Myelodysplastic Syndromes with Concomitant SF3B1 Mutation and Deletion of the Long Arm of Chromosome 5 ( SF3B1 del5q): Outcomes and Response to Treatment

作者：Rami S. Komrokji, Zaker Schwabkey, Najla H. Al Ali, Luis E. Aguirre, Maximilian Stahl, Somedeb Ball, Emily F. Mason, Michael R. Savona, Valeria Santini, Angela Consagra, Uwe Platzbecker, Anne Sophie Kubasch, Yazan F. Madanat, Pierre Fenaux, Lin‐Pierre Zhao, Mikkael A. Sekeres, Namrata S. Chandhok, Matteo Giovanni Della Porta, Luca Lanino, Amy E. DeZern, David A. Sallman, Zhuoer Xie, Eric Padron, Koji Sasaki, Kensuke Takaoka, Akhil Jain, Mónica Del Rey, María Diez‐Campelo, Guillermo Garcia‐Manero · 发表于：Blood · 年份：2024 · DOI：10.1182/blood-2024-207474 · 被引用次数：2 · 研究领域：Acute Myeloid Leukemia Research、Sarcoma Diagnosis and Treatment、RNA modifications and cancer

Background Both MDS-SF3B1 and isolated del(5q) MDS are recognized by WHO and ICC 2022 as unique molecularly-defined MDS entities. Reports including the molecular revised international prognostic scoring system (IPSS-M) indicate that concomitant SF3B1 mutation (MT) with del(5q) is associated with less favorable outcome. SF3B1del5q accounted for 7% of all SF3B1 cases in the IPSS-M cohort. Lenalidomide (Len) is the treatment of choice for isolated del(5q) MDS and luspatercept (Luspa) for MDS-SF3B1. However, there are scarce data about response of SF3B1del5q to either Len or Luspa. Hence, we assessed the hematological response rate to therapies including Len and Luspa among lower-risk (LR) MDS patients (pts) with SF3B1del5q . We also compared outcomes for MDS- SF3B1del5q pts to MDS-SF3B1 and del5qMDS. Methods This was a multicenter international retrospective analysis for pts diagnosed with concomitant del5q and SF3B1, less than 5% myeloblasts, no complex karyotype who received at least one line of therapy. Hematological improvement (HI) was defined as hemoglobin (Hgb) increase 1.5 g/dl or more in non-transfusion dependent pts, or red blood cell transfusion independence among transfusion dependent pts. We identified 2 comparison cohorts, MDS-SF3B1 cohort and isolated del5q-MDS cohort to compare baseline characteristics and outcomes. Results Among 77 LR-MDS pts with SF3B1del5q, the median age at diagnosis was 70 years (30-87), 74% were female, 97% white and 13% classified as t-MDS...