What question did this study set out to answer?

To characterize the unique alternative splicing landscape induced by SRSF2 mutations in chronic myelomonocytic leukemia.

April 5, 2026Cancer Research

Long-Read RNA-Seq Profiles Isoform Landscape in SRSF2-Mutant Chronic Myelomonocytic Leukemia

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To characterize the unique alternative splicing landscape induced by SRSF2 mutations in chronic myelomonocytic leukemia.
Conducted bulk long-read RNA-Seq on bone marrow mononuclear cells from 5 CMML patients
Utilized Pacbio Kinnex full-length RNA kit and Revio SPRQ sequencer for sequencing
Processed reads with IsoSeq pipeline and performed differential expression analyses using DESeq2
Identified 255,505 unique transcript isoforms, with 14,845 being novel to the reference transcriptome
Discovered 23 differentially expressed transcripts in SRSF2-mutant samples, including 9 novel transcripts
Noted significant changes in transcript usage related to the YBX1 gene, specifically a novel isoform, YBX1ΔEx4, lacking exon 4

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Implication

Long-read RNA-Seq identifies novel transcript isoforms in SRSF2-mutant chronic myelomonocytic leukemia, suggesting implications for disease progression.

Cite This Study

Steinauer et al. (2026) studied this question.

synapsesocial.com/papers/69d1fd8ea79560c99a0a3a6f https://doi.org/10.1158/1538-7445.am2026-1497

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Implication

Long-read RNA-Seq identifies novel transcript isoforms in SRSF2-mutant chronic myelomonocytic leukemia, suggesting implications for disease progression.

Long-Read RNA-Seq Profiles Isoform Landscape in SRSF2-Mutant Chronic Myelomonocytic Leukemia

Key Points

Discussion

Implication

Cite This Study

Long-Read RNA-Seq Profiles Isoform Landscape in SRSF2-Mutant Chronic Myelomonocytic Leukemia

Key Points

Discussion

Implication

Cite This Study

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