Optical genome mapping for cytogenetic diagnostics in AML

V Nilius-Eliliwi, WM Gerding, R Schroers, HP Nguyen… - Cancers, 2023 - mdpi.com
Simple Summary Today, the classification of acute myeloid leukemia is mainly based on
genetic aberrations found in leukemic cells. Classifying this disease is necessary for exact …

The role of next-generation sequencing in acute myeloid leukemia

M Llop, C Sargas, E Barragán - Current Opinion in Oncology, 2022 - journals.lww.com
NGS has proven to be a useful approach for the analysis of genomic alterations in patients
with AML, which aids patient management. Current research is being directed at reducing …

Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia

M Umeda, J Ma, BJ Huang, K Hagiwara, T Westover… - Blood cancer …, 2022 - AACR
The genetics of relapsed pediatric acute myeloid leukemia (AML) has yet to be
comprehensively defined. Here, we present the spectrum of genomic alterations in 136 …

Antiviral treatment causes a unique mutational signature in cancers of transplantation recipients

JK de Kanter, F Peci, E Bertrums, AR Huber… - Cell stem cell, 2021 - cell.com
Genetic instability is a major concern for successful application of stem cells in regenerative
medicine. However, the mutational consequences of the most applied stem cell therapy in …

Acute myeloid leukemias with UBTF tandem duplications are sensitive to menin inhibitors

JM Barajas, M Rasouli, M Umeda, R Hiltenbrand… - Blood, 2024 - ashpublications.org
UBTF tandem duplications (UBTF-TDs) have recently emerged as a recurrent alteration in
pediatric and adult acute myeloid leukemia (AML). UBTF-TD leukemias are characterized by …

UBTF tandem duplications define a distinct subtype of adult de novo acute myeloid leukemia

N Duployez, L Vasseur, R Kim, L Largeaud, M Passet… - Leukemia, 2023 - nature.com
Tandem duplications (TDs) of the UBTF gene have been recently described as a recurrent
alteration in pediatric acute myeloid leukemia (AML). Here, by screening 1946 newly …

UBTF::ATXN7L3 gene fusion defines novel B cell precursor ALL subtype with CDX2 expression and need for intensified treatment

L Bastian, AM Hartmann, T Beder, S Hänzelmann… - Leukemia, 2022 - nature.com
Genomic aberrations—gene fusions in the majority of cases—and corresponding
transcriptional regulations define an increasingly complex landscape of molecular subtypes …

Concurrent CDX2 cis-deregulation and UBTF::ATXN7L3 fusion define a novel high-risk subtype of B-cell ALL

M Passet, R Kim, S Gachet, F Sigaux… - Blood, The Journal …, 2022 - ashpublications.org
Oncogenic alterations underlying B-cell acute lymphoblastic leukemia (B-ALL) in adults
remain incompletely elucidated. To uncover novel oncogenic drivers, we performed RNA …

Convergent epigenetic evolution drives relapse in acute myeloid leukemia

K Nuno, A Azizi, T Koehnke, C Lareau, A Ediriwickrema… - Elife, 2024 - elifesciences.org
Relapse of acute myeloid leukemia (AML) is highly aggressive and often treatment
refractory. We analyzed previously published AML relapse cohorts and found that 40% of …

IDH1-Mutant Preleukemic Hematopoietic Stem Cells Can Be Eliminated by Inhibition of Oxidative Phosphorylation

N Landberg, T Köhnke, Y Feng, Y Nakauchi, AC Fan… - Blood cancer …, 2024 - AACR
Rare preleukemic hematopoietic stem cells (pHSC) harboring only the initiating mutations
can be detected at the time of acute myeloid leukemia (AML) diagnosis. pHSCs are the …