Genetic Diversity in KMT2A‐r and KMT2A‐Wt Groups: Assessing the Prognostic Value of Markers in BCPALL Among Infants DOI

Karina Ilyasova,

Elena Zerkalenkova, Olga Soldatkina

et al.

International Journal of Laboratory Hematology, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 25, 2025

ABSTRACT Background/Objectives Infant BCP‐ALL is classified into KMT2A ‐r and ‐wt groups, both showing heterogeneity. rearrangements indicate poor prognosis, but outcomes vary by fusion partner. The group includes cases in the B‐other ALL subgroup, with unclear prognostic significance. We aim to improve understanding of molecular subtypes ‐wt, focusing on NUTM1 PAX5 rearrangements. Methods analyzed 175 infants (aged 0–365 days) diagnosed from 2010 2023 at Dmitry Rogachev National Medical Research Center Pediatric Hematology, Oncology Immunology. Genomic aberrations were identified karyotyping, FISH RNA‐seq. RNA‐seq was performed using Illumina, gene fusions validated Sanger sequencing. Results There no difference survival based partner genes. KMT2A::AFF1 showed similar other partners, 2‐year EFS 36% (95% CI, 21%–59%) versus 37% 23%–60%) (log‐rank test, p = 0.9). In ( n 33, 17.7% cases), NUTM1‐r 9) PAX5‐r 10) accounted for 27% 30.3%, respectively. groups excellent rates, 80% 52%–100%) 100% 100%–100%), respectively, small cohort size limit statistical power analysis Conclusions Survival did not differ a favorable ‐rearranged patients had better than previously reported. group, most common fusion, BRD9:NUTM1 , variability breakpoints (Exons 3, 8, 14 BRD9 ).

Language: Английский

Aspergillus flavus with Mycovirus as an Etiologic Factor for Acute Leukemias in Susceptible Individuals: Evidence and Discussion DOI Creative Commons
Cameron K. Tebbi, Eva Sahakian, Bijal Shah

et al.

Biomedicines, Journal Year: 2025, Volume and Issue: 13(2), P. 488 - 488

Published: Feb. 17, 2025

Several etiologic factors for the development of acute leukemias have been suggested; however, none is applicable to all cases. We isolated a certain mycovirus-containing Aspergillus flavus (MCAF) from home patient with lymphoblastic leukemia. Repeated electron microscopic evaluations proved existence mycovirus in this organism. According chemical analysis, organism does not produce any aflatoxin, possibly due its infestation mycoviruses. reported that using ELISA technique, forty pediatric patients leukemia (ALL) uniformly had antibodies products MCAF. In contrast, three separate groups controls, consisting normal blood donors, individuals solid tumors, and sickle cell disease, were negative. vitro exposure mononuclear cells ALL, full remission, MCAF induced redevelopment surface phenotypes genetic markers characteristic ALL. The controls incubation ALL lines resulted significant cellular apoptosis, changes cycle, downregulation transcription factors, including PAX-5 Ikaros (75 55 kDa). Fungi are widespread nature, many contain Normally, an individual inhales 1 10 fungal spores per minute, while farmers can inhale up 75,000 minute. It known foresters, who more exposed fungi, higher rate asthmatics, most whom allergic agents, working office settings lower rate. One theories suggests predisposition followed by infectious agent. With above findings, we propose may etiological role leukemogenesis immune-depressed genetically susceptible individuals.

Language: Английский

Citations

0

Genetic Diversity in KMT2A‐r and KMT2A‐Wt Groups: Assessing the Prognostic Value of Markers in BCPALL Among Infants DOI

Karina Ilyasova,

Elena Zerkalenkova, Olga Soldatkina

et al.

International Journal of Laboratory Hematology, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 25, 2025

ABSTRACT Background/Objectives Infant BCP‐ALL is classified into KMT2A ‐r and ‐wt groups, both showing heterogeneity. rearrangements indicate poor prognosis, but outcomes vary by fusion partner. The group includes cases in the B‐other ALL subgroup, with unclear prognostic significance. We aim to improve understanding of molecular subtypes ‐wt, focusing on NUTM1 PAX5 rearrangements. Methods analyzed 175 infants (aged 0–365 days) diagnosed from 2010 2023 at Dmitry Rogachev National Medical Research Center Pediatric Hematology, Oncology Immunology. Genomic aberrations were identified karyotyping, FISH RNA‐seq. RNA‐seq was performed using Illumina, gene fusions validated Sanger sequencing. Results There no difference survival based partner genes. KMT2A::AFF1 showed similar other partners, 2‐year EFS 36% (95% CI, 21%–59%) versus 37% 23%–60%) (log‐rank test, p = 0.9). In ( n 33, 17.7% cases), NUTM1‐r 9) PAX5‐r 10) accounted for 27% 30.3%, respectively. groups excellent rates, 80% 52%–100%) 100% 100%–100%), respectively, small cohort size limit statistical power analysis Conclusions Survival did not differ a favorable ‐rearranged patients had better than previously reported. group, most common fusion, BRD9:NUTM1 , variability breakpoints (Exons 3, 8, 14 BRD9 ).

Language: Английский

Citations

0