scholarly journals Mutational and expression analysis of the chromosome 12p candidate tumor suppressor genes in pre-B acute lymphoblastic leukemia

Leukemia ◽  
2004 ◽  
Vol 18 (9) ◽  
pp. 1499-1504 ◽  
Author(s):  
A Montpetit ◽  
J Larose ◽  
G Boily ◽  
S Langlois ◽  
N Trudel ◽  
...  
2005 ◽  
Vol 29 (11) ◽  
pp. 1271-1276 ◽  
Author(s):  
Anatoly M. Kustanovich ◽  
Tatjana V. Savitskaja ◽  
Oleg I. Bydanov ◽  
Michael V. Belevtsev ◽  
Michael P. Potapnev

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Moneeb A. K. Othman ◽  
Martina Rincic ◽  
Joana B. Melo ◽  
Isabel M. Carreira ◽  
Eyad Alhourani ◽  
...  

Acute leukemia often presents with pure chromosomal resolution; thus, aberrations may not be detected by banding cytogenetics. Here, a case of 26-year-old male diagnosed with T-cell acute lymphoblastic leukemia (T-ALL) and a normal karyotype after standard GTG-banding was studied retrospectively in detail by molecular cytogenetic and molecular approaches. Besides fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and high resolution array-comparative genomic hybridization (aCGH) were applied. Thus, cryptic chromosomal aberrations not observed before were detected: three chromosomes were involved in a cytogenetically balanced occurring translocation t(2;9;18)(p23.2;p21.3;q21.33). Besides a translocation t(10;14)(q24;q11) was identified, an aberration known to be common in T-ALL. Due to the three-way translocation deletion of tumor suppressor genes CDKN2A/INK4A/p16, CDKN2B/INK4B/p15, and MTAP/ARF/p14 in 9p21.3 took place. Additionally RB1 in 13q14 was deleted. This patient, considered to have a normal karyotype after low resolution banding cytogenetics, was treated according to general protocol of anticancer therapy (ALL-BFM 95).


Blood ◽  
1996 ◽  
Vol 87 (8) ◽  
pp. 3368-3374 ◽  
Author(s):  
S Takeuchi ◽  
CR Bartram ◽  
CW Miller ◽  
A Reiter ◽  
T Seriu ◽  
...  

Cytogenetic analysis of acute lymphoblastic leukemia (ALL) of childhood identified nonrandom chromosomal abnormalities of the short arm of chromosome 12. The alterations include deletions that are thought to be indicative of the presence of a tumor suppressor gene that is mutated on the remaining allele. To refine further the chromosomal localization of this gene, we analyzed the loss of heterozygosity (LOH) of chromosome 12 in 100 primary ALL samples using 22 polymorphic markers and identified two distinct smallest common deleted regions on chromosome 12p13. One region is flanked by D12S77 and D12S98 and has a size of 4 cM. Twenty-six percent of informative patients showed LOH in this region. This region may contain the TEL gene. The other region is flanked by D12S269 and D12S308 including the KIP1 gene. Forty-four percent of informative patients showed LOH in this second region. Mutational analysis of KIP1 using polymerase chain reaction-single- strand conformation polymorphism analysis and Southern blot analysis showed no homozygous deletions and point mutations suggesting that the altered gene in this second region is not the KIP1. Clinical data showed that LOH of 12p was demonstrated more frequently in precursor-B ALLs (32 of 80; 40%) than in T-ALLs (1 of 20; 5%) (P = .0027). Furthermore, patients with 12p LOH were younger (P = .013), with a lower DNA index (P = .046), but they had the same survival rates at 3 years. In summary, these data suggest that two different tumor suppressor genes are on chromosome arm 12p, which act separately in the development of childhood precursor-B ALLs. One of the tumor suppressor genes is in the region the KIP1 gene, but our data suggest this gene is not abnormal. The other target is in the region of the TEL gene; and this candidate deserves further study.


2013 ◽  
Vol 2 ◽  
pp. 121-128 ◽  
Author(s):  
Ewa Studniak ◽  
Eliza Maloney ◽  
Tomasz Ociepa ◽  
Tomasz Urasiński ◽  
Katarzyna Skonieczka ◽  
...  

Blood ◽  
2008 ◽  
Vol 111 (2) ◽  
pp. 480-481
Author(s):  
Beverly Lange

Genome-wide studies reveal somatically acquired regions of uniparental isodisomy (UPD) in 25% of pediatric acute lymphoblastic leukemia (ALL). These regions probably contain tumor-suppressor genes involved in pathogenesis.


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