Allelic loss of the NF1 gene in anal malignant melanoma in a patient with neurofibromatosis type 1

S Ishii; S Han; K Shiiba; T Mizoi; M Okabe; A Horii; H Nagura; S Matsuno; I Sasaki

doi:10.1007/pl00012105

Allelic loss of the NF1 gene in anal malignant melanoma in a patient with neurofibromatosis type 1

Int J Clin Oncol. 2001 Aug;6(4):201-4. doi: 10.1007/pl00012105.

Authors

S Ishii¹, S Han, K Shiiba, T Mizoi, M Okabe, A Horii, H Nagura, S Matsuno, I Sasaki

Affiliation

¹ Division of Biological Regulation and Oncology, Department of Surgery, Tohoku University Graduate School of Medicine, 1-1 Seiryomachi, Aoba-ku, Sendai 980-8574, Japan. s.ishii@surg1.med.tohoku.ac.jp

PMID: 11706558
DOI: 10.1007/pl00012105

Abstract

A 64-year-old man with neurofibromatosis type 1 (NF1) developed a primary malignant melanoma of the anus. Genetic analysis of the resected tumor confirmed loss of heterozygosity (LOH) of the NF1 gene. Anorectal malignant melanoma in NF1 is extremely rare, and genetic studies of the NF1 gene in such patients have not been reported. The allelic loss detected in the present patient supports the previously raised idea that NF1 can function as a tumor suppressor gene in the development of malignant melanoma in patients with NF1.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Anus Neoplasms / etiology
Anus Neoplasms / genetics*
Genes, Neurofibromatosis 1*
Genes, Tumor Suppressor
Humans
Loss of Heterozygosity / genetics*
Male
Melanoma / etiology
Melanoma / genetics*
Middle Aged
Neurofibromatosis 1 / complications
Neurofibromatosis 1 / genetics*