Clinical presentation and differential splicing of SRSF2, U2AF1 and SF3B1 mutations in patients with acute myeloid leukemia.

doi:10.1038/s41375-020-0839-4

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Clinical presentation and differential splicing of SRSF2, U2AF1 and SF3B1 mutations in patients with acute myeloid leukemia.

Leukemia - 1 Oct 2020

Bamopoulos Stefanos A, Batcha Aarif M N, Jurinovic Vindi, Rothenberg-Thurley Maja, Janke Hanna, Ksienzyk Bianka, Philippou-Massier Julia, Graf Alexander, Krebs Stefan, Blum Helmut, Schneider Stephanie, Konstandin Nikola, Sauerland Maria Cristina, Görlich Dennis, Berdel Wolfgang E, Woermann Bernhard J, Bohlander Stefan K, Canzar Stefan, Mansmann Ulrich, Hiddemann Wolfgang, Braess Jan, Spiekermann Karsten, Metzeler Klaus H, Herold Tobias

Abstract excerpt

Previous studies demonstrated that splicing factor mutations are recurrent events in hematopoietic malignancies with both clinical and functional implications. However, their aberrant splicing patterns in acute myeloid leukemia remain largely unexplored. In this study, we characterized mutations in SRSF2, U2AF1, and SF3B1, the most commonly mutated splicing factors. In our clinical analysis of 2678 patients,...

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PMID: 32358566
DOI: 10.1038/s41375-020-0839-4

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