Review
Practical roles for molecular diagnostic testing in ovarian adult granulosa cell tumour, Sertoli–Leydig cell tumour, microcystic stromal tumour and their mimics
Joseph T Rabban,
Anthony N Karnezis,
W Patrick Devine,
Corresponding Author
Joseph T Rabban
Pathology Department, University of California San Francisco, San Francisco, CA, USA
Address for correspondence: J T Rabban, UCSF Pathology Department, 1825 4th Street, M-2359, San Francisco, CA, USA. e-mail: [email protected]
Search for more papers by this authorAnthony N Karnezis
Pathology Department, University of California Davis, Sacramento, CA, USA
Search for more papers by this authorW Patrick Devine
Clinical Cancer Genomics Laboratory and Pathology Department, University of California San Francisco, San Francisco, CA, USA
Search for more papers by this authorJoseph T Rabban,
Anthony N Karnezis,
W Patrick Devine,
Corresponding Author
Joseph T Rabban
Pathology Department, University of California San Francisco, San Francisco, CA, USA
Address for correspondence: J T Rabban, UCSF Pathology Department, 1825 4th Street, M-2359, San Francisco, CA, USA. e-mail: [email protected]
Search for more papers by this authorAnthony N Karnezis
Pathology Department, University of California Davis, Sacramento, CA, USA
Search for more papers by this authorW Patrick Devine
Clinical Cancer Genomics Laboratory and Pathology Department, University of California San Francisco, San Francisco, CA, USA
Search for more papers by this authorAbstract
Within the last decade, molecular advances have provided insights into the genetics of several ovarian sex cord–stromal tumours that have otherwise been enigmatic. Chief among these advances are the identification of FOXL2, DICER1 and CTNNB1 mutations in adult granulosa cell tumours, Sertoli–Leydig cell tumours (SLCTs), and microcystic stromal tumours (MCSTs), respectively. As access to molecular diagnostic laboratories continues to become more widely available, the potential roles for tumour mutation testing in the pathological diagnosis of these tumours merit discussion. Furthermore, links to inherited cancer susceptibility syndromes may exist for some women with SLCT (DICER1 syndrome) and MCST [familial adenomatous polyposis (FAP)]. This review will address practical issues in deciding when and how to apply mutation testing in the diagnosis of these three sex cord–stromal tumours. The pathologist's role in recommending referral for formal risk assessment for DICER1 syndrome and FAP will also be discussed.
Conflict of interests
J. T. Rabban reports that his spouse receives a salary and stock options from Merck & Co. The other authors do not have any conflicts to declare.
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