Rare genetic endocrine tumor syndromes: VHL, NF1, TSC, and Carney complex.

Authors

Dionysios N Vrachnis, Constantine A Stratakis

Published in

Best practice & research. Clinical endocrinology & metabolism. Pages 102159. Aug 18, 2026. Epub Aug 18, 2026.

Abstract

Von Hippel-Lindau disease, neurofibromatosis type 1, tuberous sclerosis complex, and Carney complex are inherited disorders associated with an increased risk of developing multiple tumors in both endocrine and non-endocrine organs. Although each syndrome results from different genetic alterations, all are transmitted in an autosomal dominant manner (or occur de novo) and show considerable variability in their clinical presentation. Endocrine manifestations include pheochromocytomas, paragangliomas, neuroendocrine tumors, adrenocortical lesions, and pituitary disease. Recognizing these syndromes is important, as it allows appropriate surveillance, identification of affected family members, and the use of targeted treatments when available. In this review, we discuss the genetic basis, clinical manifestations, and current management of these disorders, with particular attention to their endocrine features and recent therapeutic developments in a practical and accessible manner for endocrinologists involved in the care of these patients.

PMID:
42629270
Bibliographic data and abstract were imported from PubMed on 22 Aug 2026.

Read full publication at:
Please sign in to see all details.

Stats

1-terrible, 9-excellent. How would you rate this publication? Sign in in to submit your rating.

Post a comment

You need to be signed in to post comments. You can sign in here.

Comments

There are no comments yet.