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Blood, 1 June 2002, Vol. 99, No. 11, pp. 4154-4159
NEOPLASIA
CD4+,
CD56+ DC2
acute leukemia is characterized by recurrent clonal chromosomal
changes affecting 6 major targets: a study of 21 cases by the
Groupe Français de Cytogénétique
Hématologique
Dominique Leroux,
Francine Mugneret,
Mary Callanan,
Isabelle Radford-Weiss,
Nicole Dastugue,
Jean Feuillard,
Franseza Le
Mée,
Ghislaine Plessis,
Pascaline Talmant,
Nathalie Gachard,
Françoise Uettwiller,
Marie-Pierre Pages,
Marie-Joëlle Mozziconacci,
Virginie Eclache,
Catherine Sibille,
Hervé Avet-Loiseau, and
Marina Lafage-Pochitaloff on behalf of Groupe
Français de Cytogénétique
Hématologique (GFCH)
From the Laboratoire d'Hématologie Cellulaire et
Moléculaire, Centre Hospitalier Universitaire (CHU) Michallon,
Grenoble, France; Laboratoire de Cytogénétique, CHU Bocage,
Dijon, France; Service d'Histologie, Embryologie et de
Cytogénétique, Hôpital Necker Enfants-Malades, Paris,
France; Laboratoire d'Hématologie et
Génétique des Hémopathies, Hôpital Purpan,
Toulouse, France; Service d'Hématologie Biologique,
Hôpital Avicenne, Université Paris 13, Bobigny,
France; Laboratoire de Cytogénétique,
Hôpital Pontchaillou, Rennes, France; Service de
Génétique, CHU Clémenceau, Caen, France;
Laboratoire de Cytogénétique Hématologique, Institut
de Biologie des Hôpitaux, Nantes, France;
Laboratoire d'Hématologie, CHU Dupuytren, Limoges, France;
Laboratoire de Cytogénétique, Hôpital de Hautepierre,
Strasbourg, France; Laboratoire
d'Hématologie-Cytogénétique, Hôpital
Debrousse, Lyon, France; Département de Biologie,
Unité de Génétique Hématologique, Institut
Paoli-Calmettes, Marseille, France; Laboratoire Central
d'Hématologie, Hôpital Jean Verdier, Bondy,
France; and Laboratoire de Génétique et de
Biologie Moléculaire, Gerpine, Belgique.
CD4+, CD56+ DC2 malignancies
constitute a novel disease entity, which has recently been shown to
arise from a transformed lymphoid-related plasmacytoid dendritic cell
(DC2). Diagnosis is primarily based on a particular immunophenotype
with tumor cells expressing CD4 and CD56 antigens in the absence of
common lymphoid or myeloid lineage markers. Little is currently known
about the cytogenetic features of this disease entity. In this setting,
the Groupe Français de Cytogénétique
Hématologique (GFCH) initiated a cytogenetic study of 18 adults
and 3 children with CD4+, CD56+ DC2 acute
leukemia using conventional and fluorescence in situ hybridization/24-color karyotyping. Clonal, mostly complex chromosome aberrations were found in 14 patients (66%). Six major recurrent chromosomal targets were defined. These were 5q, 12p, 13q, 6q, 15q, and
9, which were involved in 72% (5q), 64% (12p and 13q), 50% (6q),
43% (15q), and 28% (monosomy 9) of cases, respectively. Cytogenetic
features can be summarized as follows: (1) gross genomic imbalances
(mostly losses) predominate, (2) no single anomaly can be considered as
specific, whereas their combination/accumulation is, and (3) both
lymphoid and myeloid lineage-associated rearrangements are observed in
unusual combinations in the same cell. This is suggestive of complex
multistep tumorigenic mechanisms and is supportive of the hypothesis
that CD4+, CD56+ DC2 acute leukemia may arise
from an undifferentiated nonmyeloid nonlymphoid progenitor cell. In
conclusion, the present study documents for the first time the
existence of a characteristic cytogenetic profile for this novel
disease entity.
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