title: Pre-B acute lymphoblastic leukemia in a patient with partial lipodystrophy and acanthosis nigricans.
abstract: In patients with lipodystrophies a post binding defect in insulin action has been described involving phosphorylation of the beta subunit of the insulin receptor, suggesting the presence of a genetically determined defect in insulin action; the receptor gene has been mapped to the distal short arm of chromosome 19 close to the break-point of a specific chromosome translocation frequently found in pre-B Acute Lymphoblastic Leukemia (ALL). We report on a 13 years old female patient with partial lipodystrophy, acanthosis nigricans and insulin resistance who developed a pre-B ALL. Since lipodystrophy and pre-B ALL are rare disorders, a possible causal relationship between the two diseases is suggested possibly mediated by a mutation in the insulin receptor gene.
authors.affiliation: Dipartimento di Scienze Pediatriche, University of Turin, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Franceschini
authors.forename: E
authors.initials: E
authors.lastname: Barisone
authors.forename: F
authors.initials: F
authors.lastname: Signorile
authors.forename: M P
authors.initials: MP
authors.lastname: Vardeau
authors.forename: A
authors.initials: A
authors.lastname: Guala
authors.forename: D
authors.initials: D
authors.lastname: Franceschini
authors.forename: C
authors.initials: C
authors.lastname: Vivenza
authors.forename: M
authors.initials: M
authors.lastname: Bianchi
authors.forename: R
authors.initials: R
authors.lastname: Miniero
mesh_terms: D000052:Acanthosis Nigricans / Q000150:complications*; D000293:Adolescent; D002051:Burkitt Lymphoma / Q000150:complications*; D005260:Female; D006801:Humans; D008060:Lipodystrophy / Q000150:complications*