Hepatic Mesenchymal Hamartoma: Cytogenetic Analysis of a Case and Review of the Literature

Abstract

Hepatic mesenchymal hamartoma (HMH) is a rare benign liver tumor generally occurring in young children. Abnormalities of chromosome 19q13.4 and chromosomal aneuploidy detected by flow cytometry have been reported in HMH. We recently analyzed a HMH in a 14-month-old girl and identified additional novel chromosome abnormalities, including hypodiploidy with deletions of several chromosomes, without rearrangement of 19q13.4 on both routine chromosome analysis and fluorescent in-situ hybridization analysis using subtelomere probes for chromosome 19q. This case underscores the need for chromosome analysis of all HMH and the need to report these changes to better understand the pathophysiology and the entire spectrum of cytogenetics of this uncommon tumor.