Ann Lab Med.  2016 Jul;36(4):371-374. 10.3343/alm.2016.36.4.371.

A Novel KIT INDEL Mutation in Acute Myeloid Leukemia With t(8;21)(q22;q22); RUNX1-RUNX1T1

• Lee JH
• Park C
• Kim SH
• Shin MG

• KMID: 2373559
• DOI: http://doi.org/10.3343/alm.2016.36.4.371

Abstract

No abstract available.

MeSH Terms

Adult
Amino Acid Sequence
Bone Marrow/metabolism/pathology
Chromosomes, Human, Pair 21
Chromosomes, Human, Pair 8
Core Binding Factor Alpha 2 Subunit/*genetics
Exons
Female
Humans
INDEL Mutation
Leukemia, Myeloid, Acute/*genetics/pathology
Multiplex Polymerase Chain Reaction
Proto-Oncogene Proteins/*genetics
Proto-Oncogene Proteins c-kit/*genetics
Transcription Factors/*genetics
*Translocation, Genetic
Core Binding Factor Alpha 2 Subunit
Proto-Oncogene Proteins
Proto-Oncogene Proteins c-kit
Transcription Factors

Figure

• 

  Fig. 1 (A) Bone marrow aspirate smear showing blasts presenting an abundant granular cytoplasm with perinuclear clearing, large orange-pink granules, and distinct Auer rods (Wright-Giemsa stain, ×1,000). (B) Result of real-time allele-specific PCR for KIT mutation (Real-Q C-KIT). The amplification curve of the patient sample (threshold cycle [Ct]: 29.4) and the amplification curve of positive control (Ct: 26.1) for KIT mutation screening are presented as the green and red line, respectively. The other amplification curves for KIT mutation genotyping such as D816V, D816Y, and D816H are not shown (not amplified). Rn is the normalized fluorescence signal of the reporter dye and ΔRn is Rn minus the baseline. The threshold of ΔRn is 0.1 and the cutoff value for KIT mutation positive is less than or equal to 38 as Ct. (C) Results of sequencing analysis of codon 815–817 of the KIT. The original sequence of the patient is presented (upper sequence) as well as the sequence of the wild-type allele after allele separation (middle sequence) and the sequence of the mutant allele after allele-separation (lower sequence). (D) Results of the in-silico prediction of protein structure and characteristics by SABLE. Wild-type (upper structure); D816V mutation (middle structure); D816_I817delinsLL mutation (lower structure). The highlighted background (blue) represents hydrophobic amino acids. The detail properties are explained in the POLYVIEW-2D documentation (http://polyview.cchmc.org/polyview_doc.html).

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