Bilateral Peutz–Jeghers-Associated Sex Cord Tumor With Annular Tubules Combined With Unilateral Adult Granulosa Cell Tumor: A Case Report

Abstract

Sex cord tumor with annular tubules (SCTATs) is a rare sex cord stromal tumor in the ovary. SCTAT combined with adult granulosa cell tumor (AGCT) is even rarer. Here, we report a unique case of ovarian tumors with mixed AGCT and SCTAT components. Due to the unusual coexistence, molecular testing was separately performed on each ovary. Both SCTAT and AGCT components were found to have STK11 germline mutation. Furthermore, the AGCT component had an additional FOXL2 somatic mutation. Based on medical history and molecular testing we conclude that the ovarian tumors were associated with Peutz–Jeghers syndrome (PJS). Thus, we present the first report of bilateral PJS-associated SCTAT combined with unilateral AGCT.

Sex Cord-Stromal Tumors of the Ovary: An Update and Review. Part II — Pure Sex Cord and Sex Cord-Stromal Tumors

“…Sporadic tumors do not appear to harbor somatic STK11 alterations, 129,130 although FOXL2 mutations have been identified in tumors with an admixed AGCT component. 131,132…”

“…Identification of SCTAT in any patient, particularly if small, bilateral, and calcified, should prompt consideration of genetic counseling and possible germline testing. Sporadic tumors do not appear to harbor somatic STK11 alterations, 129,130 although FOXL2 mutations have been identified in tumors with an admixed AGCT component 131,132 …”

Relevance of Molecular Pathology for the Diagnosis of Sex Cord–Stromal Tumors of the Ovary: A Narrative Review

“…No variant of FOXL2 [14] or DICER1 [165] have been reported in tumors tested so far. Thus, the identification of a FOXL2 variant must lead to reconsider the diagnosis as granulosa cell tumor with SCTATlike features, which is one of the main diagnostic pitfalls (Figure 10M,N) [173], especially since colocalizations of SCTAT (with STK11 variant) and granulosa cell tumors (with FOXL2 variant) have been reported [174]. The identification of a DICER1 variant could be helpful to differentiate SCTAT with Sertoli cell tumor-like areas (no DICER1 variant, [165]) from Sertoli cell tumor with minor SCTAT component (DICER1 variant in 63% of the cases [159]).…”