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Chromosomal insertion involving MLL in childhood acute myeloblastic leukemia (M4)
Authors:Lafay-Cousin Lucie  Soenen Valérie  Mazingue Françoise  Preudhomme Claude  Laï Jean-Luc  Andrieux Joris
Institution:

a INSERM Unité 524, Institut de Recherches sur le Cancer de Lille, 1 place de Verdun, 59000, Lille Cedex, France

b Laboratoire d'Hématologie, Hôpital Calmette, CHRU, Lille Cedex, France

c Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre, Barre Nord CHRU, 2 Avenue Oscar Lambret, 5309, Lille Cedex, France

d Service d'Hématologie Pédiatrique, Hôpital Jeanne de Flandre, CHRU, 2 Avenue Oscar Lambret, 5309, Lille Cedex, France

Abstract:Recurrent chromosomal rearrangements involving the 11q23 region have been described in various hematologic malignancies. Among these rearrangements, translocations are the most common mechanism involving the mixed lineage leukemia gene (MLL). Few cases of insertion have been reported and, to our knowledge, none of them involved MLL and chromosome 1. We report a complex karyotype in a childhood acute myelomonocytic leukemia (AML M4) involving the 11q23 region with an insertion between chromosomes 1 and 11 in addition to a translocation between chromosomes 11 and 22. This translocation was clarified by fluorescence in situ hybridization (FISH) analysis: 46,XY,ins(1;11)(q22not, vert, similarq23;q13q23),t(11;22)(q13;q11not, vert, similarq12). This finding also underlines the complementary contribution of conventional cytogenetic and FISH analysis to detect karyotypic complex abnormalities.
Keywords:
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