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Addendum

Loss of the tumor suppressor SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)

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Article: e967148 | Received 12 Jul 2014, Accepted 09 Nov 2014, Published online: 03 Nov 2014

References

  • Ramos P, Karnezis AN, Craig DW, Sekulic A, Russell ML, Hendricks WP, Corneveaux JJ, Barrett MT, Shumansky K, Yang Y, et al. Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. Nat Genet 2014; 46:427-9; PMID:24658001; http://dx.doi.org/10.1038/ng.2928.
  • Kupryjanczyk J, Dansonka-Mieszkowska A, Moes-Sosnowska J, Plisiecka-Halasa J, Szafron L, Podgorska A, Rzepecka IK, Konopka B, Budzilowska A, Rembiszewska A, et al. Ovarian small cell carcinoma of hypercalcemic type - evidence of germline origin and smarca4 gene inactivation. a pilot study. Pol J Pathol: Off J Pol Soc Pathol 2013; 64:238-46; http://dx.doi.org/10.5114/pjp.2013.39331.
  • Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Nadaf J, Rivera B. Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. Nat Genet 2014; PMID:24658002
  • Jelinic P, Mueller JJ, Olvera N, Dao F, Scott SN, Shah R, Gao J, Schultz N, Gonen M, Soslow RA. Recurrent SMARCA4 mutations in small cell carcinoma of the ovary. Nat Genet 2014; PMID:24658004.
  • Young RH, Oliva E, Scully RE. Small cell carcinoma of the ovary, hypercalcemic type: a clinicopathological analysis of 150 cases. Am J Surg Pathol 1994; 18:1102-16; PMID:7943531; http://dx.doi.org/10.1097/00000478-199411000-00004
  • Clement PB. Selected miscellaneous ovarian lesions: small cell carcinomas, mesothelial lesions, mesenchymal and mixed neoplasms, and non-neoplastic lesions. Mod Pathol: Off J U S Can Acad Pathol Inc 2005; 18(Suppl 2):S113-29; http://dx.doi.org/10.1038/modpathol.3800313
  • Scully RE. Tumors of the ovary and maldeveloped gonads. Atlas of tumor pathology 2nd Series, Fascicle 16 Washington, DC: Armed Forces Institute of Pathology 1979.
  • Siegel R, Naishadham D, Jemal A. Cancer statistics, 2013. CA: Cancer J Clin 2013; 63:11-30; PMID:23335087
  • Estel R, Hackethal A, Kalder M, Munstedt K. Small cell carcinoma of the ovary of the hypercalcaemic type: an analysis of clinical and prognostic aspects of a rare disease on the basis of cases published in the literature. Arch Gynecol Obstet 2011; 284:1277-82; PMID:21298438; http://dx.doi.org/10.1007/s00404-011-1846-5.
  • McCluggage WG, Oliva E, Connolly LE, McBride HA, Young RH. An immunohistochemical analysis of ovarian small cell carcinoma of hypercalcemic type. Int J Gynecol Pathol: Off J Int Soc Gynecol Pathol 2004; 23:330-6; http://dx.doi.org/10.1097/01.pgp.0000139644.38835.9d
  • Martinez-Borges AR, Petty JK, Hurt G, Stribling JT, Press JZ, Castellino SM. Familial small cell carcinoma of the ovary. Pediatr Blood Cancer 2009; 53:1334-6; PMID:19621450; http://dx.doi.org/10.1002/pbc.22184
  • Stephens B, Anthony SP, Han H, Kiefer J, Hostetter G, Barrett M, Von Hoff DD. Molecular Characterization of a Patient's Small Cell Carcinoma of the Ovary of the Hypercalcemic Type. J Cancer 2012; 3:58; PMID:22315651; http://dx.doi.org/10.7150/jca.3872
  • Gamwell LF, Gambaro K, Merziotis M, Crane C, Arcand SL, Bourada V, Davis C, Squire JA, Huntsman DG, Tonin PN. Small cell ovarian carcinoma: genomic stability and responsiveness to therapeutics. Orphanet J Rare Dis 2013; 8:33; PMID:23433318; http://dx.doi.org/10.1186/1750-1172-8-33.
