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¹ Shanghai Clinical Center for Endocrine and Metabolic Diseases,, Shanghai Institute of Endocrinology and Metabolism and Chinese-French Laboratory of Genomics and Life Sciences, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, 197 Ruijin 2nd Road, Shanghai 200025, China ² Laboratory for Endocrine and Metabolic Diseases,, Institute of Health Sciences, SIBS, Chinese Academy of Sciences, China ³ Department of Radiological Medicine,, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China ⁴ Laboratoire Genetique et Cancer,, Fac. Med. Domaine Rockefeller. Univ-Lyon1, Lyon, France ⁵ Shanghai Key Laboratory for Endocrine Tumours,, E institute of Shanghai University, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China

(Correspondence should be addressed to X-Y Li; Email: lixy{at}sibs.ac.cn) (guangning{at}medmail.com.cn)

G Ning (lixy{at}sibs.ac.cn) (guangning{at}medmail.com.cn)

Multiple endocrine neoplasia type 1 (MEN1) is an inherited tumour syndrome characterized by the development of tumours of the parathyroid, anterior pituitary and pancreatic islets, etc. Heterozygous germ line mutations of MEN1 gene are responsible for the onset of MEN1. We investigated the probands and 31 family members from eight unrelated Chinese families associated with MEN1 and identified four novel mutations, namely 373_374ins18, 822delT, 259delT and 1092delC, as well as three previously reported mutations, such as 357_360delCTGT, 427_428delTA and R108X (CGA>TGA) of MEN1 gene. Furthermore, we detected a loss of heterozygosity (LOH) at chromosome 11q in the removed tumours, including gastrinoma, insulinoma and parathyroid adenoma from two probands of MEN1 families. RT-PCR and direct sequencing showed that mutant MEN1 transcripts remained in the MEN1-associated endocrine tumours, whereas normal menin proteins could not be detected in those tumours by either immunohistochemistry or immunoblotting. In conclusion, MEN1 heterozygous mutations are associated with LOH and menin absence, which are present in MEN1-associated endocrine tumours.