title: Lipoblastoma of the hand and cleft palate: is there a genetic association?
abstract: We report a case of lipoblastoma of the hand in a 19-month-old female patient with a history of cleft palate. The incidence of lipoblastoma and cleft palate individually is extremely rare. To the best of our knowledge, only 1 other case of a patient with both cleft palate and lipoblastoma exists in the literature. Lipoblastoma is a rare benign neoplasm in adipose tissue almost exclusively found in children younger than 3 years. Cytogenetic testing has shown that lipoblastomas characteristically share a clonal chromosomal rearrangement affecting the long arm of chromosome 8. Furthermore, recent research has shown that the 8q chromosome is an important genetic risk factor for cleft palate development. We describe the second case linking cleft palate with this rare tumor and provide evidence for a potential genetic association.
authors.affiliation: From the Department of Plastic Surgery, New York University Medical Center, New York, New York.
authors.forename: Michael
authors.initials: M
authors.lastname: Alperovich
authors.forename: Diego
authors.initials: D
authors.lastname: Ayo
authors.forename: David A
authors.initials: DA
authors.lastname: Staffenberg
authors.forename: Sheel
authors.initials: S
authors.lastname: Sharma
mesh_terms: D002869:Chromosome Aberrations; D002898:Chromosomes, Human, Pair 8; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006225:Hand; D006801:Humans; D007223:Infant; D062689:Lipoblastoma / Q000235:genetics*; D012983:Soft Tissue Neoplasms / Q000235:genetics*