Primary Xp11 translocation PEComa of the testis with SFPQâTFE3 rearrangement: a case report and review of the literature.
Diagn Pathol
; 18(1): 6, 2023 Jan 16.
Article
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| MEDLINE
| ID: mdl-36647137
ABSTRACT
BACKGROUND:
Perivascular epithelioid cell neoplasms (PEComas) are a family of mesenchymal tumors with features of both smooth muscle and melanocytic differentiation. A subset of PEComas demonstrate rearrangements involving the TFE3 (Xp11) locus. Xp11 translocation PEComa is a rare neoplasm with special clinicopathological features and a more aggressive behavior. We recently encountered a case of Xp11 translocation PEComa occurring in the testis, with SFPQâTFE3 rearrangement. CASE PRESENTATION A 57-year-old male touched a mass in his testis incidentally. MRI revealed a 10 mm diameter mass in the right testis. The patient underwent radical orchiectomy. Gross examination revealed a well-demarcated mass from the surrounding testicular tissue. Microscopically, the tumor mainly displayed nested or sheet-like architecture separated by delicate fibrovascular septa. The tumor cells exhibited marked nuclear atypia and pleomorphism. Immunohistochemistry showed that the tumor cells were strongly positive for cathepsin-K, HMB45 and TFE3. Molecular analysis revealed SFPQâTFE3 gene fusion. Thus, it was diagnosed as primary Xp11 translocation PEComa of the testis.CONCLUSIONS:
The present case reports primary Xp11 translocation PEComa of the testis for the first time, which to our knowledge has not been described in the literature in this anatomic site, where it could potentially be problematic in diagnosis.Palabras clave
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Base de datos:
MEDLINE
Asunto principal:
Neoplasias de Células Epitelioides Perivasculares
/
Neoplasias
Idioma:
En
Revista:
Diagn Pathol
Asunto de la revista:
PATOLOGIA
Año:
2023
Tipo del documento:
Article