PEComa-like Neoplasms Characterized by ASPSCR1-TFE3 Fusion: Another Face of TFE3-related Mesenchymal Neoplasia.
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
/ genetics
Biomarkers, Tumor
/ genetics
Carcinoma, Renal Cell
/ pathology
Female
Gene Fusion
Humans
Intracellular Signaling Peptides and Proteins
/ genetics
Kidney Neoplasms
/ genetics
Perivascular Epithelioid Cell Neoplasms
/ diagnosis
Sarcoma, Alveolar Soft Part
/ diagnosis
Translocation, Genetic
Journal
The American journal of surgical pathology
ISSN: 1532-0979
Titre abrégé: Am J Surg Pathol
Pays: United States
ID NLM: 7707904
Informations de publication
Date de publication:
01 08 2022
01 08 2022
Historique:
entrez:
18
7
2022
pubmed:
19
7
2022
medline:
20
7
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 35848761
doi: 10.1097/PAS.0000000000001894
pii: 00000478-202208000-00016
pmc: PMC9298479
mid: NIHMS1786426
doi:
Substances chimiques
ASPSCR1 protein, human
0
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
0
Biomarkers, Tumor
0
Intracellular Signaling Peptides and Proteins
0
TFE3 protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
1153-1159Subventions
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA140146
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA217694
Pays : United States
Informations de copyright
Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.
Déclaration de conflit d'intérêts
Conflicts of Interest and Source of Funding: Supported in part by: P50 CA 140146-01 (C.R.A.), P50 CA217694 (C.R.A.), P30 CA008748 (C.R.A.), Kristin Ann Carr Foundation (C.R.A.), Dahan Translocation Carcinoma Fund and Joey’s Wings (P.A.). The authors have disclosed that they have no significant relationships with, or financial interest in, any commercial companies pertaining to this article.
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