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.

[Synchronous ENT lymphoepitheliomas. Controversies on their diagnosis and treatment]. / Linfoepiteliomas sincrónicos en áreas otorrinolaríngeas. Controversias diagnósticas y terapéuticas.

Lymphoepithelial carcinomas are characterized by proliferation of undifferentiated malignant epithelial cells together with an infiltrate of mature lymphocytes. They mainly appear in the nasopharynx but can also be encountered in other upper and lower aerodigestive sites such as oropharynx, stomach, trachea, and others. When they occur in the larynx they usually do so in the laryngeal ventricle and are characterized by protrusion of the laryngeal band, visible in laryngoscopy. They mainly metastasize to cervical lymph nodes no matter what size the tumour is and distant non-nodal metastases are not infrequent. Cases of 2 synchronous lymphoepithelial tumours in ENT regions without nodal involvement, albeit theoretically possible, are very uncommonly encountered. The very scant reports of primary laryngeal lymphoepitheliomas or only-laryngeal metastatic tumours make 2 simultaneous ENT lymphoepitheliomas an exceedingly rare form of presentation that may lead to important controversies regarding their diagnosis, staging and treatment. A case of 2 synchronous neoplasms in the larynx and cavum is reported and the most significant aspects of this uncommon feature are discussed.