M0 AML, clinical and biologic features of the disease, including AML1 gene mutations: a report of 59 cases by the Groupe Français d'Hématologie Cellulaire (GFHC) and the Groupe Français de Cytogénétique Hématologique (GFCH).
Mutations of the AML1 gene are frequent molecular abnormalities in minimally differentiated acute myeloblastic leukemia (M0 AML), a rare type of AML. In this retrospective multicenter study, morphologic, immunophenotypical, cytogenetic, and molecular features of 59 de novo M0 AML cases were analyzed and correlated to AML1 mutations. Point mutations of AML1 gene were observed in 16 cases (27%). They were correlated with higher white blood cell (WBC) count (P =.001), greater marrow blast involvement (P =.03), higher incidence of immunoglobulin H/T-cell receptor (IgH/TCR) gene rearrangement (P <.0001), and with a borderline significant lower incidence of complex karyotypes. In the 59 patients, FLT3 mutations were the only significant prognostic factors associated with short survival.
Roumier
Christophe
C
Laboratoire d'Hématologie A, Laboratoire de Cytogénétique, and Service des Maladies du Sang, CHU Lille, France.
Eclache
Virginie
V
Imbert
Michelle
M
Davi
Frederic
F
MacIntyre
Elizabeth
E
Garand
Richard
R
Talmant
Pascaline
P
Lepelley
Pascale
P
Lai
Jean Luc
JL
Casasnovas
Olivier
O
Maynadie
Marc
M
Mugneret
Francine
F
Bilhou-Naberra
Chrystele
C
Valensi
Francoise
F
Radford
Isabelle
I
Mozziconacci
Marie Joelle
MJ
Arnoulet
Christine
C
Duchayne
Eliane
E
Dastugue
Nicole
N
Cornillet
Pascale
P
Daliphard
Sylvie
S
Garnache
Francine
F
Boudjerra
Najiba
N
Jouault
Helene
H
Fenneteau
Odile
O
Pedron
Béatrice
B
Berger
Roland
R
Flandrin
Georges
G
Fenaux
Pierre
P
Preudhomme
Claude
C
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001853:Bone Marrow / Q000473:pathology; D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins / Q000235:genetics*; D015329:Gene Rearrangement, T-Lymphocyte; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D007958:Leukocyte Count; D008875:Middle Aged; D017354:Point Mutation; D011379:Prognosis; D011518:Proto-Oncogene Proteins / Q000235:genetics; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D011948:Receptors, Antigen, T-Cell / Q000235:genetics; D012189:Retrospective Studies; D015996:Survival Rate; D014157:Transcription Factors / Q000235:genetics*; D051941:fms-Like Tyrosine Kinase 3
D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins; D007143:Immunoglobulin Heavy Chains; D011518:Proto-Oncogene Proteins; C493728:RUNX1 protein, human; D011948:Receptors, Antigen, T-Cell; D014157:Transcription Factors; C497970:FLT3 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051941:fms-Like Tyrosine Kinase 3