Sarcomas arising in MEN1 patients: demonstrating LOH of the MEN1 locus and loss of menin expression

Rachel S. van Leeuwaarde*, Thorvardur R. Halfdanarson, Shwetha M. Sudhakar, Ruud W.J. Meijers, Andrew L. Folpe, Lodewijk A.A. Brosens

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Multiple endocrine neoplasia type 1 (MEN1) is a hereditary tumor syndrome characterized by endocrine tumors, typically from parathyroid, pancreatic, or anterior pituitary origin. In addition, benign cutaneous soft tissue tumors are prevalent in MEN1 patients. Although sarcomas have been reported in MEN1 patients it is unclear if these tumors should be considered as part of the MEN1 syndrome. Here, five patients with a MEN1 syndrome and a sarcoma are described. In all five sarcomas loss of heterozygosity of the MEN1 gene and loss of expression of menin are shown, suggesting that sarcomas may be a phenotypic expression of MEN1 syndrome.

Original languageEnglish
Article number10
JournalFamilial Cancer
Volume24
Issue number1
Early online date28 Nov 2024
DOIs
Publication statusPublished - 2025

Bibliographical note

Publisher Copyright:
© The Author(s), under exclusive licence to Springer Nature B.V. 2024.

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