Journal
GYNECOLOGIC ONCOLOGY
Volume 149, Issue 2, Pages 420-427Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ygyno.2018.02.004
Keywords
Small cell carcinoma; Neuroendocrine; Gynecologic; Molecular features
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Funding
- Katie Oppo Research Fund
- NIH [P30 CA016087]
- Small Cell Ovarian Cancer Foundation
- NIH NYU CTSA from the National Center for Advancing Translational Sciences [UL1TR001445]
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Objective. Extra-pulmonary small cell carcinomas of the gynecologic tract (EPSCC-GTs) are a rare group of aggressive malignancies associated with poor prognoses and limited treatment options. Here, we review the clinical and molecular aspects of EPSCC-GTs and discuss how understanding their molecular features can assist in their diagnosis and the identification of novel effective treatments. Methods. We searched PubMed and Scopus for articles using the following keywords: small cell carcinoma in combination with neuroendocrine, ovary, vagina, fallopian tube, vulva, endometrium, uterus, cervix, or gynecologic. Articles were limited to those published in English from January 1984 to October 2017. Results. EPSCC-GTs account for 2% of all gynecologic malignancies. The molecular features of EPSCC-GTs are largely understudied and unknown, with the exception of small cell carcinoma (SCC) of the ovary, hypercalcemic type (SCCOHT) and SCC of the cervix (SCCC). In nearly all cases, SCCOHT displays mutation in a single gene, SMARCA4, a member of the SWI/SNF chromatin remodeling complex. The loss of expression of the SWI/SNF protein SMARCA2 is another feature of SCCOHT. Dual negative staining for SMARCA2 and SMARCA4 is specific for SCCOHT and is generally used by gynecologic pathologists for the accurate diagnosis of this malignancy. Mutational analysis of SCCC has shown alterations in PIK3CA, KRAS and TP53, of which the last is the most common, although other actionable mutations have been identified. The molecular features of other EPSCC-GTs are largely unknown. Conclusions. Due to their rarity, the majority of EPSCC-GTs are understudied and poorly understood. As demonstrated in the case of SCCOHT, unraveling the mutational profiles of these tumors can lead to improved diagnosis and the identification of novel therapeutic targets. (C) 2018 Elsevier Inc. All rights reserved.
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