PMID- 10397745
OWN - NLM
STAT- MEDLINE
DCOM- 19990805
LR  - 20211203
IS  - 0006-4971 (Print)
IS  - 0006-4971 (Linking)
VI  - 94
IP  - 2
DP  - 1999 Jul 15
TI  - A new recurrent translocation, t(5;11)(q35;p15.5), associated with del(5q) in 
      childhood acute myeloid leukemia. The UK Cancer Cytogenetics Group (UKCCG).
PG  - 773-80
AB  - 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).
FAU - Jaju, R J
AU  - Jaju RJ
AD  - Leukaemia Research Fund Molecular Haematology Unit, University Department of 
      Cellular Science, and the Institute of Molecular Medicine, John Radcliffe 
      Hospital, Oxford, UK.
FAU - Haas, O A
AU  - Haas OA
FAU - Neat, M
AU  - Neat M
FAU - Harbott, J
AU  - Harbott J
FAU - Saha, V
AU  - Saha V
FAU - Boultwood, J
AU  - Boultwood J
FAU - Brown, J M
AU  - Brown JM
FAU - Pirc-Danoewinata, H
AU  - Pirc-Danoewinata H
FAU - Krings, B W
AU  - Krings BW
FAU - Muller, U
AU  - Muller U
FAU - Morris, S W
AU  - Morris SW
FAU - Wainscoat, J S
AU  - Wainscoat JS
FAU - Kearney, L
AU  - Kearney L
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Blood
JT  - Blood
JID - 7603509
SB  - IM
MH  - Adult
MH  - Anemia, Refractory, with Excess of Blasts/genetics/pathology
MH  - Cell Differentiation
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 11/*genetics/ultrastructure
MH  - Chromosomes, Human, Pair 5/*genetics/ultrastructure
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Leukemia, Myeloid, Acute/*genetics/mortality/pathology
MH  - Leukemia, Myelomonocytic, Acute/*genetics/mortality/pathology
MH  - Male
MH  - Myelodysplastic Syndromes/genetics/pathology
MH  - Nucleophosmin
MH  - Prognosis
MH  - Retrospective Studies
MH  - Survival Analysis
MH  - *Translocation, Genetic
EDAT- 1999/07/09 00:00
MHDA- 1999/07/09 00:01
CRDT- 1999/07/09 00:00
PHST- 1999/07/09 00:00 [pubmed]
PHST- 1999/07/09 00:01 [medline]
PHST- 1999/07/09 00:00 [entrez]
AID - S0006-4971(20)67467-5 [pii]
PST - ppublish
SO  - Blood. 1999 Jul 15;94(2):773-80.