ABSTRACT
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.
Subject(s)
Gene Rearrangement , Sex Cord-Gonadal Stromal Tumors/genetics , Sex Cord-Gonadal Stromal Tumors/pathology , Uterine Neoplasms/genetics , Uterine Neoplasms/pathology , Adult , Aged , Estrogen Receptor alpha/genetics , Female , Humans , Middle Aged , Neoplasm Proteins/genetics , Neoplasm Recurrence, Local , Nuclear Receptor Coactivator 1/genetics , Nuclear Receptor Coactivator 2/genetics , Nuclear Receptor Coactivator 3/genetics , Oncogene FusionABSTRACT
BACKGROUND: The use of topically applied hemostatic substances during surgery has become a common practice. In some cases, the material is not absorbed or induces a granulomatous reaction resulting in a pseudotumoral lesion. With imaging studies, it is not possible to differentiate this from a tumor recurrence or abscess. This study describes the authors' cytologic experience with a large series of pseudotumoral lesions induced by oxidized cellulose, one of the most commonly used hemostatic agents. Almost no cytologic descriptions are available in the medical literature. METHODS: Sixteen patients were evaluated, and the most common sites of fine-needle aspiration (FNA) were the mediastinum and thyroid surgical bed. Other locations were the axilla, neck, vulva, liver, and retroperitoneum. All these lesions appeared after surgical procedures in which oxidized cellulose was used as a topical hemostatic agent. The interval time between surgery and FNA varied from 4 to 46 months with a mean of 15 months. RESULTS: Cytology samples showed very similar findings. In all cases, foreign-body material with a variable granulomatous reaction was present. Oxidized cellulose was seen as laminated inorganic fragments and most often showed an elongated, quadrangular appearance. Amorphous, ill-defined fragments as well as a dense proteinaceous background with phagocytic cells were also present. CONCLUSIONS: The current study demonstrates that FNA cytology is a very useful method for the detection of pseudotumoral lesions induced by hemostatic agents. Pathologists must be familiarized with this finding because cytology permits easy differentiation from tumor recurrence.
