Del(5q) and MLL amplification in homogeneously staining region in acute myeloblastic leukemia: a recurrent cytogenetic association |
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Authors: | Angèle Herry Nathalie Douet-Guilbert Nadia Guéganic Frédéric Morel Marie-Josée Le Bris Christian Berthou Marc De Braekeleer |
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Institution: | (1) Laboratoire d’Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France;(2) Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest, France;(3) Institut de Cancérologie et d’Hématologie, CHU Morvan, Brest, France;(4) Laboratoire de Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, 22, avenue Camille Desmoulins, CS 93837, F-29238 Brest cedex 3, France |
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Abstract: | We report here a 71 year-old female presenting with acute myeloblastic leukemia (FAB-M1) after treatment of essential thrombocythemia
with Vercyte. Conventional cytogenetic techniques showed a complex karyotype, 44,XX,−5,−7,−11,add(11)(q23),−14,+mar,+r. The
use of several fluorescent in situ hybridizations (FISH) lead to the identification of these complex rearrangements. The marker
was found to be tricentric, with pericentromeric material of chromosome 7 inserted in the short arm of chromosome 5, resulting
in monosomy 5q and 7q. The derivative chromosome 11 was dicentric and had subtelomeric sequences of 11p on both ends; several
copies of the MLL gene were located in two different regions separated by a centromere of chromosome 11. Twenty-one cases, including ours,
of myelodysplastic syndromes and acute myelogenous leukemia with MLL amplification present in hsr or dmin were found in the literature. Most of these patients shared some characteristics: they
were old, they had de novo acute myeloid leukemia (AML) with a complex karyotype and a short survival, 90% of them having
also a del(5q). Therefore, the simultaneous presence of MLL amplification and del(5q) appears to be a nonrandom association that could be the signature of AML in elderly patients with
a poor prognosis. |
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Keywords: | Complex karyotype Acute myeloblastic leukemia Amplification MLL FISH |
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