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Prepublished online as a Blood First Edition Paper on October 10, 2002; DOI 10.1182/blood-2002-05-1474.

Submitted May 22, 2002
Accepted September 6, 2002
Mo AML, clinical and biological features of the disease including AML1 gene mutations: a report of 59 cases by the Groupe Francais d'Hematologie Cellulaire (GFHC) and the Groupe Francais de Cytogenetique Hematologique (GFCH)
Christophe Roumier, Virginie Eclache, Michelle Imbert, Frederic Davi, Elizabeth Macintyre, Richard Garand, Pascaline Talmant, Pascale LePelley, Jean-Luc Lai, Olivier Casasnovas, Marc Maynadie, Francine Mugneret, Christele Bilhou-Naberra, Francoise Valensi, Isabelle Radford, Marie-Joelle Mozziconacci, Christine Arnoulet, Elianne Duchayne, Nicole Dastugue, Pascale Cornillet, Sylvie Daliphard, Francine Garnache, Najiba Boudjerra, Helene Jouault, Odile Fenneteau, Beatrice Pedron, Roland Berger, Georges Flandrin, Pierre Fenaux, and Claude Preudhomme*
Laboratoire d'Hematologie A, CHU Lille, Lille, France
Unite INSERM 524, Institut de Recherche sur le Cancer de Lille, Lille, France
Laboratoire d Hematologie, Hopital Jean Verdier, Bondy, Assistance Publique Hopitaux de Paris, Paris, France
Hematologie Biologique, Hopital Henri Mondor, Assistance Publique Hopitaux de Paris, Paris, France
Hematologie Biologique, Hopital Pitie Salpetriere, Assistance Publique Hopitaux de Paris, Paris, France
Hematologie Biologique, Hopital Necker, Assistance Publique Hopitaux de Paris, Paris, France
Laboratoire d Hematologie, Institut de Biologie, CHU Nantes, Nantes, France
Cytogenetique Hematologique, Institut de Biologie, CHU Nantes, Nantes, France
Laboratoire de Cytogenetique, CHU Lille, Lille, France
Unite d hematologie Clinique, CHU Dijon, Dijon, France
Service d Hematologie biologique, CHU Dijon, Dijon, France
Laboratoire de Cytogenetique, CHU Dijon, Dijon, France
Laboratoire d Hematologie, CHU Bordeaux, Bordeaux, France
Laboratoire de Cytogenetique Hopital Necker, Assistance Publique Hopitaux de Paris, Paris, France
Laboratoire d Hematologie Moleculaire et Cytogenetique, Institut Paoli Calmette, Marseille, Marseille, France
Laboratoire d Hematologie, Hopital Purpan ,Toulouse, Toulouse, France
Laboratoire de Genetique des Hemopathies, Hopital Purpan, Toulouse, Toulouse, France
Laboratoire d Hematologie et de Cytogenetique, CH Reims, Reims, France
Laboratoire d Hematologie, Etablissement de Transfusion Sanguine de Franche Comte, Besancon, France
Service d Hematologie, Centre Hospitalier Alger, Alger, Algeria
Hematologie Biologique, Hopital Robert Debre, Assistance Publique Hopitaux de Paris, Paris, France
Immunologie Biologique, Hopital Robert Debre, Assistance Publique Hopitaux de Paris, Paris, France
Unite INSERM 301, IGM, Hopital Saint Louis Paris, Paris, France
Unite INSERM 524, Institut de Recherche sur le Cancer de Lille, Lille, France; Service des Maladies du Sang, CHU Lille, Lille, France
Laboratoire d'Hematologie A, CHU Lille, Lille, France; Unite INSERM 524, Institut de Recherche sur le Cancer de Lille, Lille, France
* Corresponding author; email: cpreudhomme{at}chru-lille.fr.
Mutations of the AML1 gene are frequent molecular abnormalities in M0 AML, a rare type of AML. In this retrospective multicenter study, morphological, immunophenotypical, cytogenetic and molecular features of 59 de novo M0 AML cases were analysed and correlated to AML1 mutations. Point mutations of AML1 gene were observed in 16 cases (27%). They were correlated with higher WBC count (p=0.001), greater marrow blast involvement (p=0.03), higher incidence of Ig H/TCR gene rearrangement (p<0.0001) and with a border line significance lower incidence of complex karyotypes. In the 59 patients FLT3 mutations were the only significant prognostic factor associated with short survival.

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