Onychomatricoma: Genome-wide analyses of a rare nail matrix tumor

• Published in: Journal of the American Academy of Dermatology 2011-03, Vol.64 (3), p.573-578.e1
• Main Authors: Cañueto, Javier, MD, Santos-Briz, Ángel, MD, PhD, García, Juan Luis, MD, PhD, Robledo, Cristina, PhD, Unamuno, Pablo, MD
• Format: Article
• Language: English
• Subjects: Adult; Biological and medical sciences; Chromosomes, Human, Pair 11 - genetics; Comparative Genomic Hybridization; comparative genomic hybridization arrays; Dermatology; Genome-Wide Association Study; Humans; In Situ Hybridization, Fluorescence; Male; Medical sciences; Nail Diseases - genetics; Nail Diseases - pathology; nail tumors; Nails - pathology; onychomatricoma; Skin Neoplasms - genetics; Skin Neoplasms - pathology
• ISSN: 0190-9622; 1097-6787
• DOI: 10.1016/j.jaad.2009.07.051

Background Onychomatricoma (OM) is a rare benign tumor of the nail matrix in which genome-wide analyses have never been performed. It is clinically characterized by an increased transversal curvature of the nail plate, a longitudinal yellowish discoloration, and splinter hemorrhages. Once the nail plate has been removed, fingerlike fibrokeratogenous projections appear through the proximal nailfold. Histologically, it is a fibroepithelial tumor with well-established features. In this article, a comprehensive review of this tumor is made. Objective We performed a genome-wide analysis of an OM, in an attempt to shed light on the mechanisms underlying its development. Methods We report a 36-year-old man who was given a diagnosis of OM involving his fourth right toenail. To investigate molecular genetic alterations, we carried out two approaches, fluorescent in situ hybridization and array-based comparative genomic hybridization, in our patient. Results Genomic testing of OM showed 34 genomic alterations, with most of the genomic losses being on chromosome 11. Array-based comparative genomic hybridization showed the deletion of 11p15.4, which harbors STIM-1 , 11q14.2 (RP-11 292E14), which harbors the Cathepsin C gene, 11q14 (RP11-281F10-RP11-265F24), and 11q21 (RP11-203F8 and RP11 183A22). Limitations This work is an initial approach to a genome-wide study of this tumor. Further studies (with more cases) must be conducted to pinpoint possible candidate genes for the development of OM. Conclusions Array-based comparative genomic hybridization showed important genomic alterations in OM, especially genomic losses. Most genomic losses affected the chromosome 11 in our patient. The STIM-1 and the Cathepsin C genes might play a role in the development of OM.