MEN1患者中出现的肉瘤：证明MEN1位点的LOH和menin表达的缺失。

IF 1.8 4区医学 Q3 GENETICS & HEREDITY

Familial Cancer Pub Date : 2024-11-28 DOI:10.1007/s10689-024-00433-9

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

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引用次数: 0

摘要

多发性内分泌肿瘤1型（MEN1）是一种以内分泌肿瘤为特征的遗传性肿瘤综合征，通常起源于甲状旁腺、胰腺或垂体前叶。此外，良性皮肤软组织肿瘤在MEN1患者中普遍存在。尽管MEN1患者中有肉瘤的报道，但尚不清楚这些肿瘤是否应被视为MEN1综合征的一部分。本文描述了5例MEN1综合征合并肉瘤的患者。在所有5个肉瘤中，MEN1基因的杂合性缺失和menin的表达缺失都被显示出来，这表明肉瘤可能是MEN1综合征的一种表型表达。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

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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来源期刊

Familial Cancer 医学-遗传学

CiteScore

4.10

自引率

4.50%

发文量

审稿时长

6-12 weeks

期刊介绍： In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers. Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician. The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.