Mediastinal Lipoblastomatosis: Report of a Case with Complex Karyotype and Review of the Literature

Abstract

Lipoblastoma or lipoblastomatosis is an uncommon fatty tumor seen in children up to the age of 5 years, with very rare exceptions above that age. It usually occurs in the extremities, but it can arise in other anatomical sites, including the head and neck area, trunk, mediastinum, mesentry, and retroperitoneum. We report a 9-month-old boy with mediastinal lipoblastomatosis showing unusually complex chromosomal aberrations. Five years following surgical excision that was incomplete as a result of the tumor's proximity to major blood vessels, the patient developed a recurrence of the tumor in the mediastinum with extension to the neck and spinal dura. We present a review of the literature related to mediastinal lipoblastoma and lipoblastomatosis and the chromosomal abnormalities of these tumors.