TY - JOUR
T1 - Well-differentiated Sertoli-Leydig Cell Tumors (SLCTs) Are Not Associated with DICER1 Pathogenic Variants and Represent a Different Tumor Type to Moderately and Poorly Differentiated SLCTs
AU - McCluggage, W. Glenn
AU - Rivera, Barbara
AU - Chong, Anne Sophie
AU - Clarke, Blaise A.
AU - Schultz, Kris Ann P.
AU - Dehner, Louis P.
AU - Tchrakian, Nairi
AU - Apellaniz-Ruiz, Maria
AU - Gilks, C. Blake
AU - Kommoss, Friedrich
AU - Stewart, Colin J.R.
AU - Foulkes, William D.
N1 - Publisher Copyright:
© 2023 Lippincott Williams and Wilkins. All rights reserved.
PY - 2023/4/1
Y1 - 2023/4/1
N2 - 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.
AB - 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.
KW - DICER1
KW - molecular testing
KW - ovary
KW - well-differentiated Sertoli-Leydig cell tumor
UR - http://www.scopus.com/inward/record.url?scp=85150311130&partnerID=8YFLogxK
U2 - 10.1097/PAS.0000000000002010
DO - 10.1097/PAS.0000000000002010
M3 - Article
C2 - 36583307
AN - SCOPUS:85150311130
SN - 0147-5185
VL - 47
SP - 490
EP - 496
JO - American Journal of Surgical Pathology
JF - American Journal of Surgical Pathology
IS - 4
ER -