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

Affiliations
  • 1Department of Laboratory Medicine, Chonnam National University Medical School and Chonnam National University Hwasun Hospital, Hwasun, Korea. mgshin@chonnam.ac.kr
  • 2School of Biological Sciences and Technology, Chonnam National University, Gwangju, Korea.

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).


Reference

1. Lovly C, Sosman J, Pao W. KIT. My cancer genome. Updated on Jun 16, 2015. http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/kit/?tab=0.
2. Patel JP, Gönen M, Figueroa ME, Fernandez H, Sun Z, Racevskis J, et al. Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med. 2012; 366:1079–1089. PMID: 22417203.
Article
3. Döhner H, Weisdorf DJ, Bloomfield CD. Acute Myeloid Leukemia. N Engl J Med. 2015; 373:1136–1152. PMID: 26376137.
Article
4. Wheeler S, Seegmiller A, Vnencak-Jones C. KIT c.2447A>T (D816V) mutation in acute myeloid leukemia. Updated on Sep 9, 2013. http://www.mycancergenome.org/content/disease/acute-myeloid-leukemia/kit/275/.
5. Cairoli R, Beghini A, Grillo G, Nadali G, Elice F, Ripamonti CB, et al. Prognostic impact of c-KIT mutations in core binding factor leukemias: an Italian retrospective study. Blood. 2006; 107:3463–3468. PMID: 16384925.
Article
6. National Comprehensive Cancer Network. Acute Myeloid Leukemia (Version 1.2015). Updated on Dec 3, 2014. http://www.nccn.org/professionals/physician_gls/pdf/aml.pdf.
7. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009; 4:1073–1081. PMID: 19561590.
Article
8. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010; 7:248–249. PMID: 20354512.
Article
9. Adamczak R, Porollo A, Meller J. Accurate prediction of solvent accessibility using neural networks-based regression. Proteins. 2004; 56:753–767. PMID: 15281128.
Article
10. Cheson BD, Bennett JM, Kopecky KJ, Büchner T, Willman CL, Estey EH, et al. Revised recommendations of the international working group for diagnosis, standardization of response criteria, treatment outcomes, and reporting standards for therapeutic trials in acute myeloid leukemia. J Clin Oncol. 2003; 21:4642–4649. PMID: 14673054.
Article
Full Text Links
  • ALM
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr