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. 2010 Jan;24(1):216-9.
doi: 10.1038/leu.2009.189. Epub 2009 Sep 17.

TP53 mutations in myeloid malignancies are either homozygous or hemizygous due to copy number-neutral loss of heterozygosity or deletion of 17p

TP53 mutations in myeloid malignancies are either homozygous or hemizygous due to copy number-neutral loss of heterozygosity or deletion of 17p

M Jasek et al. Leukemia. 2010 Jan.
No abstract available

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Conflict of interest statement

Conflict of interest The authors declare no conflict of interest

Figures

Figure 1
Figure 1
(A) Summary of LOH17p detected by SNP-A. Lesions of chromosome 17p detected by SNP-A for individual patients are shown (N=21). Blue bars indicate deleted regions. Red bars designate areas of acquired somatic copy neutral loss of heterozygosity (CN-LOH). The commonly deleted region (CDR) is marked by black lines. (B) 6.0 SNP-A “karyograms” of whole bone marrow and CD3+ lymphocytes for two representative patients show the somatic origin of acquired CN-LOH and deletion of chromosome 17p. Red dots (The Allele Difference graph) illustrate the genotypes for each individual SNP. Dots with a value of 1 represent SNPs with an “AA” genotype; those with a value of −1 indicate SNPs with “BB” genotype and dots at 0 represent heterozygous “AB” SNPs. Complete loss of all SNPs with “AB” genotype indicates regions of LOH. The blue line (black arrow) represents log2 ratio between patient sample and reference signal intensity. In the bone marrow of patient 16, SNP-A detected copy-neutral LOH (17)(p13.3p11.2) designated by loss of “AB” SNPs and no changes in log2 ratio. For patient 1, bone marrow SNP-A detected a deletion (17)(p13.3p11.2) indicated by loss of “AB” SNPs, reduction in allele difference and log2 ratio. In sorted CD3+ lymphocytes of patient 16 and 1, a normal chromosome 17 is seen. (C) Kaplan-Meier analysis of survival of patients with CN-LOH17p and del(17p). (D) Distribution of TP53 mutation in MDS/AML patients with and without LOH17p

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