Open AccessUterine Tumor Resembling Ovarian Sex Cord Tumor (UTROSCT)
Author(s) -
Emily A. Goebel,
Silvia Hernandez Bonilla,
Fei Dong,
Brendan C. Dickson,
Lien Hoang,
David Hardisson,
Maribel Lacambra,
Fang-I Lu,
Christopher D.�M. Fletcher,
Christopher P. Crum,
Cristina R. Antonescu,
Marisa R. Nucci
Publication year - 2019
Publication title -
the american journal of surgical pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.625
H-Index - 210
eISSN - 1532-0979
pISSN - 0147-5185
DOI - 10.1097/pas.0000000000001348
Subject(s) - fluorescence in situ hybridization , biology , fusion gene , gene rearrangement , cancer research , pathology , gene , medicine , genetics , chromosome
Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare mesenchymal neoplasm, of uncertain biological potential, that was recently reported to exhibit recurrent gene fusions involving NCOA2-3. The purpose of this study was to, using a larger sample size, better characterize the histopathologic and molecular diversity of UTROSCT. Twenty-six cases of UTROSCT from 5 institutions were selected for further study. Fluorescence in situ hybridization for NCOA1, NCOA2, NCOA3, ESR1 and GREB1, and targeted RNA sequencing was performed on 17 and 8 UTROSCTs, respectively. Eight cases underwent massively parallel sequencing to detect single nucleotide variants (SNV), copy number variations, and structural variants using a targeted hybrid-capture based assay. NCOA1-3 rearrangement was identified in 81.8% (18/22) of cases. The most common fusion was ESR1-NCOA3, occurring in 40.9% (9/22). GREB1-NCOA1 (n=4), ESR1-NCOA2 (n=3), and GREB1-NCOA2 (n=1) rearrangements were also identified. No recurrent SNVs were identified and no tumor had SNVs in FOXL2, DICER1, STK11, or AKT1, which can be seen in ovarian sex cord-stromal tumors. Copy number variations were infrequent. Clinical follow-up was available for 11 cases with a mean follow-up interval of 94.4 (range, 1 to 319) months. Only one case had a recurrence 66 months after the initial diagnosis and this was the single case with a GREB1-NCOA2 fusion. This study reports the morphologic spectrum of UTROSCT and confirms the recently reported recurrent NCOA2-3 gene fusions, in addition to identifying novel rearrangements involving NCOA1 in these tumors.