Whole-genome characterization of myoepithelial carcinomas of the soft tissue.
myoepithelial carcinoma
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
12 2022
12 2022
Historique:
received:
18
06
2022
accepted:
28
10
2022
entrez:
28
12
2022
pubmed:
29
12
2022
medline:
31
12
2022
Statut:
epublish
Résumé
Myoepithelial carcinomas (MECs) of soft tissue are rare and aggressive tumors affecting young adults and children, but their molecular landscape has not been comprehensively explored through genome sequencing. Here, we present the whole-exome sequencing (WES), whole-genome sequencing (WGS), and RNA sequencing findings of two MECs. Patients 1 and 2 (P1, P2), both male, were diagnosed at 27 and 37 yr of age, respectively, with shoulder (P1) and inguinal (P2) soft tissue tumors. Both patients developed metastatic disease, and P2 died of disease. P1 tumor showed a rhabdoid cytomorphology and a complete loss of INI1 (SMARCB1) expression, associated with a homozygous
Identifiants
pubmed: 36577525
pii: mcs.a006227
doi: 10.1101/mcs.a006227
pmc: PMC9808553
pii:
doi:
Substances chimiques
Biomarkers, Tumor
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2022 Cyrta et al.; Published by Cold Spring Harbor Laboratory Press.
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