Léonard C, Avalos M R, Miélot F, Poissonnier M, Dommergues J P, Lejeune J, Tchernia G
Departments of Pediatrics, Bicêtre Hospital, Le Kremlin-Bicêtre, France.
Cancer Genet Cytogenet. 1993 Mar;66(1):70-2. doi: 10.1016/0165-4608(93)90151-b.
Acute lymphoblastic leukemia was diagnosed in an 11-year-old girl with mild signs of Down's syndrome. She was known since birth to have a constitutional mosaicism (46,XX/47,XX,+21c). At initial diagnosis of acute leukemia, additional chromosome changes were found in bone marrow blasts: hyperdiploidy > 50, with a structural abnormality. She was treated with a standard chemotherapeutic protocol, and has remained in complete remission for more than 3 years. The constitutional mosaicism evolved toward normalization year after year in the blood and under the effect of chemotherapy in the bone marrow.
