Peritoneal papillary mesothelioma in situ: BAP1 mutation with indolent behavior for 15 years.
Virchows Arch
; 483(6): 873-878, 2023 Dec.
Article
em En
| MEDLINE
| ID: mdl-37428268
ABSTRACT
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.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Neoplasias Peritoneais
/
Mesotelioma Maligno
Limite:
Adult
/
Humans
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Male
Idioma:
En
Revista:
Virchows Arch
Assunto da revista:
BIOLOGIA MOLECULAR
/
PATOLOGIA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Áustria