دورية أكاديمية
أعرض في EDS

Evaluation of next-generation sequencing for measurable residual disease monitoring in three major fusion transcript subtypes of B-precursor acute lymphoblastic leukaemia.

التفاصيل البيبلوغرافية
العنوان: Evaluation of next-generation sequencing for measurable residual disease monitoring in three major fusion transcript subtypes of B-precursor acute lymphoblastic leukaemia.
المؤلفون: Huang YJ; Division of Hematology-Oncology, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan., Chen SH; College of Medicine, Chang Gung University, Taoyuan, Taiwan; Department of Hematology-Oncology, Chang Gung Children's Hospital at Linkou, Taoyuan, Taiwan., Liu HC; Department of Hematology-Oncology, MacKay Children's Hospital and Mackay Medical College, Taipei, Taiwan., Jaing TH; College of Medicine, Chang Gung University, Taoyuan, Taiwan; Department of Hematology-Oncology, Chang Gung Children's Hospital at Linkou, Taoyuan, Taiwan., Yeh TC; Department of Hematology-Oncology, MacKay Children's Hospital and Mackay Medical College, Taipei, Taiwan., Kuo MC; Division of Hematology-Oncology, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan; College of Medicine, Chang Gung University, Taoyuan, Taiwan., Lin TL; Division of Hematology-Oncology, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan., Chen CC; Division of Hematology-Oncology, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan., Wang SC; Division of Pediatric Hematology-Oncology, Changhua Christian Children's Hospital, Changhua, Taiwan., Chang TK; Division of Pediatric Hematology and Oncology, China Medical University Children's Hospital, Taichung, Taiwan., Hsiao CC; College of Medicine, Chang Gung University, Taoyuan, Taiwan; Department of Pediatrics, Chang Gung Memorial Hospital at Kaohsiung, Kaohsiung, Taiwan., Liang DC; Department of Hematology-Oncology, MacKay Children's Hospital and Mackay Medical College, Taipei, Taiwan., Shih LY; Division of Hematology-Oncology, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan; College of Medicine, Chang Gung University, Taoyuan, Taiwan. Electronic address: sly7012@adm.cgmh.org.tw.
المصدر: Pathology [Pathology] 2024 Aug; Vol. 56 (5), pp. 681-687. Date of Electronic Publication: 2024 Apr 18.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 0175411 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1465-3931 (Electronic) Linking ISSN: 00313025 NLM ISO Abbreviation: Pathology Subsets: MEDLINE
أسماء مطبوعة: Publication: Jan. 2011- : London : Lippincott Williams & Wilkins
Original Publication: [Surry Hills, NSW, etc., Modern Medicine, etc.]
مواضيع طبية MeSH: Neoplasm, Residual*/genetics , Neoplasm, Residual*/diagnosis , High-Throughput Nucleotide Sequencing* , Oncogene Proteins, Fusion*/genetics , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/genetics , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/diagnosis , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/pathology, Humans ; Female ; Male ; Adolescent ; Adult ; Child ; Middle Aged ; Young Adult ; Child, Preschool ; Core Binding Factor Alpha 2 Subunit/genetics ; Fusion Proteins, bcr-abl/genetics
مستخلص: The use of next-generation sequencing (NGS) for monitoring measurable residual disease (MRD) in acute lymphoblastic leukaemia (ALL) has been gaining traction. This study aimed to investigate the utility of NGS in MRD monitoring for the three major fusion transcript (FT) subtypes of B-precursor ALL (B-ALL). The MRD results for 104 bone marrow samples from 56 patients were analysed through NGS and real time quantitative reverse transcription PCR (RT-qPCR) for the three major FTs: BCR::ABL1, TCF3::PBX1, and ETV6::RUNX1. To validate the NGS approach, NGS-MRD was initially compared with allele-specific oligonucleotide-qPCR-MRD, and the coefficient of determination was good (R 2 =0.8158). A subsequent comparison of NGS-MRD with FT-MRD yielded a good coefficient of determination (R 2 =0.7690), but the coefficient varied by subtype. Specifically, the R 2 was excellent for TCF3::PBX1 ALL (R 2 =0.9157), good for ETV6::RUNX1 ALL (R 2 =0.8606), and subpar for BCR::ABL1 ALL (R 2 =0.5763). The overall concordance between the two methods was 83.7%, and an excellent concordance rate of 95.8% was achieved for TCF3::PBX1 ALL. Major discordance, which was defined as a >1 log difference between discordant NGS-MRD and FT-MRD, occurred in 6.7% of the samples, with all but one sample being BCR::ABL1 ALL. Among the four non-transplanted patients with BCR::ABL1-MRD (+)/NGS-MRD (-), three did not relapse after long-term follow-up. Our finding indicates that NGS-MRD has a better prognostic impact than RT-qPCR-MRD in ETV6::RUNX1 and BCR::ABL1 ALL, whereas in TCF3::PBX1 ALL, both methods exhibit comparable efficacy.
(Copyright © 2024 Royal College of Pathologists of Australasia. Published by Elsevier B.V. All rights reserved.)
فهرسة مساهمة: Keywords: BCR::ABL1; ETV6::RUNX1; NGS; RT-qPCR; TCF3::PBX1; measurable residual disease
المشرفين على المادة: 0 (Oncogene Proteins, Fusion)
0 (Core Binding Factor Alpha 2 Subunit)
EC 2.7.10.2 (Fusion Proteins, bcr-abl)
تواريخ الأحداث: Date Created: 20240508 Date Completed: 20240705 Latest Revision: 20240705
رمز التحديث: 20240706
DOI: 10.1016/j.pathol.2024.02.008
PMID: 38719770
قاعدة البيانات: MEDLINE
الوصف
تدمد:1465-3931
DOI:10.1016/j.pathol.2024.02.008