A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma.

In conclusion, we report novel mutations of the EXT1 and the MEN1 genes causing hereditary multiple osteochondromas and MEN1 in one patient. LEARNING POINTS: It is important to ask for the patient's family history in detail.Patients with MEN1 are characterized by the occurrence of tumors in multiple endocrine tissues and nonendocrine tissues, most frequently parathyroid (95%), enteropancreatic neuroendocrine (50%), and anterior pituitary (40%) tissues.Familiar MEN1 has a high degree of penetrance (80-95%) by the age over 50; however, combinations of the tumors may be different in members of the same family.Patients with EXT1 gene mutations should be monitored for possible transformation of bone lesions into osteochondrosarcoma. PMID: 26515642 [PubMed]

http://www.ncbi.nlm.nih.gov/pubmed/26515642?dopt=Abstract

Source: Diabetes Metab - November 2, 2015 Category: Endocrinology Authors: Remde H, Kaminsky E, Werner M, Quinkler M Tags: Endocrinol Diabetes Metab Case Rep Source Type: research