期刊
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
卷 46, 期 8, 页码 1153-1159出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/PAS.0000000000001894
关键词
PEComa; TFE3; ASPSCR1; translocation; sarcoma
资金
- Kristin Ann Carr Foundation [P50 CA 140146-01, P50 CA217694, P30 CA008748]
- Dahan Translocation Carcinoma Fund
This article reports three unusual mesenchymal neoplasms harboring the ASPSCR1-TFE3 gene fusion, with a morphologic phenotype more closely resembling PEComa rather than alveolar soft part sarcoma. These cases highlight the relatedness and overlap among Xp11 translocation neoplasms.
Identical TFE3-related gene fusions may be found in renal cell carcinoma and mesenchymal neoplasms such as alveolar soft part sarcoma and TFE3-rearranged perivascular epithelioid cell tumor (PEComa). Among mesenchymal neoplasms, the ASPSCR1-TFE3 gene fusion has previously been described only in alveolar soft part sarcoma. We report 3 unusual mesenchymal neoplasms harboring the ASPSCR1-TFE3 gene fusion, the morphologic phenotype of which more closely matches PEComa rather than alveolar soft part sarcoma. All 3 neoplasms occurred in females ranging in age from 18 to 34 years and were located in the viscera (kidney, bladder, and uterus). All 3 contained nests of epithelioid cells bounded by fibrovascular septa. However, all were associated with hyalinized stroma, tight nested architecture, mixed spindle cell and epithelioid pattern, clear cytoplasm, and lacked significant discohesion. Overall, morphologic features closely resembled PEComa, being distinct from the typical alveolar soft part sarcoma phenotype. While none of the neoplasms labeled for HMB45, cytokeratin, or PAX8 all showed positivity for TFE3 and cathepsin K, and all except 1 were positive for smooth muscle actin. One patient developed a liver metastasis 7 years after nephrectomy. These cases bridge the gap between 2 TFE3-rearranged neoplasms, specifically alveolar soft part sarcoma and Xp11 translocation PEComa, highlighting the relatedness and overlap among Xp11 translocation neoplasms. While most TFE3-rearranged neoplasms can be confidently placed into a specific diagnostic category such as alveolar soft part sarcoma, PEComa, or Xp11 translocation renal cell carcinoma, occasional cases have overlapping features, highlighting the potential role that the cell of origin and the specific gene fusion play in the phenotype of these neoplasms.
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