Multiple endocrine neoplasia type 1 with multiple leiomyomas linked to a novel mutation in the MEN1 gene.

Yonsei Medical Journal
Heekyoung ChoiSung-Kil Lim

Abstract

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominantly inherited syndrome. MEN1 is characterized by the presence of functioning and nonfunctioning tumors or hyperplasia of the pituitary gland, parathyroid glands, and pancreatic islet cells. In addition, MEN1 carriers can have adrenal or thyroid tumors and non-endocrine tumors, such as lipomas, angiofibromas, and leiomyomas. Although leiomyoma is not a major component of MEN1, it is thought to occur more frequently than expected. However, there has been no report of a case of MEN1 with leiomyoma in Korea so far. This report describes a patient with multiple leiomyomas in MEN1. A 50-year-old woman was referred for further evaluation of elevated calcium levels and osteoporosis. Biochemical abnormalities included hypercalcemia with elevated parathyroid hormone. There was hyperprolactinemia with pituitary microadenoma in sella MRI. An abdominal MRI demonstrated adrenal nodules and leiomyomas in the bladder and uterus. Endoscopic ultrasonography demonstrated esophageal leiomyoma and pancreatic islet cell tumor. A subtotal parathyroidectomy with thymectomy was performed. Sequencing of the MEN1 gene in this patient revealed a novel missense mutation (D350V, exon 7). This...Continue Reading

References

Apr 18, 1997·Science·S C ChandrasekharappaS J Marx
Apr 16, 1998·The Journal of Investigative Dermatology·S PackT N Darling
Jun 10, 2000·European Journal of Clinical Investigation·J F RoijersC J Lips
Apr 11, 2001·Trends in Endocrinology and Metabolism : TEM·D H SchussheimS J Marx
May 2, 2001·Environmental Technology·T J LeeM Matsumara
Sep 11, 2001·The American Journal of Pathology·J L McKeebyI A Lubensky
Jun 7, 2002·Archives of Surgery·Maria A KouvarakiDouglas B Evans
May 18, 2004·Pathology International·Hayato IkotaHiroshi Matsushita
Feb 19, 2005·Journal of Surgical Oncology·Gerard M Doherty

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Citations

Mar 26, 2013·The Annals of Thoracic Surgery·Olga KazarinGil Bar-Sela
Oct 14, 2014·Endocrinology and Metabolism·Yoon Jung ChungYumie Rhee
Jan 15, 2009·The Journal of Clinical Endocrinology and Metabolism·Sunita K AgarwalStephen J Marx
Jun 25, 2020·Journal of Human Reproductive Sciences·Raiz Ahmad MisgarMir Iftikhar Bashir
Apr 21, 2021·Proceedings of the National Academy of Sciences of the United States of America·Jungmin ChoiAlessandro D Santin

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Methods Mentioned

BETA
X-ray

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