Translocations as a mechanism for homozygous deletion of 13q14 and loss of the ATM gene in a patient with B-cell chronic lymphocytic leukemia

Herholz, Hannes; Kern, Wolfgang; Schnittger, Susanne; Haferlach, Torsten; Dicker, Frank; Haferlach, Claudia

doi:10.1016/j.cancergencyto.2006.11.006

Cited by 14 publications

(13 citation statements)

References 12 publications

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“…In this study, the majority of lesions missed by the SNP array were translocations; this dis- 24 For example, a deletion associated with the 13q14 translocation in Bcell leukemia pin-pointed a region of genetic importance in this disorder. 25 In marked contrast to del(5q) MDS patients none of the 5q-syndrome patients showed any additional copy number changes. Again, as with the mutation study referred to above, 23 this result is consistent with the good prognosis of the 5q-syndrome.…”

Section: Discussionmentioning

confidence: 99%

Genome-wide analysis of copy number changes and loss of heterozygosity in myelodysplastic syndrome with del(5q) using high-density single nucleotide polymorphism arrays

et al. 2008

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BackgroundWe undertook a genome wide single nucleotide polymorphism analysis of a spectrum of patients with myelodysplastic syndrome del(5q) in order to investigate whether additional genomic abnormalities occur. Single nucleotide polymorphism array analysis has been shown to detect not only gene deletions but also regions of uniparental disomy that can pinpoint particular regions for mutation analysis.

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Section: Discussionmentioning

confidence: 99%

Genome-wide analysis of copy number changes and loss of heterozygosity in myelodysplastic syndrome with del(5q) using high-density single nucleotide polymorphism arrays

et al. 2008

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“…These cytogenetic aberrations in CLL mainly include del(13q14), del(11q23) (ATM), +12, del(17p13) (p53), and del(6q21) (Hallek 2013;Kiefer et al 2012). Patients with del (13q) usually have a good prognosis and long-term survival, whereas those with del (17p) and del (11q) have a poor prognosis (Table 1) (Smolewski et al 2013;Herholz et al 2007). Translocations have been rarely reported in CLL, in- Xu et al 2009).…”

Section: Discussionmentioning

confidence: 94%

A case of chronic lymphoblastic leukemia with an abnormal rare karyotype

et al. 2014

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Chronic lymphoid leukemia (CLL) is a lymphoproliferative disorder with clonal proliferation and accumulation of mature B-cells in BM, peripheral blood, and secondary lymphoid organs. Most patients show del(13q), del(11q), +12, del(17p), and del(6q) genetic abnormalities, and chromosomal translocation has been rarely reported in them. We report a 43-year-old man diagnosed with CLL with two additional marker chromosome segments of unknown origin 48, XY, +mar, + mar analyzed by G-banded karyotype analysis. Peripheral blood smear revealed markedly increased white blood cell count (WBC, 84,000/mm 3 ) with predominance of lymphoid cells with dense chromatin. To our knowledge, this chromosomal abnormality in CLL has not been previously described, and we report it for the first time from Iran.

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“…Unlike TransFlip mutations, the inversions described in these lines were centromeric and the genetic material distal to the breakpoint was deleted on the derivative chromosome (in TransFlip mutations, the distal sequence participates in a separate translocation event). It is of interest to note that there are a couple of reports of translocations associated with TSG HDs, but these studies were done at the cytogenetic level and did not report inversions (Misawa et al, ; Herholz et al, ). It is possible that these represent unidentified TransFlip mutations that would have been recognized if the investigators had more detailed information, such as that provided by WGS.…”

Section: Discussionmentioning

confidence: 99%

Transflip mutations produce deletions in pancreatic cancer

Norris

Kamiyama

Makohon-Moore

et al. 2015

Genes Chromosomes & Cancer

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Pancreatic ductal adenocarcinoma (PDAC) is driven by the inactivation of the tumor suppressor genes (TSGs), CDKN2A (P16) and SMAD4 (DPC4), commonly by homozygous deletions (HDs). Using a combination of high density single-nucleotide polymorphism (SNP) microarray and whole genome sequencing (WGS), we fine-mapped novel breakpoints surrounding deletions of CDKN2A and SMAD4 and characterized them by their underlying structural variants (SVs). Only one third of CDKN2A and SMAD4 deletions (6 of 18) were simple interstitial deletions, rather, the majority of deletions were caused by complex rearrangements, specifically, a translocation on one side of the TSG in combination with an inversion on the other side. We designate these as “TransFlip” mutations. Characteristics of TransFlip mutations are: (1) a propensity to target the TSGs CDKN2A and SMAD4 (P < 0.005), (2) not present in the germline of the examined samples, (3) non-recurrent breakpoints, (4) relatively small (47 bp to 3.4 kb) inversions, (5) inversions can be either telomeric or centromeric to the TSG, and (6) non-reciprocal, and non-recurrent translocations. TransFlip mutations are novel complex genomic rearrangements with unique breakpoint signatures in pancreatic cancer. We hypothesize that they are a common but poorly understood mechanism of TSG inactivation in human cancer.

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Translocations as a mechanism for homozygous deletion of 13q14 and loss of the ATM gene in a patient with B-cell chronic lymphocytic leukemia

Cited by 14 publications

References 12 publications

Genome-wide analysis of copy number changes and loss of heterozygosity in myelodysplastic syndrome with del(5q) using high-density single nucleotide polymorphism arrays

Genome-wide analysis of copy number changes and loss of heterozygosity in myelodysplastic syndrome with del(5q) using high-density single nucleotide polymorphism arrays

A case of chronic lymphoblastic leukemia with an abnormal rare karyotype

Transflip mutations produce deletions in pancreatic cancer

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