Genetic Testing in Hereditary Pituitary Tumors.
AIP
Carney complex
GPR101
Genetic testing
IGSF1
Lynch syndrome
MEN1
PitNETs
Pituitary adenomas
XLAG
Journal
Archives of medical research
ISSN: 1873-5487
Titre abrégé: Arch Med Res
Pays: United States
ID NLM: 9312706
Informations de publication
Date de publication:
24 Nov 2023
24 Nov 2023
Historique:
received:
11
08
2023
revised:
26
10
2023
accepted:
13
11
2023
medline:
26
11
2023
pubmed:
26
11
2023
entrez:
25
11
2023
Statut:
aheadofprint
Résumé
Genetic testing is becoming part of mainstream endocrinology. An increasing number of rare and not-so-rare endocrine diseases have an identifiable genetic cause, either at the germline or at the somatic level. Here we summerise germline genetic alterations in patients with pituitary neuroendocrine tumors (pituitary adenomas). These may be disorders with isolated pituitary tumors, such as X-linked acrogigantism, or AIP-related pituitary tumors, or as part of syndromic diseases, such as multiple endocrine neoplasia type 1 or Carney complex. In some cases, this could be relevant for treatment choices and follow-up, as well as for family members, as cascade screening leads to early identification of affected relatives and improved clinical outcomes.
Identifiants
pubmed: 38007383
pii: S0188-4409(23)00158-3
doi: 10.1016/j.arcmed.2023.102920
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
102920Informations de copyright
Copyright © 2023 Instituto Mexicano del Seguro Social (IMSS). Published by Elsevier Inc. All rights reserved.