Cytogenetic characterization of a fibrous hamartoma of infancy with complex translocations

Fibrous hamartoma of infancy is a rare pediatric superficial soft tissue lesion. The diagnosis depends on microscopic examination. Conventional cytogenetic analysis has been reported in only two previous cases, which showed apparently balanced translocations with involvement of different chromosomes. In the present study, we used multicolor fluorescence in situ hybridization to characterize a case of fibrous hamartoma of infancy that had arisen in an unusual location. This molecular analysis revealed complex structural rearrangements involving chromosomes 1, 2, 4, and 17.