SMARCA4-deficient primary bone sarcoma with “teratoid” features in a rhabdoid tumor predisposition syndrome patient

Author:

Sookdeo Jonathan,Wang Lu,Bishop Michael W.,Grieve LilyAnne,Perrino Melissa,Abdelhafeez Abdelhafeez H.,Khalatbari Hedieh,Malik Faizan,Koo Selene C.ORCID

Publisher

Springer Science and Business Media LLC

Reference18 articles.

1. Mardinian K, Adashek JJ, Botta GP, Kato S, Kurzrock R (2021) SMARCA4: implications of an altered chromatin-remodeling gene for cancer development and therapy. Mol Cancer Ther 20:2341–2351. https://doi.org/10.1158/1535-7163.MCT-21-0433

2. Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Nadaf J, Rivera B, Gilpin C, Castellsague E, Silva-Smith R, Plourde F, Wu M, Saskin A, Arseneault M, Karabakhtsian RG, Reilly EA, Ueland FR, Margiolaki A, Pavlakis K, Castellino SM, Lamovec J, Mackay HJ, Roth LM, Ulbright TM, Bender TA, Georgoulias V, Longy M, Berchuck A, Tischkowitz M, Nagel I, Siebert R, Stewart CJ, Arseneau J, McCluggage WG, Clarke BA, Riazalhosseini Y, Hasselblatt M, Majewski J, Foulkes WD (2014) Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. Nat Genet 46:438–443. https://doi.org/10.1038/ng.2931

3. Le Loarer F, Watson S, Pierron G, de Montpreville VT, Ballet S, Firmin N, Auguste A, Pissaloux D, Boyault S, Paindavoine S, Dechelotte PJ, Besse B, Vignaud JM, Brevet M, Fadel E, Richer W, Treilleux I, Masliah-Planchon J, Devouassoux-Shisheboran M, Zalcman G, Allory Y, Bourdeaut F, Thivolet-Bejui F, Ranchere-Vince D, Girard N, Lantuejoul S, Galateau-Salle F, Coindre JM, Leary A, Delattre O, Blay JY, Tirode F (2015) SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas. Nat Genet 47:1200–1205. https://doi.org/10.1038/ng.3399

4. Kohashi K, Yamamoto H, Yamada Y, Kinoshita I, Taguchi T, Iwamoto Y, Oda Y (2018) SWI/SNF Chromatin-remodeling complex status in SMARCB1/INI1-preserved epithelioid sarcoma. Am J Surg Pathol 42:312–318. https://doi.org/10.1097/PAS.0000000000001011

5. Rooper LM, Uddin N, Gagan J, Brosens LAA, Magliocca KR, Edgar MA, Thompson LDR, Agaimy A, Bishop JA (2020) Recurrent loss of SMARCA4 in sinonasal teratocarcinosarcoma. Am J Surg Pathol 44:1331–1339. https://doi.org/10.1097/PAS.0000000000001508

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