Loss of Heterozygosity of the Retinoblastoma (RB1) Gene in Lipomas From a Retinoblastoma Patient

Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma

“…Age at presentation and site distribution of lipomas compare with the phenotype reported in patients with hereditary retinoblastoma. 10,11 However, in this family almost all carriers of the mutant RB1 allele developed multiple lipomas while lipomas are infrequent in other patients with hereditary predisposition to retinoblastoma. It is important to note that the presentation of lipomas on the background of retinoblastoma predisposition is distinct from that observed in the two known lipomatoses, ie familial multiple lipomatosis or benign cervical lipomatosis.…”

Retinoblastoma Plus Lipomatosis: An Autosomal Dominant Syndrome

“…The treatment of lipomas in our patient consisted of a combined approach (surgical excision and tumescent liposuction) with excellent aesthetic results, respecting the principles of literature. An early diagnosis can help the patient to be aware of his disease, which could be transmitted to his children, despite there being no previous cases of the same disease in the family, as reported by the study of Rieder et al [5]. …”

An Association of Multiple Well Differentiated Liposarcomas, Lipomatous Tissue and Hereditary Retinoblastoma

“…Multiple lipomas are reported to be associated with hereditary retinoblastoma [6,9,10]. Hereditary retinoblastoma patients with lipomas have a greater frequency (30%) of second malignant neoplasms (including malignant fibrous histiocytoma, leiomyosarcoma and fibrosarcoma) compared with patients in whom lipomas are not an associated feature (risk of approximately 13%) [6].…”

“…Cytogenetic and molecular genetic evidence for the link between germline RB1 mutations and lipomas was initially revealed by FISH and microsatellite studies that showed that the DNA in the lipomas from patients with retinoblastoma had lost heterozygosity of the RB1 gene [9].…”