[Blackfan-Diamond disease and malignancy: cause effect relationships?].
The authors report on a 24-year old patient with Blackfan-Diamond syndrome who developed a Hodgkin's disease. This patient became transfusion-dependent at the age of 10, after an initial period of corticosensitivity, and after failure of androgens. He developed hemochromatosis despite from parenteral chelation therapy. He died of infectious complications 4 months after the diagnosis of Hodgkin's lymphoma. A review of the literature shows an increased incidence of malignancies in Blackfan-Diamond syndrome (three cases of leukemia), and in similar disease (thalassemia and sickle cell disease), but not in other patients with hemosiderosis (primitive hemochromatosis, end-stage renal failure under dialysis). Etiopathogenic hypotheses are discussed.
Frappaz
D
D
Service de chimiothérapie massive et transplantation médullaire, hôpital Nord, Saint-Priest-en-Jarez, France.
Richard
O
O
Perrot
S
S
Gautheron
V
V
Elian
J C
JC
Freycon
F
F
D000328:Adult; D005199:Fanconi Anemia / Q000150:complications* / Q000628:therapy; D006689:Hodgkin Disease / Q000453:epidemiology / Q000209:etiology*; D006801:Humans; D008297:Male; D012307:Risk Factors
Maladie de Blackfan-Diamond et malignité: relations de cause à effet?