Clinicopathological and molecular features of hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinomas.
genetics
histopathology
kidney neoplasms
tumour biology
Journal
Journal of clinical pathology
ISSN: 1472-4146
Titre abrégé: J Clin Pathol
Pays: England
ID NLM: 0376601
Informations de publication
Date de publication:
Dec 2020
Dec 2020
Historique:
received:
01
03
2020
revised:
13
04
2020
accepted:
15
04
2020
pubmed:
8
5
2020
medline:
15
12
2020
entrez:
8
5
2020
Statut:
ppublish
Résumé
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder caused by germline mutations in fumarate hydratase (FH). Affected families have an increased risk of renal cell carcinoma (RCC). HLRCC-associated RCC (HLRCC-RCC) is highly aggressive. Clinicopathological information of genetically diagnosed patients with HLRCC-RCC contributes to the establishment of effective therapies. Ten Japanese patients with HLRCC-RCC were enrolled in the study. Genetic testing for All patients had HLRCC-RCCs appear to have unique molecular profiles, including PD-L1 expression. One patient had complete response to immunotherapy, which may be an option for HLRCC-RCC.
Identifiants
pubmed: 32376712
pii: jclinpath-2020-206548
doi: 10.1136/jclinpath-2020-206548
doi:
Substances chimiques
Fumarate Hydratase
EC 4.2.1.2
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
819-825Informations de copyright
© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.