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Acute myeloid leukemia (AML) is the second most frequent leukemia in childhood. The gene participates in hematopoietic stem cell proliferation. mutations are recurrent in AML and influence prognosis. In Mexican pediatric AML patients, mutational profile, and their clinical impact have not been evaluated. This study aimed to identify the profile of mutations in pediatric patients with AML and to assess their possible influence on overall survival (OS) and other clinical features. Massive parallel target sequencing of was performed in 80 patients. mutations [internal tandem duplication (ITD) or tyrosine kinase domain (TKD)] were identified in 24% of them. OS was significantly lower in cases than in ( = 0.03). The average OS for was 1.2 vs. 2.2 years in . There were no significant differences in the children's sex, age, percentage of blasts in bone marrow aspirate, or white blood cell count in peripheral blood at diagnosis between both groups. No differences were identified stratifying by the mutational load (high > 0.4) or type of mutation. The negative effect of mutations was also observed in patients with acute promyelocytic leukemia (APL). mutational profile is described in Mexican pediatric AML patients for the first time. Mutated negatively impacts the outcome of AML patients, even considering the APL group. The clinical benefit from treatment with tyrosine kinase inhibitors in the pediatric patients needs to be assessed in clinical trials. testing may contribute to better risk stratification in our pediatric AML patients.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7525023 | PMC |
http://dx.doi.org/10.3389/fped.2020.00586 | DOI Listing |
Background: Nucleophosmin 1 (NPM1) mutations represent one of the most frequent genetic alterations in acute myeloid leukemia (AML). However, the prognostic significance of concurrent molecular abnormalities and clinical features in NPM1-mutated AML remains to be fully elucidated.
Methods: We retrospectively analyzed 73 adult AML patients with NPM1 mutations.
Background: This study aimed to identify the diagnostic and prognostic ability of serum miR-411-3p in patients with acute myeloid leukemia (AML).
Methods: Blood samples were collected from 60 AML patients and 60 healthy controls to measure serum miR-411-3p and thereafter discuss its potential clinical value.
Results: Serum miR-411-3p was decreased in AML patients and was even lower in those with M4/M5 subtypes or high white blood cell count or adverse cytogenetic risk.
Background: Angioimmunoblastic T-cell lymphoma (AITL) is a rare and aggressive form of peripheral T-cell lymphoma, accounting for 1 - 2% of non-Hodgkin lymphomas. Diagnosis is challenging, and there is no established standard first-line treatment. This case report highlights a rare progression from AITL to therapy-related acute myeloid leukemia (AML-pCT) following cytotoxic chemotherapy.
View Article and Find Full Text PDFBackground: This study aims to gain further insights into the characteristics of the rare subtype of acute myeloid leukemia (AML) with BCR∷ABL by analyzing laboratory detection results of various gene mutations, such as NPM1.
Methods: Laboratory detection results of multiple gene missense mutations, including NPM1, were analyzed in a case of primary AML with BCR∷ABL.
Results: The patient exhibited morphological features of acute leukemia in the bone marrow.
Eur J Haematol
September 2025
Department of Hematology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Background: Polymerase chain reaction (PCR)-based Minimal residual disease (MRD) detection is commonly used for core-binding factor acute myeloid leukemia (CBF-AML), but its interpretation in the context of allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains under discussion.
Method: Using Kyoto Stem Cell Transplantation Group registry data, we included 96 patients who underwent allo-HSCT between 2000 and 2019 for CBF-AML.
Results: To assess MRD, quantitative PCR with GAPDH control was most used.