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Gynecologic oncology v.147 no.3, 2017년, pp.626 - 633   SCI SCIE
본 등재정보는 저널의 등재정보를 참고하여 보여주는 베타서비스로 정확한 논문의 등재여부는 등재기관에 확인하시기 바랍니다.

Comprehensive genomic profiling reveals inactivating SMARCA4 mutations and low tumor mutational burden in small cell carcinoma of the ovary, hypercalcemic-type

Lin, Douglas I. (Beth Israel Deaconess Medical Center, Department of Pathology, Boston, MA, United States ) ; Chudnovsky, Yakov (Foundation Medicine Inc., Cambridge, MA, United States ) ; Duggan, Bridget (South Coast Gynecologic Oncology, Inc., San Diego, CA, United States ) ; Zajchowski, Deborah (The Clearity Foundation, San Diego, CA, United States ) ; Greenbowe, Joel (Foundation Medicine Inc., Cambridge, MA, United States ) ; Ross, Jeffrey S. (Foundation Medicine Inc., Cambridge, MA, United States ) ; Gay, Laurie M. (Foundation Medicine Inc., Cambridge, MA, United States ) ; Ali, Siraj M. (Foundation Medicine Inc., Cambridge, MA, United States ) ; Elvin, Julia A. (Foundation Medicine Inc., Cambridge, MA, United States ) ;
  • 초록  

    Abstract Objective Small cell carcinoma of the ovary, hypercalcemic-type (SCCOHT) is a rare, extremely aggressive neoplasm that usually occurs in young women and is characterized by deleterious germline or somatic SMARCA4 mutations. We performed comprehensive genomic profiling (CGP) to potentially identify additional clinically and pathophysiologically relevant genomic alterations in SCCOHT. Methods CGP assessment of all classes of coding alterations in up to 406 genes commonly altered in cancer and intronic regions for up to 31 genes commonly rearranged in cancer was performed on 18 SCCOHT cases (16 exhibiting classic morphology and 2 cases exhibiting exclusive a large cell variant morphology). In addition, a retrospective database search for clinically advanced ovarian tumors with genomic profiles similar to SCCOHT yielded 3 additional cases originally diagnosed as non-SCCOHT. Results CGP revealed inactivating SMARCA4 alterations and low tumor mutational burden (TMB) ( SMARCA4 . In our retrospective search, an index ovarian cancer patient harboring inactivating SMARCA4 alterations, initially diagnosed as endometrioid carcinoma, was re-classified as SCCOHT and responded to an SCCOHT chemotherapy regimen. Conclusion The vast majority of SCCOHT demonstrate genomic SMARCA4 loss with only rare co-occurring alterations. Our data support a role for CGP in the diagnosis and management of SCCOHT and of other lesions with overlapping histological and clinical features, since identifying the former by genomic profile suggests benefit from an appropriate regimen and treatment decisions, as illustrated by an index patient. Highlights SCCOHT is characterized by genomic SMARCA4 loss with only rare co-occurring alterations. Genomic profiling may aid in the diagnosis and management of SCCOHT. SCCOHT may benefit from an aggressive treatment regimen. SMARCA4 loss in SCCOHT suggests sensitivity to EZH2-specific inhibitors.


  • 주제어

    Ovarian small cell carcinoma .   Hypercalcemia .   SMARCA4 .   SWI/SNF .   BRG1.  

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