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,...

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Bibliographic Details
Published in:Virchows Archiv : an international journal of pathology 2010-06, Vol.456 (6), p.681-687
Main Authors: Hernández, Juan Luis García, Rodríguez-Parets, Javier Ortiz, Valero, José María, Muñoz, María Asunción Gomez, Benito, M. Rocío, Hernandez, Jesus M., Bullón, Agustín
Format: Article
Language:English
Subjects:
Biological and medical sciences
Breast cancer
Chromosome Aberrations
Comparative Genomic Hybridization
Dermatology
Female
Fibers
Fibroma - genetics
Genomics
Humans
Investigative techniques, diagnostic techniques (general aspects)
Lesions
Male
Medical sciences
Medicine
Medicine & Public Health
Middle Aged
Nucleic Acid Amplification Techniques
Original Article
Pathology
Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques
Soft Tissue Neoplasms - genetics
Tumors of the skin and soft tissue. Premalignant lesions
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Summary: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.
ISSN:0945-6317
1432-2307
DOI:10.1007/s00428-010-0911-y