Chromosome analysis and molecular cytogenetic investigations of an epithelioid hemangioendothelioma

Abstract

Epithelioid hemangioendothelioma is a rare, well-differentiated endothelial tumor with a wide spectrum of clinical behavior and for which genetic data are extremely limited. We present a case of an epithelioid hemangioendothelioma in a 22-year-old male, which was analyzed with multiple cytogenetic approaches. Conventional cytogenetic analysis detected structural abnormalities of 11q13 and 11q14, rings, and marker chromosomes. Multi-color FISH (mFISH) and high-resolution multi-color banding (mBAND) analyses demonstrated that the aberrations of chromosome 11 were deletions and that the ring and marker chromosomes consisted of 12(q14∼q21) material. Comparative genomic hybridization (CGH) analysis revealed gains of 11(q13∼q14) and 12(q11∼q21), loss of 11(q21∼qter), and 2 amplicons at 12(q12∼q13) and 12(q14∼q21). Our data indicate that a subset of epithelioid hemangioendotheliomas may be characterized by complex rearrangements involving deletions and gains of 11q and 12q amplifications. The present case also shows that, in order to describe and understand such complex chromosome aberrations, chromosome analysis must be complemented with several molecular cytogenetic techniques.