Cutaneous tumors in patients with multiple endocrine neoplasia type 1 show allelic deletion of the MEN1 gene

The Journal of Investigative Dermatology
S PackThomas N Darling

Abstract

Multiple endocrine neoplasia type 1 (MEN1), the heritable tendency to develop tumors of the parathyroid, pituitary, and entero-pancreatic endocrine tissues, is the consequence of a germline mutation in the MEN1 gene. Endocrine tumors in these patients result when the mutant MEN1 allele is accompanied by loss of the normal MEN1 allele. Recently it was reported that MEN1 patients also exhibit several cutaneous tumors, including multiple angiofibromas, collagenomas, and lipomas. The purpose of this study was to examine skin lesions from patients with MEN1 for allelic loss of the MEN1 gene. Skin lesions from five patients with MEN1 were examined using fluorescence in situ hybridization. Six angiofibromas, three collagenomas, and one lipoma showed allelic deletion of the MEN1 gene. Allelic deletion was not observed in a melanocytic nevus or acrochordon from patients with MEN1. It was also not observed in an angiofibroma from a patient with tuberous sclerosis. These results suggest that loss of function of the wild-type MEN1 gene product plays a role in the development of angiofibromas, collagenomas, and lipomas in patients with MEN1.

References

Nov 1, 1996·Journal of Medical Genetics·T SeppA J Green
Nov 1, 1996·Pediatric Pathology & Laboratory Medicine : Journal of the Society for Pediatric Pathology, Affiliated with the International Paediatric Pathology Association·D R Benjamin
Apr 18, 1997·Science·S C ChandrasekharappaS J Marx
Jul 1, 1964·Medicine·H S BALLARDR J HARTSOCK

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Citations

Feb 12, 2009·Endocrine Pathology·Selma Feldman WitchelSally E Carty
Oct 4, 2006·Orphanet Journal of Rare Diseases·Francesca MariniMaria Luisa Brandi
Feb 15, 2011·International Journal of Endocrinology·Grzegorz PiechaAndrzej Więcek
Sep 18, 1998·The Journal of Investigative Dermatology·R BöniZ Zhuang
Nov 26, 2009·The Medical Clinics of North America·Ravi Ubriani, Marc E Grossman
Jul 20, 2007·Journal of the American Academy of Dermatology·Robert A SchwartzSergiusz Jóźwiak
Dec 26, 2006·Journal of the American Academy of Dermatology·Yang Xia, Thomas N Darling
Jan 26, 2007·Advances in Dermatology·Thomas N Darling
Apr 26, 2008·Journal of the European Academy of Dermatology and Venereology : JEADV·A VidalF Cordido
Jul 11, 2006·Clinics in Dermatology·Ghada El-Hajj Fuleihan, Nelly Rubeiz
Sep 11, 2001·The American Journal of Pathology·J L McKeebyI A Lubensky
Aug 1, 2015·International Journal of Endocrinology·Vaishali I ParekhSunita K Agarwal
Mar 23, 2017·The American Journal of Dermatopathology·Jennielee CottendenNoreen M G Walsh
Jul 30, 1999·Journal of the American Academy of Dermatology·R Happle
Feb 6, 2008·European Journal of Internal Medicine·Grzegorz PiechaAndrzej Wiecek
Jan 9, 1999·Journal of Child Neurology·E S RoachH Northrup
May 22, 2004·Annals of the New York Academy of Sciences·Sunita K AgarwalStephen J Marx
Apr 16, 2005·Journal of Korean Medical Science·Tae-Won HaDae-Kwang Kim
Feb 12, 2002·The Journal of Clinical Endocrinology and Metabolism·Stephen J Marx, Lynnette K Nieman
May 27, 2011·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Andrea Saggini, Maria Luisa Brandi
Jan 6, 2005·Endocrine Reviews·Stephen J Marx, William F Simonds
Aug 30, 2008·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Ali S AlzahraniTarek Amin
Jun 30, 2019·Frontiers in Endocrinology·Sabrina ChiloiroAntonio Bianchi
Dec 13, 2016·Reviews in Endocrine & Metabolic Disorders·Constantine A Stratakis
Jul 3, 2019·Frontiers in Endocrinology·Crystal D C Kamilaris, Constantine A Stratakis
Feb 12, 2004·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Behnam AsgharianRobert T Jensen
Feb 11, 2021·Nature Reviews. Endocrinology·Abdallah Al-SalamehPhilippe Chanson

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