C, Taylor BS, Ghossein R, Ganly I, Fagin JA (2016) Genomic and transcriptomic hallmarks of poorly differentiated and anaplastic thyroid cancers. J Clin Invest 126:1052–1066. https://doi.org/10.1172/JCI85271

Article  PubMed  PubMed Central  Google Scholar 

Abrams E, Neigeborn L, Carlson M (1986) Molecular analysis of SNF2 and SNF5, genes required for expression of glucose-repressible genes in Saccharomyces cerevisiae. Mol Cell Biol 6(11):3643–3651. https://doi.org/10.1128/mcb.6.11.3643-3651.1986

Article  CAS  PubMed  PubMed Central  Google Scholar 

Biegel JA, Zhou JY, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren B (1999) Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res 59(1):74–79

CAS  PubMed  Google Scholar 

Sévenet N, Sheridan E, Amram D, Schneider P, Handgretinger R, Delattre O (1999) Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. Am J Hum Genet 65(5):1342–1348. https://doi.org/10.1086/302639

Article  PubMed  PubMed Central  Google Scholar 

Agarwal S, Kakkar A, Damle NA, Kumar C, Sarangi J, Subudhi K, Jain D, Sabarwal M (2020) SMARCB1 (INI1)-deficient thyroid carcinoma: A novel entity expanding the spectrum of tumors with INI1 loss. Pathol Res Pract 216(4):152830. https://doi.org/10.1016/j.prp.2020.152830

Article  CAS  PubMed  Google Scholar 

Liu Z, Seshadri M, Gupta V, Papanicolaou-Sengos A, Merzianu M (2021) INI1-deficient thyroid carcinoma is an aggressive disease with epithelioid and rhabdoid phenotype: A case report, survey of INI1 expression in thyroid lesions and literature review. Head Neck Pathol 15(4):1246–1252. https://doi.org/10.1007/s12105-021-01338-0

Article  PubMed  PubMed Central  Google Scholar 

Kohashi K, Oda Y (2017) Oncogenic roles of SMARCB1/INI1 and its deficient tumors. Cancer Sci 108(4):547–552. https://doi.org/10.1111/cas.13173

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ho KC, Lee JJ, Lin CH, Leung CH, Cheng SP (2020) Loss of integrase interactor 1 (INI1) expression in a subset of differentiated thyroid cancer. Diagnostics 10(5):280. https://doi.org/10.3390/diagnostics10050280

Article  CAS  PubMed  PubMed Central  Google Scholar 

Maioli M, Cocchi S, Gambarotti M, Benini S, Magagnoli G, Gamberi G, Griffoni C, Gasbarrini A, Ghermandi R, Noli LE, Alcherigi C, Ferrari C, Bianchi G, Asioli S, Pignotti E, Righi A (2024) Conventional spinal chordomas: Investigation of SMARCB1/INI1 protein expression, genetic alterations in SMARCB1 gene, and clinicopathological features in 89 patients. Cancers (Basel) 16(16):2808. https://doi.org/10.3390/cancers16162808

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cruz-Tapia RO, Cano-Valdez AM, Meneses-García A, Correa-Arzate L, Molotla-Fragoso A, Villagómez-Olea G, Sevilla-Lizcano DB, Portilla-Robertson J (2024) Switch/Sucrose non-fermentable (SWI/SNF) complex—partial loss in sinonasal squamous cell carcinoma: A high-grade morphology impact and progression. Curr Issues Mol Biol 46(11):12183–12195. https://doi.org/10.3390/cimb46110723

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zund S, Califano I, Carrizo F, Quildrian S (2025) Neoadjuvant lenvatinib in a patient with invasive poorly differentiated thyroid cancer. https://doi.org/10.3332/ecancer.2025.1902. ecancermedicalscience 19:1902

Alshehri K, Alqurashi Y, Merdad M, Alghamdi A, Alzahrani A (2022) Neoadjuvant lenvatinib for inoperable thyroid cancer: A case report and literature review. Cancer Rep 5(2):e1466. https://doi.org/10.1002/cnr2.1466

Article  Google Scholar 

Molinaro E, Viola D, Viola N, Falcetta P, Orsolini F, Torregrossa L, Vagli P, Ribechini A, Materazzi G, Vitti P, Elisei R (2019) Lenvatinib administered via nasogastric tube in poorly differentiated thyroid cancer. Case Rep Endocrinol 2019:6831237. https://doi.org/10.1155/2019/6831237

Article  PubMed  PubMed Central  Google Scholar 

Gay S, Monti E, Trambaiolo Antonelli C, Mora M, Spina B, Ansaldo G (2019) Case report: Lenvatinib in neoadjuvant setting in a patient affected by invasive poorly differentiated thyroid carcinoma. Future Oncol 15(1):13–19. https://doi.org/10.2217/fon-2019-0099

Article  CAS  PubMed  Google Scholar 

Sasaki M, Kato D, Murakami K, Yoshida H, Takase S, Otsubo T, Ogiwara H (2024) Targeting dependency on a paralog pair of CBP/p300 against de-repression of KREMEN2 in SMARCB1-deficient cancers. Nat Commun 15(1):4770. https://doi.org/10.1038/s41467-024-49063-w

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shinohara H, Sawado R, Nakagawa M, Hattori A, Yamagata K, Tauchi K, Ito J, Kuwahara Y, Okuda T, Ogawa C, Kitabayashi I (2022) Dual targeting of EZH1 and EZH2 for the treatment of malignant rhabdoid tumors. Mol Ther Oncolytics 27:14–25. https://doi.org/10.1016/j.omto.2022.09.006

Article  CAS  PubMed  PubMed Central  Google Scholar 

Masudo K, Suganuma N, Nakayama H, Oshima T, Rino Y, Iwasaki H, Matsuzu K, Sugino K, Ito K, Kondo T, Nakamura Y, Yoshihara M, Masuda M, Miyagi Y (2018) EZH2 overexpression as a useful prognostic marker for aggressive behaviour in thyroid cancer. Vivo 32(1):25–31. https://doi.org/10.21873/invivo.11200

Article  CAS  Google Scholar 

Nakayama H, Saito N, Kasajima R, Suganuma N, Rino Y, Masudo K, Yamazaki H, Toda S, Sekihara K, Iwasaki H, Hoshino D (2023) Validation of EZH2 inhibitor efficiency in anaplastic thyroid carcinoma cell lines. Anticancer Res 43(3):1073–1077. https://doi.org/10.21873/anticanres.16252

Article  CAS  PubMed  Google Scholar 

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