Pseudoendocrine sarcoma: clinicopathologic, molecular, and epigenetic features of one case.
CTTNB1 mutations
Neuroendocrine-like
Pseudoendocrine sarcoma
Soft tissue
Whole-genome methylation profiling
Journal
Virchows Archiv : an international journal of pathology
ISSN: 1432-2307
Titre abrégé: Virchows Arch
Pays: Germany
ID NLM: 9423843
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
received:
09
10
2023
accepted:
31
10
2023
revised:
24
10
2023
medline:
7
12
2023
pubmed:
13
11
2023
entrez:
12
11
2023
Statut:
ppublish
Résumé
Pseudoendocrine sarcoma (PES) is a recently described neoplasm typically arising in paravertebral soft tissues. Histologically, PES resembles well-differentiated neuroendocrine tumors but lacks expression of epithelial/neuroendocrine markers, and most show aberrant nuclear β-catenin positivity. We describe the clinicopathological and molecular features and DNA methylation profile of one PES. A resected paraspinal soft tissue mass in a 52-year-old man showed a neuroendocrine-like neoplasm, negative for keratin, and synaptophysin and showing diffuse nuclear β-catenin expression. Targeted NGS confirmed a CTNNB1 (p.S37C) mutation. Whole genome methylation analysis showed no match to any methylation class in the central nervous system tumor (versions 11b6 and 12b6) or sarcoma classifier (calibrated scores of ≤0.3), but clustered together with a recently reported PES in which methylation analysis was also performed. He remained disease-free for 18 months after surgery, followed by chemoradiation. As more cases are examined, our findings suggest that PES may have a unique methylation profiling signature.
Identifiants
pubmed: 37953374
doi: 10.1007/s00428-023-03695-3
pii: 10.1007/s00428-023-03695-3
doi:
Substances chimiques
beta Catenin
0
Biomarkers, Tumor
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
899-904Subventions
Organisme : Mayo Clinic
ID : IRB #21-9003
Informations de copyright
© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
Références
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