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High incidence of biallelic point mutations in the Runt
domain of the AML1/PEBP2αB gene in Mo acute myeloid
leukemia and in myeloid malignancies with acquired
trisomy 21
by Claude Preudhomme, Delphine Warot-Loze, Christophe Roumier, Nalthalie
Grardel-Duflos, Richard Garand, Jean Luc Lai, Nicole Dastugue, Elizabeth
Macintyre, Claude Denis, Francis Bauters, Jean Pierre Kerckaert, Alain Cosson, and
Pierre Fenaux
Blood
Volume 96(8):2862-2869
October 15, 2000
©2000 by American Society of Hematology
LOH for chromosome 21 polymorphic markers in patients 3, 4, and 5.Y indicates a loss of
heterozygosity; N, no loss of heterozygosity; NI, not informative.
Claude Preudhomme et al. Blood 2000;96:2862-2869
©2000 by American Society of Hematology
SSCP analysis of AML1 point mutations.Eight examples (6 MoAML and 2 cases with inquired
trisomy 21) showed an abnormal profile (arrow): A lane 3, B lane 3, C lane 2, D lane 1, E lane 3, F
lane 1, G lane 3, and H lane 1.
Claude Preudhomme et al. Blood 2000;96:2862-2869
©2000 by American Society of Hematology
Analysis by FISH using the cCMP21 probe.Patients 3 to 6 and 12 are at diagnosis (A to E) and
patient 12 in AML evolution (F).
Claude Preudhomme et al. Blood 2000;96:2862-2869
©2000 by American Society of Hematology
Analysis of polymorphic markers.Six polymorphic markers (D21S396, D21S258, D21S65,
D21S270, D21S49, and D21S1259) are located in 21q11.1, 21q22.11, 21q22.1-q22.2, 21q22.2,
21q22.3, and 21q22.3, respectively.
Claude Preudhomme et al. Blood 2000;96:2862-2869
©2000 by American Society of Hematology
Different mechanisms that could lead to LOH of the AML1 gene in patients 3 to 5.Mechanism C,
D, E, and F could be ruled out in the 3 patients.
Claude Preudhomme et al. Blood 2000;96:2862-2869
©2000 by American Society of Hematology