Small cell carcinoma of the ovary of hypercalcemic type: a case report

McDonald, John M.; Karabakhtsian, Rouzan G.; Pierce, Heather; Iocono, Joseph A.; DeSimone, Christopher P.; Bayliff, Sherry; Ueland, Frederick R.

doi:10.1016/j.jpedsurg.2011.12.004

Cited by 23 publications

(23 citation statements)

References 13 publications

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“…Given that SCCOHT has been reported to occur in families 1,8,9 and that germline mutations of SWI/SNF complex genes have also previously been reported in highly malignant pediatric cancers 10 , we evaluated SCCOHT germline samples for SMARCA4 mutations. We discovered truncating mutations in two of the seven cases examined (Fig.…”

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confidence: 99%

Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4

et al. 2014

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Small cell carcinoma of the ovary of hypercalcemic type (SCCOHT) is an extremely rare, aggressive cancer affecting children and young women. We identified germline and somatic inactivating mutations in the SWI/SNF chromatin-remodeling gene SMARCA4 in 69% (9/13) of SCCOHT cases in addition to SMARCA4 protein loss in 82% (14/17) of SCCOHT tumors but in only 0.4% (2/485) of other primary ovarian tumors. These data implicate SMARCA4 in SCCOHT oncogenesis.

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Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4

et al. 2014

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“…Our own anecdotal experience also indicates that cytokeratin and EMA expression tends to be much more diffusely distributed in SCCOHT than in un- and de-differentiated carcinomas. Last, the role that SMARCA4 plays in each tumor type appears to be different, with SMARCA4 germline mutation being common in SCCOHT 4,5,6,22,23,24 and acquired SMARCA4 mutations being more common in un- and de-differentiated carcinomas, particularly in the setting of defective DNA mismatch repair. 18 …”

Section: Discussionmentioning

confidence: 99%

Loss of SMARCA4 Expression Is Both Sensitive and Specific for the Diagnosis of Small Cell Carcinoma of Ovary, Hypercalcemic Type

Conlon

Silva

Guerra

et al. 2016

American Journal of Surgical Pathology

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Small cell carcinoma of ovary, hypercalcemic type (SCCOHT) is a rare ovarian neoplasm that occurs in young women and has a poor prognosis. The histologic diagnosis of SCCOHT can be challenging due to its rarity and relatively non-specific histologic features, which range from the classic, first-described small cell morphology to a pattern in which there are large cells with abundant eosinophilic cytoplasm. Many entities can be in the differential diagnosis and to date, immunohistochemical stains have shown no distinctive profile and have been of limited aid. SMARCA4 (also known as BRG1) mutations have recently been reported at high frequency in these tumors. SMARCA4 is an important component of the SWI/SNF complex which regulates gene expression through alteration of nucleosome conformation. Studies to date have suggested that immunohistochemical loss of expression of SMARCA4 is associated with the presence of a SMARCA4 mutation in most cases. In this study, the sensitivity and specificity of the immunohistochemical loss of SMARCA4 expression for the diagnosis of SCCOHT is examined in the context of the differential diagnosis with other primary or metastatic ovarian tumors. All but one of the SCCOHT showed loss of SMARCA4 expression (16/17; 94%), while of 279 other tumors tested, only two tumors (one clear cell carcinoma and one ovarian melanoma) showed loss of SMARCA4 expression. We conclude that SMARCA4 immunohistochemistry is highly sensitive and specific for a diagnosis of SCCOHT and is of clinical utility in the differential diagnosis of poorly differentiated ovarian tumors.

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“…A review of the literature notes only a few well-documented cases of SCCOHT in teenagers. SCTAT is known to origin from sex cord of embryonal gonads that make the sertoli cell leydig granulosa theca cell of the ovarian stroma, and the SCCOHT is a kind of neuroendocrine tumor13).…”

Section: Discussionmentioning

confidence: 99%

“…SCCOHT is highly aggressive malignant tumor occurs mostly in young women3). The case studies of familial clustering of SCCOHT are suggestive of a heritable predisposition to SCCOHT, but the genetic etiology had yet to be characterized3).…”

Section: Discussionmentioning

confidence: 99%

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Unusual malignant neoplasms of ovary in children: two cases report

et al. 2016

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Sex cord tumors with annular tubules are known to originate from the sex cord of embryonic gonads that synthesize Sertoli cells, Leydig cells, granulosa cells, and theca cells of the ovarian stroma, while ovarian small cell carcinoma of the hypercalcemic type is a type of neuroendocrine tumor. Both these tumors are uncommon, potentially malignant neoplasms in children. We report the case of a sex cord tumor with annular tubules in an 11-year-old girl and a case of small cell carcinoma of the hypercalcemic type in a 10-year-old girl. We also discuss the prognosis and management of these tumors.

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Small cell carcinoma of the ovary of hypercalcemic type: a case report

Cited by 23 publications

References 13 publications

Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4

Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4

Loss of SMARCA4 Expression Is Both Sensitive and Specific for the Diagnosis of Small Cell Carcinoma of Ovary, Hypercalcemic Type

Unusual malignant neoplasms of ovary in children: two cases report

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