Peritoneal papillary mesothelioma in situ: BAP1 mutation with indolent behavior for 15 years.
BRCA1-associated protein 1
Malignant mesothelioma in situ
Papillary mesothelioma in situ
Peritoneum
Well-differentiated papillary mesothelial tumor
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:
17
03
2023
accepted:
27
06
2023
revised:
26
06
2023
medline:
7
12
2023
pubmed:
10
7
2023
entrez:
10
7
2023
Statut:
ppublish
Résumé
Papillary mesothelioma in situ (PMIS) is a rare and enigmatic disease. Most instances manifest as lesions of the peritoneal serosa. The pathogenesis and behavior of peritoneal PMIS are still poorly understood, and separation from benign well differentiated peritoneal mesothelial tumors (WDPMT) may be challenging. We describe the 15-year long course of a PMIS in an adult male in which inactivating mutations of BAP1, encoding BRCA1 associated protein 1 (BAP1), were identified. Tumor samples were obtained on 2 occasions more than 8y apart. In both samples, the tumor cells were bland, with occasional focal infiltration into the stalks of larger papillary lesions. However, no invasion into subserosal adipose tissue was identified. In both samples the tumor cells did not express nuclear BAP1. Comprehensive genomic analysis of the initial tumor sample revealed a somatic inactivating mutation in BAP1 (predicted effect, Y223*) and a somatic variant of IRS2 (A701_V702insAA). An additional inactivating mutation in BAP1 (predicted effect, T69fs*5) was detected in the later sample. The patient did not receive any treatment and is still alive 15 years after initial presentation. Our experience supports the view that peritoneal PMIS may follow an indolent course for many years and prompts the question whether these tumors should uniformly be treated aggressively.
Identifiants
pubmed: 37428268
doi: 10.1007/s00428-023-03593-8
pii: 10.1007/s00428-023-03593-8
doi:
Substances chimiques
Ubiquitin Thiolesterase
EC 3.4.19.12
Biomarkers, Tumor
0
BAP1 protein, human
0
Tumor Suppressor Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
873-878Informations de copyright
© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
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