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Prepublished online as a Blood First Edition Paper on April 17, 2002; DOI 10.1182/blood-2001-12-0241.

Submitted December 13, 2001
Accepted March 11, 2002
Cytogenetic profile of childhood and adult megakaryoblastic leukemia (M7) : a study of the Groupe Francais de Cytogenetique Hematologique (GFCH)
Nicole Dastugue*, Marina Lafage-Pochitaloff, Marie-Pierre Pagès, Isabelle Radford, Christian Bastard, Pascaline Talmant, Marie Joelle Mozziconacci, Claude Léonard, Christelle Bilhou-Nabéra, Christine Cabrol, Anne-Marie Capodano, Pascale Cornillet-Lefebvre, Michel Lessard, Francine Mugneret, Christine Pérot, Sylvie Taviaux, Odile Fenneteaux, Eliane Duchayne, and Roland Berger
* Corresponding author; email: dastugue.n{at}chu-toulouse.fr.
In order to draw the cytogenetic profile of childhood and adult acute megakaryoblastic leukemia (M7), the Groupe Francais de Cytogenetique Hematologique collected 53 cases of M7 (30 children and 23 adults). Compared to other acute myeloid leukemias, M7 is characterized by a higher incidence of abnormalities, a higher complexity of karyotypes and a different distribution of abnormalities among children and adults. Nine cytogenetic groups were identified: normal karyotypes (group 1), patients with Down syndrome (group 2), numerical abnormalities only (group 3), t(1;22)(p13;q13) or OTT-MAL transcript (group 4), t(9;22)(q34;q11) (group 5), 3q21q26 (group 6), -5/del(5q) and/or -7/del(7q) (group 7), i(12)(p10) (group 8) and other structural changes (group 9). Groups 1, 2, 3 and 4 were exclusively composed of children (except one adult in group 3) whereas groups 5, 6, 7 and 8 were mainly made up of adults. The main clinical and hematological features of these groups were described. No new recurrent abnormality was identified but mapping of all breakpoints allowed us to specify several possible hot spots of rearrangement: 17q22-23, 11q14-21, 21q21-22 and 16q21-22-23.
Although 90.5% of cases had no documented antecedent hematologic disorder or exposure to chemo-/radiotherapy, the morphological and the cytogenetic findings indicated that M7 might be a secondary leukemia more often than suggested by preceding history, particularly among adults. The concurrent analyses of morphological and cytogenetic data also led us to assume that the initial precursor involved might be more immature in adult than in childhood M7.

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