Germline genetic variants in pheochromocytoma/paraganglioma: single-center experience.
MAX
NF1
RET
SDHB
SDHD
TMEM127
VHL
Journal
Endocrine oncology (Bristol, England)
ISSN: 2634-4793
Titre abrégé: Endocr Oncol
Pays: England
ID NLM: 9918540584106676
Informations de publication
Date de publication:
01 Jan 2023
01 Jan 2023
Historique:
received:
25
04
2023
accepted:
10
05
2023
medline:
2
8
2023
pubmed:
2
8
2023
entrez:
2
8
2023
Statut:
epublish
Résumé
Pheochromocytoma and paragangliomas (PPGLs) are rare neuroendocrine tumors carrying 25-40% pathogenic germline gene variants (PGVs). We evaluated clinical, laboratory, and germline molecular profile of 115 patients with pathologic (14 patients were relatives from 8 different families recruited for genetic survey) confirmed PPGL followed in our institution. Patients with classic MEN2A/MEN2B phenotypes and at-risk relatives underwent direct analysis of
Identifiants
pubmed: 37529773
doi: 10.1530/EO-22-0091
pii: EO-22-0091
pmc: PMC10388674
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e220091Informations de copyright
© the author(s).
Déclaration de conflit d'intérêts
There is no conflict of interest that could be perceived as prejudicing the impartiality of this research.
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