Splicing factor mutations clearance and outcomes in clonal myeloid neoplasms: a referral center experience

Manasawee Tanariyakul; Sarah Mott; Bethany Daniels; Avani Yaganti; Chalothorn Wannaphut; Sarah Hornberg; Prajwal Dhakal; Grerk Sutamtewagul; Kittika Poonsombudlert

doi:10.1007/s00277-026-07111-z

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Splicing factor mutations clearance and outcomes in clonal myeloid neoplasms: a referral center experience

Journal article

Open access

Peer reviewed

Splicing factor mutations clearance and outcomes in clonal myeloid neoplasms: a referral center experience

Manasawee Tanariyakul, Sarah Mott, Bethany Daniels, Avani Yaganti, Chalothorn Wannaphut, Sarah Hornberg, Prajwal Dhakal, Grerk Sutamtewagul and Kittika Poonsombudlert

Annals of hematology

06/06/2026

DOI: 10.1007/s00277-026-07111-z

PMID: 42249961

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Abstract

Splicing factor (SF) mutations (SF3B1, SRSF2, U2AF1, and ZRSR2) are implicated in the pathogenesis of myelodysplastic syndrome (MDS), chronic myelomonocytic leukemia (CMML), and acute myeloid leukemia (AML). However, additional cytogenetic aberrations or driver mutations are typically required for the development of AML, raising questions about the utility of SF mutation persistence as a marker of measurable residual disease (MRD). We conducted a retrospective review of adult patients treated at UIHC from 2016 to 2025. Logistic and Cox regression models assessed the impact of clinical and molecular factors on composite complete remission (CR), allogeneic stem cell transplantation (HSCT), AML transformation, and overall survival (OS). Among 95 patients (AML, N = 57; MDS/CMML, N = 38) who received treatment of cytoreductive potential, SF mutations became undetectable in 22 AML and 8 MDS/CMML patients. In AML, post-treatment SF mutation status was associated with receipt of HSCT, but not with CR or OS. In MDS/CMML, SF mutation clearance was associated with CR, but not the receipt of HSCT or OS. Median OS was 27.2 vs. 17.2 months in AML and 16.7 vs. 23.7 months in MDS/CMML for clearance versus persistence groups, respectively. These findings suggest that SF mutation clearance does not significantly impact OS but may influence other clinical outcomes in patients with myeloid neoplasms harboring SF mutations.

AML

Splicing factor mutation

Clearance

MDS

Measurable residual disease (MRD)

Details

Title: Subtitle: Splicing factor mutations clearance and outcomes in clonal myeloid neoplasms: a referral center experience
Creators: Manasawee Tanariyakul - University of Iowa
Sarah Mott - University of Iowa
Bethany Daniels - University of Iowa
Avani Yaganti - University of Iowa
Chalothorn Wannaphut - University of Hawaii System
Sarah Hornberg - University of Iowa
Prajwal Dhakal - University of Iowa
Grerk Sutamtewagul - University of Iowa
Kittika Poonsombudlert - University of Iowa Health Care
Resource Type: Journal article
Publication Details: Annals of hematology
DOI: 10.1007/s00277-026-07111-z
PMID: 42249961
NLM abbreviation: Ann Hematol
ISSN: 1432-0584
eISSN: 1432-0584
Publisher: Springer Nature
Language: English
Electronic publication date: 06/06/2026
Academic Unit: Hematology, Oncology, and Blood & Marrow Transplantation; Internal Medicine
Record Identifier: 9985174500302771

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