High-resolution genome-wide analysis of chromosomal alterations in elastofibroma

Elastofibroma is a rare, benign fibrous proliferation that most commonly occur in periscapular soft tissues and is characterized by accumulated elastic fibers. Although the lesion is generally regarded as a reactive process, an unusual fibroblastic pseudotumor or as a fibroelastic tumor-like lesion, its etiology remains unknown. Cytogenetic studies in these lesions detected chromosomal instability and some recurrent clonal chromosomal changes, which raised the possibility that the lesion represents a neoplastic process. Here, we report the genomic alterations detected by array-based comparative genomic hybridization (aCGH) and by multiplex ligation-dependent probe amplification (MLPA) in two cases of elastofibroma. Both cases showed losses on 1p, 13q, 19p, and 22q by aCGH. In addition, deletion of CASR (3q21), GSTP1 (11q13), BRCA2 (13q12) and gains on APC (5q21) and PAH (12q23) were observed by MLPA in both samples. Genomic screening studies of this fibrous proliferation may lead to identify chromosomal regions containing genes involved in the development of elastofibromas.