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

doi:10.1007/s10689-024-00433-9

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 journal › Article › Academic › peer-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 language	English
Article number	10
Journal	Familial cancer
Volume	24
Issue number	1
DOIs	https://doi.org/10.1007/s10689-024-00433-9
Publication status	Published - 28 Nov 2024

Keywords

Adult
Female
Humans
Loss of Heterozygosity
Male
Middle Aged
Multiple Endocrine Neoplasia Type 1/genetics
Proto-Oncogene Proteins/genetics
Sarcoma/genetics

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title = "Sarcomas arising in MEN1 patients: demonstrating LOH of the MEN1 locus and loss of menin expression",

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.",

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doi = "10.1007/s10689-024-00433-9",

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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 - 2024/11/28

Y1 - 2024/11/28

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.

KW - Adult

KW - Female

KW - Humans

KW - Loss of Heterozygosity

KW - Male

KW - Middle Aged

KW - Multiple Endocrine Neoplasia Type 1/genetics

KW - Proto-Oncogene Proteins/genetics

KW - Sarcoma/genetics

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DO - 10.1007/s10689-024-00433-9

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SN - 1389-9600

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JO - Familial cancer

JF - Familial cancer

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ER -

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

Abstract

Keywords

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