TY - JOUR
T1 - Sarcomas arising in MEN1 patients
T2 - demonstrating LOH of the MEN1 locus and loss of menin expression
AU - van Leeuwaarde, Rachel S.
AU - Halfdanarson, Thorvardur R.
AU - Sudhakar, Shwetha M.
AU - Meijers, Ruud W.J.
AU - Folpe, Andrew L.
AU - Brosens, Lodewijk A.A.
N1 - Publisher Copyright:
© The Author(s), under exclusive licence to Springer Nature B.V. 2024.
PY - 2025
Y1 - 2025
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85211084010&partnerID=8YFLogxK
U2 - 10.1007/s10689-024-00433-9
DO - 10.1007/s10689-024-00433-9
M3 - Article
C2 - 39609309
AN - SCOPUS:85211084010
SN - 1389-9600
VL - 24
JO - Familial Cancer
JF - Familial Cancer
IS - 1
M1 - 10
ER -