Acute lymphoblastic leukemia with trisomy 21 constitutional mosaicism.
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.
Léonard
C
C
Departments of Pediatrics, Bicêtre Hospital, Le Kremlin-Bicêtre, France.
Avalos
M R
MR
Miélot
F
F
Poissonnier
M
M
Dommergues
J P
JP
Lejeune
J
J
Tchernia
G
G
D002648:Child; D002869:Chromosome Aberrations; D004314:Down Syndrome / Q000150:complications*; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D011123:Polyploidy; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000150:complications* / Q000235:genetics