دورية أكاديمية
أعرض في EDS

NGS panel enhance precise diagnosis of myeloid neoplasms under WHO-HAEM5 and International Consensus Classification: An observational study.

التفاصيل البيبلوغرافية
العنوان: NGS panel enhance precise diagnosis of myeloid neoplasms under WHO-HAEM5 and International Consensus Classification: An observational study.
المؤلفون: Ye X; Department of Laboratory Medicine, the Fourth Affiliated Hospital of School of Medicine, and International School of Medicine, International Institutes of Medicine, Zhejiang University, Yiwu, China., Zheng Z; Department of Laboratory Medicine, the Fourth Affiliated Hospital of School of Medicine, and International School of Medicine, International Institutes of Medicine, Zhejiang University, Yiwu, China., Wu Y; Social and Behavioral Sciences, University of Amsterdam, Netherlands., Zhang Z; Department of Laboratory Medicine, the Fourth Affiliated Hospital of School of Medicine, and International School of Medicine, International Institutes of Medicine, Zhejiang University, Yiwu, China., Xu Z; Department of Laboratory Medicine, the Fourth Affiliated Hospital of School of Medicine, and International School of Medicine, International Institutes of Medicine, Zhejiang University, Yiwu, China., Liu Y; Department of Hematology, the Fourth Affiliated Hospital of School of Medicine, and International School of Medicine, International Institutes of Medicine, Zhejiang University, Yiwu, China., Jiang L; Department of Laboratory Medicine of Zhejiang Provincial People's Hospital, Hangzhou, China., Wu J; Department of Laboratory Medicine, Hangzhou TCM Hospital Affiliated to Zhejiang Chinese Medical University, Hangzhou, Zhenjiang, China.
المصدر: Medicine [Medicine (Baltimore)] 2024 Jun 14; Vol. 103 (24), pp. e38556.
نوع المنشور: Journal Article; Observational Study
اللغة: English
بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Hagerstown, Md : Lippincott Williams & Wilkins
مواضيع طبية MeSH: High-Throughput Nucleotide Sequencing*/methods , Myeloproliferative Disorders*/genetics , Myeloproliferative Disorders*/diagnosis , Myeloproliferative Disorders*/classification , Myelodysplastic Syndromes*/genetics , Myelodysplastic Syndromes*/diagnosis , Myelodysplastic Syndromes*/classification , Mutation*, Humans ; Female ; Male ; Middle Aged ; Aged ; Adult ; Aged, 80 and over ; Janus Kinase 2/genetics ; World Health Organization ; Leukemia, Myeloid, Acute/genetics ; Leukemia, Myeloid, Acute/classification ; Leukemia, Myeloid, Acute/diagnosis ; Receptors, Thrombopoietin/genetics ; Calreticulin/genetics ; Young Adult
مستخلص: This study aimed to assess hematological diseases next-generation sequencing (NGS) panel enhances the diagnosis and classification of myeloid neoplasms (MN) using the 5th edition of the WHO Classification of Hematolymphoid Tumors (WHO-HAEM5) and the International Consensus Classification (ICC) of Myeloid Tumors. A cohort of 112 patients diagnosed with MN according to the revised fourth edition of the WHO classification (WHO-HAEM4R) underwent testing with a 141-gene NGS panel for hematological diseases. Ancillary studies were also conducted, including bone marrow cytomorphology and routine cytogenetics. The cases were then reclassified according to WHO-HAEM5 and ICC to assess the practical impact of these 2 classifications. The mutation detection rates were 93% for acute myeloid leukemia (AML), 89% for myelodysplastic syndrome (MDS), 94% for myeloproliferative neoplasm (MPN), and 100% for myelodysplasia/myeloproliferative neoplasm (MDS/MPN) (WHO-HAEM4R). NGS provided subclassified information for 26 and 29 patients with WHO-HAEM5 and ICC, respectively. In MPN, NGS confirmed diagnoses in 16 cases by detecting JAK2, MPL, or CALR mutations, whereas 13 "triple-negative" MPN cases revealed at least 1 mutation. NGS panel testing for hematological diseases improves the diagnosis and classification of MN. When diagnosed with ICC, NGS produces more classification subtype information than WHO-HAEM5.
Competing Interests: The authors have no conflicts of interest to disclose.
(Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.)
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المشرفين على المادة: EC 2.7.10.2 (Janus Kinase 2)
EC 2.7.10.2 (JAK2 protein, human)
0 (Receptors, Thrombopoietin)
143641-95-6 (MPL protein, human)
0 (Calreticulin)
0 (CALR protein, human)
تواريخ الأحداث: Date Created: 20240614 Date Completed: 20240614 Latest Revision: 20240726
رمز التحديث: 20240727
مُعرف محوري في PubMed: PMC11175920
DOI: 10.1097/MD.0000000000038556
PMID: 38875377
قاعدة البيانات: MEDLINE
الوصف
تدمد:1536-5964
DOI:10.1097/MD.0000000000038556