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Prepublished online as a Blood First Edition Paper on April 17, 2002; DOI 10.1182/blood-2001-12-0241.
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Blood, 15 July 2002, Vol. 100, No. 2, pp. 618-626
NEOPLASIA
Cytogenetic profile of childhood and adult megakaryoblastic
leukemia (M7): a study of the Groupe Français de
Cytogénétique Hématologique (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 on behalf of
the Groupe Français de Cytogénétique
Hématologique (GFCH) and with the contribution of the Groupe
Français d'Hématologie Cellulaire (GFHC)
From Centre Hospitalier Universitaire (CHU), Toulouse, France;
Institut Paoli Calmettes, and CHU, Marseille, France; Hôpital
Debrousse, Lyon, France; Hôpital Necker, Hôpital
Bicêtre, Hôpital Saint Antoine, Hôpital Robert
Debré, and Hôpital Saint Louis, Paris, France; Centre Henri
Becquerel, Rouen, France; CHU, Nantes, France; Hôpital Haut
Lévêque, Bordeaux, France; Hôpital Universitaire,
Genève, Suisse; CHU, Reims, France; CHU, Brest, France; CHU,
Dijon, France; CHU, Montpellier, France.
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.
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