期刊
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
卷 47, 期 4, 页码 490-496出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/PAS.0000000000002010
关键词
ovary; well-differentiated Sertoli-Leydig cell tumor; DICER1; molecular testing
In this study, DICER1 molecular testing was performed on 18 cases of well-differentiated SLCT, and all were found to be DICER1 wild-type. Based on the molecular and morphological observations, it is suggested that well-differentiated SLCT is a distinct and unrelated tumor type in the ovarian sex cord-stromal tumor family, separate from the more common moderately/poorly differentiated and retiform SLCTs.
Sertoli-Leydig cell tumors (SLCTs) are uncommon ovarian sex cord-stromal neoplasms which are currently classified into well, moderately, and poorly differentiated and retiform types. Well-differentiated SLCT is the least common and typically occurs in pure form, whereas moderately and poorly differentiated and retiform types often comprise a morphologic spectrum with an admixture of all 3. DICER1 pathogenic variants are very common in SLCTs but, as far as we are aware, have not been reported in well-differentiated neoplasms, although the number of cases studied is small due to the rarity of this neoplasm. We undertook DICER1 molecular testing in a cohort of 18 well-differentiated SLCTs and show all these to be DICER1 wild-type. None of the cases harbored the p.FOXL2 C134W hotspot mutation. Based upon the DICER1 molecular results, together with morphologic observations, we propose that well-differentiated SLCT is an unrelated neoplasm to the more common moderately/poorly differentiated and retiform SLCTs and is a fundamentally distinct and unrelated tumor type within the ovarian sex cord-stromal tumor family. The implications for tumor nomenclature and recommendations for future tumor classification are discussed within the context of tumors collectively known as SLCTs.
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