[Acute myelomonocytic leukemias in children with xanthomas. Xantholeukemia]

"Xantholeukemia" is a rare disease which combines a juvenile chronic granulocytic leukemia with skin xanthomas and normal serum cholesterol level. The prognosis is variable, usually lethal, sometimes chronic with possible spontaneous cure. We collected 11 patients aged 3 months to 3 years and half at diagnosis. Nine died, 7 with a terminal "blastic" marrow. Blastic crisis was sometimes present at the onset, sometimes started later, between 9 months and 9 years after the onset. One child is still alive but in blastic crisis. One young girl is hematologically normal 13 years after the onset. At the onset, she had no bad prognostic signs. And she received no treatment. Five children had "café au lait" spots, 4 of them had familial history of neurofibromatosis. This frequent association confirms a genetic predisposition. Eight patients had one or several examinations of bone marrow and blood cytogenetics. Only one had an evident clonal abnormality: monosomy 7 (45 XY, -7) in all bone marrow cells. This monosomy 7 was discovered 21 months after the onset and 3 months before the blastic crisis. No chemotherapy had been used before this karyotype. Chemotherapeutic agents were essentially corticosteroids, 6 mercaptopurine and cytarabine. They gave an imperfect result and did not influence the outcome; therefore an aggressive treatment or a bone marrow transplantation should be discussed.