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Blood, Vol. 94 No. 2 (July 15), 1999:
pp. 773-780
A New Recurrent Translocation, t(5;11)(q35;p15.5), Associated With
del(5q) in Childhood Acute Myeloid Leukemia
Rina J. Jaju,
Oskar A. Haas,
Michael Neat,
Jochen Harbott,
Vaskar Saha,
Jacqueline Boultwood,
Jill M. Brown,
Hendrati Pirc-Danoewinata,
Bernd W. Krings,
Ulrich Müller,
Stephan W. Morris,
James S. Wainscoat, and
Lyndal Kearney on behalf of the UK
Cancer Cytogenetics Group (UKCCG)
From the Leukaemia Research Fund Molecular Haematology Unit,
University Department of Cellular Science, and the Institute of
Molecular Medicine, John Radcliffe Hospital, Oxford, UK; the
Children's Cancer Research Institute, St Anna Children's Hospital,
Vienna, Austria; the ICRF Department of Medical Oncology, St
Bartholomew's Hospital, London, UK; the Oncogenetic Laboratory,
Children's University Hospital, Giessen, Germany; the Institute of
Human Genetics, Giessen, Germany; and the Department of Experimental
Oncology, St Jude Children's Research Hospital, Memphis, TN.
Partial deletion of the long arm of chromosome 5, del(5q), is the
cytogenetic hallmark of the 5q-syndrome, a distinct subtype of
myelodysplastic syndrome-refractory anemia (MDS-RA).
Deletions of 5q also occur in the full spectrum of other de novo and
therapy-related MDS and acute myeloid leukemia (AML) types, most often
in association with other chromosome abnormalities. However, the loss
of genetic material from 5q is believed to be of primary importance in
the pathogenesis of all del(5q) disorders. In the present study, we performed fluorescence in situ hybridization (FISH) studies using a
chromosome 5-specific whole chromosome painting probe and a 5q
subtelomeric probe to determine the incidence of cryptic
translocations. We studied archival fixed chromosome suspensions from
36 patients with myeloid disorders (predominantly MDS and AML) and
del(5q) as the sole abnormality. In 3 AML patients studied, this
identified a translocation of 5q subtelomeric sequences from the
del(5q) to the short arm of an apparently normal chromosome 11. FISH
with chromosome 11-specific subtelomeric probes confirmed the presence of 11p on the shortened 5q. Further FISH mapping confirmed that the 5q
and 11p translocation breakpoints were the same in all 3 cases, between
the nucleophosmin (NPM1) and fms-related tyrosine kinase 4 (FLT4) genes on 5q35 and the Harvey
ras-1-related gene complex (HRC) and the radixin
pseudogene (RDPX1) on 11p15.5. Importantly, all 3 patients with
the cryptic t(5;11) were children: a total of 3 of 4 AML children
studied. Two were classified as AML-M2 and the third was classified as
M4. All 3 responded poorly to treatment and had short survival times,
ranging from 10 to 18 months. Although del(5q) is rare in childhood
AML, this study indicates that, within this subgroup, the incidence of
cryptic t(5;11) may be high. It is significant that none of the 24 MDS patients studied, including 11 confirmed as having 5q-syndrome, had the
translocation. Therefore, this appears to be a new nonrandom chromosomal translocation, specifically associated with childhood AML
with a differentiated blast cell phenotype and the presence of a del(5q).
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