title: Cytogenetic profile of childhood and adult megakaryoblastic leukemia (M7): a study of the Groupe Français de Cytogénétique Hématologique (GFCH).
abstract: To draw the cytogenetic profile of childhood and adult acute megakaryoblastic leukemia (M7), the Groupe Français de Cytogénétique Hématologique 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) or -7/del(7q) or both (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 hematologic 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 chemotherapy or radiotherapy, the morphologic 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 morphologic and cytogenetic data also led us to assume that the initial precursor involved might be more immature in adult than in childhood M7.
authors.affiliation: Centre Hospitalier Universitaire (CHU), Toulouse, France. dastugue.n@chu-toulouse.fr
authors.forename: Nicole
authors.initials: N
authors.lastname: Dastugue
authors.forename: Marina
authors.initials: M
authors.lastname: Lafage-Pochitaloff
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Pagès
authors.forename: Isabelle
authors.initials: I
authors.lastname: Radford
authors.forename: Christian
authors.initials: C
authors.lastname: Bastard
authors.forename: Pascaline
authors.initials: P
authors.lastname: Talmant
authors.forename: Marie Joelle
authors.initials: MJ
authors.lastname: Mozziconacci
authors.forename: Claude
authors.initials: C
authors.lastname: Léonard
authors.forename: Christelle
authors.initials: C
authors.lastname: Bilhou-Nabéra
authors.forename: Christine
authors.initials: C
authors.lastname: Cabrol
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Capodano
authors.forename: Pascale
authors.initials: P
authors.lastname: Cornillet-Lefebvre
authors.forename: Michel
authors.initials: M
authors.lastname: Lessard
authors.forename: Francine
authors.initials: F
authors.lastname: Mugneret
authors.forename: Christine
authors.initials: C
authors.lastname: Pérot
authors.forename: Sylvie
authors.initials: S
authors.lastname: Taviaux
authors.forename: Odile
authors.initials: O
authors.lastname: Fenneteaux
authors.forename: Eliane
authors.initials: E
authors.lastname: Duchayne
authors.forename: Roland
authors.initials: R
authors.lastname: Berger
mesh_terms: D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002880:Chromosomes, Human, Pair 11; D002885:Chromosomes, Human, Pair 16; D002886:Chromosomes, Human, Pair 17; D002891:Chromosomes, Human, Pair 21; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D016130:Immunophenotyping; D007223:Infant; D007947:Leukemia, Megakaryoblastic, Acute / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D008297:Male; D008875:Middle Aged; D016609:Neoplasms, Second Primary; D012189:Retrospective Studies