Pre-B acute lymphoblastic leukemia in a patient with partial lipodystrophy and acanthosis nigricans.
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.
Franceschini
P
P
Dipartimento di Scienze Pediatriche, University of Turin, Italy.
Barisone
E
E
Signorile
F
F
Vardeau
M P
MP
Guala
A
A
Franceschini
D
D
Vivenza
C
C
Bianchi
M
M
Miniero
R
R
D000052:Acanthosis Nigricans / Q000150:complications*; D000293:Adolescent; D002051:Burkitt Lymphoma / Q000150:complications*; D005260:Female; D006801:Humans; D008060:Lipodystrophy / Q000150:complications*