PMID- 9540988
OWN - NLM
STAT- MEDLINE
DCOM- 19980504
LR  - 20041117
IS  - 0022-202X (Print)
IS  - 0022-202X (Linking)
VI  - 110
IP  - 4
DP  - 1998 Apr
TI  - Cutaneous tumors in patients with multiple endocrine neoplasia type 1 show 
      allelic deletion of the MEN1 gene.
PG  - 438-40
AB  - 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.
FAU - Pack, S
AU  - Pack S
AD  - Dermatology Branch and Laboratory of Pathology, National Cancer Institute, 
      Bethesda, Maryland 20892-1908, USA.
FAU - Turner, M L
AU  - Turner ML
FAU - Zhuang, Z
AU  - Zhuang Z
FAU - Vortmeyer, A O
AU  - Vortmeyer AO
FAU - Boni, R
AU  - Boni R
FAU - Skarulis, M
AU  - Skarulis M
FAU - Marx, S J
AU  - Marx SJ
FAU - Darling, T N
AU  - Darling TN
LA  - eng
PT  - Journal Article
PL  - United States
TA  - J Invest Dermatol
JT  - The Journal of investigative dermatology
JID - 0426720
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - *Alleles
MH  - Angiofibroma/*genetics
MH  - Collagen Diseases/*genetics
MH  - Female
MH  - *Gene Deletion
MH  - Humans
MH  - Hyperparathyroidism/complications
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Nevus, Pigmented/complications/genetics
MH  - Skin Neoplasms/*genetics
EDAT- 1998/04/16 00:00
MHDA- 1998/04/16 00:01
CRDT- 1998/04/16 00:00
PHST- 1998/04/16 00:00 [pubmed]
PHST- 1998/04/16 00:01 [medline]
PHST- 1998/04/16 00:00 [entrez]
AID - S0022-202X(15)40058-2 [pii]
AID - 10.1046/j.1523-1747.1998.00140.x [doi]
PST - ppublish
SO  - J Invest Dermatol. 1998 Apr;110(4):438-40. doi: 10.1046/j.1523-1747.1998.00140.x.