We analyzed mutations in four genes (FLT3, KRAS/NRAS and PTPN11) that might disrupt the RAS/mitogen activated protein kinase (MAPKinase) signaling pathway, to evaluate their prognostic value in children younger than 16 years old with B-cell precursor acute lymphoblastic leukemia (Bcp-ALL). The overall survival (OS) was determined with the Kaplan-Meier method. MAPKinase genes were mutated in 25.4% and 20.1% of childhood and infant Bcp-ALL, respectively. Children with hyperdiploidy were more prone to harboring a MAPKinase gene mutation (odds ratio [OR] 3.18; 95% confidence interval [CI] 1.07-9.49). The mean OS of all cases was 54.0 months. FLT3 and PTPN11 mutations had no impact on OS. K/NRAS mutations were strongly associated with MLL-AFF1 (OR 5.78; 95% CI 1.00-33.24), and conferred poorer OS (p = 0.034) in univariate analysis.
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http://dx.doi.org/10.3109/10428194.2013.847934 | DOI Listing |
Zhongguo Shi Yan Xue Ye Xue Za Zhi
August 2024
Department of Hematology, Wuxi Second People's Hospital, Wuxi 214001, Jiangsu Province, China.
Objective: To investigate the incidence of gene mutation and its associated gene mutations in adult patients with acute myeloid leukemia (AML), and analyze its clinical characteristics.
Methods: Second-generation sequencing and Sanger sequencing were used to detect 51 gene mutations, and multiplex-PCR was used to detect 41 fusion genes from 451 newly diagnosed adult AML patients admitted to Affiliated Hospital of Jiangnan University, Changzhou Second People's Hospital, Wuxi People's Hospital and Wuxi Second People's Hospital from January 2017 to July 2022.
Results: Among 451 primary adult AML patients, the gene mutation was detected in 34 cases, and the mutation rate was 7.
Ann Hematol
August 2024
Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
Erdheim-Chester disease (ECD) is a rare histiocytosis that tends to co-exist with other myeloid malignancies. Here, we use genetic and transcriptomic sequencing to delineate a case of co-occurring BRAF-mutated ECD and acute myeloid leukemia (AML), followed by AML remission and relapse. The AML relapse involved the extinction of clones with KMT2A-AFDN and FLT3-ITD, and the predominance of PTPN11-mutated subclones with distinct transcriptomic features.
View Article and Find Full Text PDFSaudi J Biol Sci
July 2024
College of Agricultural Engineering Sciences, Salahaddin University-Erbil, Erbil, Kurdistan Region, Iraq.
MicroRNAs (miRNAs) are key regulators in Acute Myeloid Leukemia AML, affecting gene expression, including that of CD markers and impacting mutations within leukemic cells. Mutations in AML can alter miRNA profiles, which can affect the expression of CD markers and contribute to disease progression by influencing cellular processes such as differentiation, proliferation, and apoptosis. Here, we examined the interplay of cell surface protein expression (CD markers), DNA mutations, and microRNA expression in AML patients.
View Article and Find Full Text PDFCancer Pathog Ther
April 2024
Department of Hematology, Senior Department of Hematology, The Fifth Medical Center of PLA General Hospital, Beijing 100039, China.
Background: Acute myeloid leukemia (AML) is a heterogeneous hematopoietic malignancy whose prognosis is associated with several biomarkers. Decitabine, a deoxyribonucleic acid (DNA) methyltransferase (DNMT) inhibitor, combined with cytarabine, aclarubicin hydrochloride, and granulocyte colony-stimulating factor (DCAG), has been used in patients newly diagnosed with AML. This regimen has been especially used in older and fragile patients who are immunocompromised or have co-morbidities, as well as those with specific gene mutations.
View Article and Find Full Text PDFHematol Oncol
May 2024
Department of Pediatric Hematology/Oncology, Children's Medical Center, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.
The next-generation sequencing technologies application discovers novel genetic alterations frequently in pediatric acute lymphoblastic leukemia (ALL). RAS signaling pathway mutations at the time of relapse ALL frequently appear as small subclones at the time of onset, which are considered as the drivers in ALL relapse. Whether subclones alterations in the RAS signaling pathway should be considered for risk group stratification of ALL treatment is not decided yet.
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