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Case Reports
. 2012 Jun;26(6):1422-5.
doi: 10.1038/leu.2011.354. Epub 2011 Dec 16.

Mast-cell Leukemia Exome Sequencing Reveals a Mutation in the IgE Mast-Cell Receptor β Chain and KIT V654A

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Case Reports

Mast-cell Leukemia Exome Sequencing Reveals a Mutation in the IgE Mast-Cell Receptor β Chain and KIT V654A

M S Spector et al. Leukemia. .
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Figures

Figure 1
Figure 1
Hemizygous deletion of chromosome 10q21.1 detected by high-resolution SNP array in leukemic cells and independent sequence confirmation for two non-synonymous somatic tumor variants. (a) The majority of chromosome 10 has 2N copy number (CN) and heterozygous B allele frequency (BAF), except for a hemizygous deletion (b) of chromosome 10q21.1; 2.6 Mb (chr10:54,305,820 – 56,908,099). This region encompasses one protein coding gene, PCDH15, and one microRNA gene, hsa-mir-548f-1. (c and d) Germline (saliva DNA) and tumor (leukemic) DNA were PCR amplified for (c) KIT (top two panels) and (d) MS4A2 (bottom two panels), and capillary sequenced. The germline genotype for KIT is homozygous T/T; GTG encodes for Valine 654. The tumor is heterozygous T/C; GCG encodes for Alanine. The germline genotype for MS4A2 is homozygous C/C; CTC encodes for Leucine 188. The tumor is heterozygous C/T; TTC encodes for Phenylalanine.

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