Article

Letter to the Editor

Ann Lab Med 2019; 39(3): 327-329

Published online May 1, 2019 https://doi.org/10.3343/alm.2019.39.3.327

Copyright © Korean Society for Laboratory Medicine.

FLT3 Internal Tandem Duplication in Patients With Acute Myeloid Leukemia Is Readily Detectable in a Single Next-Generation Sequencing Assay Using the Pindel Algorithm

Borahm Kim, M.D.1, SooJeong Kim, M.D.2, Seung-Tae Lee, M.D.1, Yoo Hong Min, M.D.2, and Jong Rak Choi , M.D.1

Departments of 1Laboratory Medicine and 2Internal Medicine, Yonsei University College of Medicine, Seoul, Korea

Correspondence to: Jong Rak Choi, M.D. https://orcid.org/0000-0002-0608-2989
Department of Laboratory Medicine, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun-gu, Seoul 03722, Korea
Tel: +82-2-2228-2441,
Fax: +82-2-364-1583,
E-mail: cjr0606@yuhs.ac

Received: May 14, 2018; Revised: September 29, 2018; Accepted: December 11, 2018

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Fig. 1.

Correlation of the ITD mutant allele fraction between fragment analysis and the Pindel (0.2.0) algorithm for patients harboring FLT3 ITD mutation.

Abbreviation: ITD, internal tandem duplication.


  1. National Comprehensive Cancer Network. Acute Myeloid Leukemia (Version 2.2018) https://www.nccn.org/professionals/physician_gls/pdf/aml.pdf. (Updated on Aug 2018, registration required).
  2. Chevallier P, Labopin M, Turlure P, Prebet T, Pigneux A, Hunault M, et al. A new Leukemia Prognostic Scoring System for refractory/relapsed adult acute myelogeneous leukaemia patients: a GOELAMS study. Leukemia 2011;25:939-944.
    Pubmed
  3. Döhner H, Estey E, Grimwade D, Amadori S, Appelbaum FR, Büchner T, et al. Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel. Blood 2017;129:424-447.
    Pubmed
  4. Degryse S, Cools J. JAK kinase inhibitors for the treatment of acute lymphoblastic leukemia. J Hematol Oncol 2015;8:91.
    Pubmed
  5. Wander SA, Levis MJ, Fathi AT. The evolving role of FLT3 inhibitors in acute myeloid leukemia: quizartinib and beyond. Ther Adv Hematol 2014;5:65-77.
    Pubmed
  6. Li H. Toward better understanding of artifacts in variant calling from high-coverage samples. Bioinformatics 2014;30:2843-2851.
    Pubmed
  7. Cibulskis K, Lawrence MS, Carter SL, Sivachenko A, Jaffe D, Sougnez C, et al. Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. Nat Biotechnol 2013;31:213-219.
    Pubmed
  8. Ye K, Schulz MH, Long Q, Apweiler R, Ning Z. Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics 2009;25:2865-2871.
    Pubmed
  9. Zwaan CM, Meshinchi S, Radich JP, Veerman AJ, Huismans DR, Munske L, et al. FLT3 internal tandem duplication in 234 children with acute myeloid leukemia: prognostic significance and relation to cellular drug resistance. Blood 2003;102:2387-2394.
    Pubmed
  10. Spencer DH, Abel HJ, Lockwood CM, Payton JE, Szankasi P, Kelley TW, et al. Detection of FLT3 internal tandem duplication in targeted, short-read-length, next-generation sequencing data. J Mol Diagn 2013;15:81-93.
    Pubmed