  • Otte A, Gohring G, Steinemann D, Schlegelberger B, Groos S, Langer F, Kreipe HH, Schambach A, Neumann T, Hillemanns P, et al. A tumor-derived population (SCCOHT-1) as cellular model for a small cell ovarian carcinoma of the hypercalcemic type. Int J Oncol 2012; 41:765-75; PMID:22581215
  • Foulkes WD, Clarke BA, Hasselblatt M, Majewski J, Albrecht S, McCluggage WG. No small surprise - small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour. J Pathol 2014; 233:209-14; PMID:24752781; http://dx.doi.org/10.1002/path.4362
  • Ulbright TM, Roth LM, Stehman FB, Talerman A, Senekjian EK. Poorly differentiated (small cell) carcinoma of the ovary in young women: evidence supporting a germ cell origin. Hum Pathol 1987; 18:175-84; PMID:3026945; http://dx.doi.org/10.1016/S0046-8177(87)80336-2
  • Peccatori F, Bonazzi C, Lucchini V, Bratina G, Mangioni C. Primary ovarian small cell carcinoma: four more cases. Gynecol Oncol 1993; 49:95-9; PMID:8387062; http://dx.doi.org/10.1006/gyno.1993.1093
  • Lamovec J, Bracko M, Cerar O. Familial occurrence of small-cell carcinoma of the ovary. Arch Pathol Lab Med 1995; 119:523-7; PMID:7605168
  • Longy M, Toulouse C, Mage P, Chauvergne J, Trojani M. Familial cluster of ovarian small cell carcinoma: a new mendelian entity? J Med Genet 1996; 33:333-5; PMID:8730291; http://dx.doi.org/10.1136/jmg.33.4.333
  • Distelmaier F, Calaminus G, Harms D, Strater R, Kordes U, Fleischhack G, Gobel U, Schneider DT. Ovarian small cell carcinoma of the hypercalcemic type in children and adolescents: a prognostically unfavorable but curable disease. Cancer 2006; 107:2298-306; PMID:16998935; http://dx.doi.org/10.1002/cncr.22213
  • McDonald JM, Karabakhtsian RG, Pierce HH, Iocono JA, Desimone CP, Bayliff SL, Ueland FR. Small cell carcinoma of the ovary of hypercalcemic type: a case report. J Pediatr Surg 2012; 47:588-92; PMID:22424359; http://dx.doi.org/10.1016/j.jpedsurg.2011.12.004
  • Vogelstein B, Papadopoulos N, Velculescu VE, Zhou S, Diaz LA, Jr., Kinzler KW. Cancer genome landscapes. Science 2013; 339:1546-58; PMID:23539594; http://dx.doi.org/10.1126/science.1235122
  • Hargreaves DC, Crabtree GR. ATP-dependent chromatin remodeling: genetics, genomics and mechanisms. Cell Res 2011; 21:396-420; PMID:21358755; http://dx.doi.org/10.1038/cr.2011.32
  • Neigeborn L, Carlson M. Genes affecting the regulation of SUC2 gene expression by glucose repression in Saccharomyces cerevisiae. Genet 1984; 108:845-58;
  • Stern M, Jensen R, Herskowitz I. Five SWI genes are required for expression of the HO gene in yeast. J Mol Biol 1984; 178:853-68; PMID:6436497; http://dx.doi.org/10.1016/0022-2836(84)90315-2.
  • Roberts CW, Orkin SH. The SWI/SNF complex–chromatin and cancer. Nat Rev Cancer 2004; 4:133-42; PMID:14964309; http://dx.doi.org/10.1038/nrc1273
  • Hendricks KB, Shanahan F, Lees E. Role for BRG1 in cell cycle control and tumor suppression. Mol Cell Biol 2004; 24:362-76; PMID:14673169; http://dx.doi.org/10.1128/MCB.24.1.362-376.2004
  • Strobeck MW, Knudsen KE, Fribourg AF, DeCristofaro MF, Weissman BE, Imbalzano AN, Knudsen ES. BRG-1 is required for RB-mediated cell cycle arrest. Proc Natl Acad Sci 2000; 97:7748-53; PMID:10884406; http://dx.doi.org/10.1073/pnas.97.14.7748
  • Huether R, Dong L, Chen X, Wu G, Parker M, Wei L, Ma J, Edmonson MN, Hedlund EK, Rusch MC. The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes. Nat Commun 2014; 5; PMID:24710217
  • Kadoch C, Hargreaves DC, Hodges C, Elias L, Ho L, Ranish J, Crabtree GR. Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy. Nat Genet 2013; 45:592-601; PMID:23644491; http://dx.doi.org/10.1038/ng.2628
  • Shain AH, Pollack JR. The spectrum of SWI/SNF mutations, ubiquitous in human cancers. PloS one 2013; 8:e55119; PMID:23355908; http://dx.doi.org/10.1371/journal.pone.0055119
  • Oike T, Ogiwara H, Tominaga Y, Ito K, Ando O, Tsuta K, Mizukami T, Shimada Y, Isomura H, Komachi M, et al. A synthetic lethality-based strategy to treat cancers harboring a genetic deficiency in the chromatin remodeling factor BRG1. Cancer Res 2013; 73:5508-18; PMID:23872584; http://dx.doi.org/10.1158/0008-5472.CAN-12-4593
  • Wilson BG, Helming KC, Wang X, Kim Y, Vazquez F, Jagani Z, Hahn WC, Roberts CW. Residual complexes containing SMARCA2 (BRM) underlie the oncogenic drive of SMARCA4 (BRG1) mutation. Mol Cell Biol 2014;
  • McKenna ES, Sansam CG, Cho YJ, Greulich H, Evans JA, Thom CS, Moreau LA, Biegel JA, Pomeroy SL, Roberts CW. Loss of the epigenetic tumor suppressor SNF5 leads to cancer without genomic instability. Mol Cell Biol 2008; 28:6223-33; PMID:18710953; http://dx.doi.org/10.1128/MCB.00658-08
  • Hasselblatt M, Nagel I, Oyen F, Bartelheim K, Russell RB, Schüller U, Junckerstorff R, Rosenblum M, Alassiri AH, Rossi S. SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis. Acta Neuropathol 2014; 128:453-6; PMID:25060813; http://dx.doi.org/10.1007/s00401-014-1323-x
  • Bultman S, Gebuhr T, Yee D, La Mantia C, Nicholson J, Gilliam A, Randazzo F, Metzger D, Chambon P, Crabtree G. A Brg1 Null Mutation in the Mouse Reveals Functional Differences among Mammalian SWI/SNF Complexes. Mol Cell 2000; 6:1287-95; PMID:11163203; http://dx.doi.org/10.1016/S1097-2765(00)00127-1
  • Bultman S, Herschkowitz J, Godfrey V, Gebuhr T, Yaniv M, Perou C, Magnuson T. Characterization of mammary tumors from Brg1 heterozygous mice. Oncogene 2007; 27:460-8; PMID:17637742; http://dx.doi.org/10.1038/sj.onc.1210664
  • Witkowski L, Lalonde E, Zhang J, Albrecht S, Hamel N, Cavallone L, May ST, Nicholson JC, Coleman N, Murray MJ, et al. Familial rhabdoid tumour 'avant la lettre'–from pathology review to exome sequencing and back again. J Pathol 2013; 231:35-43; PMID:23775540; http://dx.doi.org/10.1002/path.4225
  • Clement PB. Selected miscellaneous ovarian lesions: small cell carcinomas, mesothelial lesions, mesenchymal and mixed neoplasms, and non-neoplastic lesions. Mod Pathol 2005; 18:S113-S29; PMID:15492757; http://dx.doi.org/10.1038/modpathol.3800313
  • Hoffman GR, Rahal R, Buxton F, Xiang K, McAllister G, Frias E, Bagdasarian L, Huber J, Lindeman A, Chen D, et al. Functional epigenetics approach identifies BRM/SMARCA2 as a critical synthetic lethal target in BRG1-deficient cancers. Proc Natl Acad Sci U S A 2014; 111:3128-33; PMID:24520176; http://dx.doi.org/10.1073/pnas.1316793111
  • Fruhwald MC, Hasselblatt M, Wirth S, Kohler G, Schneppenheim R, Subero JI, Siebert R, Kordes U, Jurgens H, Vormoor J. Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome. Pediatr Blood Cancer 2006; 47:273-8; PMID:16206192; http://dx.doi.org/10.1002/pbc.20526