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      Characteristics of Molecular Genetic Mutations and Their Correlation with Prognosis in Adolescent and Adult Patients with Acute Lymphoblastic Leukemia

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          Abstract

          Introduction: The prognosis of acute lymphoblastic leukemia (ALL) in adolescents and adults is poor, and recurrence is an important cause of their death. Changes of genetic information play a vital role in the pathogenesis and recurrence of ALL; however, the impact of molecular genetic mutations on disease diagnosis and prognosis remains unexplored. This study aimed to explore the frequency spectrum of gene mutations and their prognostic significance, along with the minimal residual disease (MRD) level and hematopoietic stem cell transplantation (HSCT), in adolescent and adult patients aged ≥15 years with ALL. Methods: The basic characteristics, cytogenetics, molecular genetics, MRD level, treatment regimen, and survival outcome of patients with untreated ALL (≥15 years) were collected, and the correlation and survival analysis were performed using the SPSS 25.0 and R software. Results: This study included 404 patients, of which 147 were selected for next-generation sequencing (NGS). NGS results revealed that 91.2% of the patients had at least one mutation, and 67.35% had multiple (≥2) mutations. NOTCH1, PHF6, RUNX1, PTEN, JAK3, TET2, and JAK1 were the most common mutations in T-ALL, whereas FAT1, TET2, NARS, KMT2D, FLT3, and RELN were the most common mutations in B-ALL. Correlation analysis revealed the mutation patterns, which were significantly different between T-ALL and B-ALL. In the prognostic analysis of 107 patients with B-ALL, multivariate analysis showed that the number of mutations ≥5 was an independent risk factor for overall survival and the RELN mutation was an independent poor prognostic factor for event-free survival. Discussion: The distribution of gene mutations and the co-occurrence and repulsion of mutant genes in patients with ALL were closely related to the immunophenotype of the patients. The number of mutations ≥5 and the RELN mutation were significantly associated with poor prognosis in adolescent and adult patients with ALL.

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          Author and article information

          Journal
          OCL
          Oncology
          10.1159/issn.0030-2414
          Oncology
          Oncology
          S. Karger AG
          0030-2414
          1423-0232
          2024
          January 2024
          12 July 2023
          : 102
          : 1
          : 85-98
          Affiliations
          [_a] aDepartment of Hematology, Shandong Provincial Hospital, Shandong University, Jinan, China
          [_b] bDepartment of Hematology, The Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, China
          [_c] cDepartment of Hematology, The Affiliated Hospital of Qingdao University, Qingdao, China
          [_d] dDepartment of Hematology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, China
          [_e] eSchool of Medicine, Shandong University, Jinan, China
          [_f] fShandong Provincial Engineering Research Center of Lymphoma, Jinan, China
          Author notes
          *Xiaosheng Fang, fxsh_1010@126.com
          Author information
          https://orcid.org/0000-0003-2199-238X
          Article
          531522 Oncology 2024;102:85–97
          10.1159/000531522
          37437551
          bdc23e6e-101b-4205-92a2-e08b38da06ea
          © 2023 S. Karger AG, Basel

          Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.

          History
          : 03 February 2023
          : 23 May 2023
          Page count
          Figures: 3, Tables: 3, Pages: 13
          Funding
          This study was supported by Technology Projects of Jinan (No.202019044); 2021 Shandong Medical Association Clinical Research Fund – Qilu Special Project; Young Scholars Research of the Chinese Medical Association Hematology – Sansheng Pharmaceutical Project.
          Categories
          Research Article

          Medicine
          Minimal residual disease,Molecular genetic mutations,Acute lymphoblastic leukemia,Hematopoietic stem cell transplantation

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