The presence of splicing factor 3b subunit 1 and tumor protein 53 Co-Mutation in myelodysplastic syndrome patients and its impact on disease presentation, the initial response to treatment and international prognostic scoring system classification

Background Contrary to expectations, patients diagnosed with myelodysplastic syndrome and harboring mutations in tumor protein 53 (TP53) are reported to have an unfavorable prognosis when it comes to splicing factor 3b subunit 1 (SF3B1) mutations. The clinical implications of an SF3B1 and TP53 mutation combined remain even more ambiguous. The present study aimed to compare the clinical outcomes of concurrent double SF3B1/TP53 mutation with those of isolated SF3B1 or TP53 mutations. Our study aims to assess the clinical implications of concurrent double mutations of SF3B1 and TP53 compared with isolated mutations in SF3B1 or TP53 in individuals with myelodysplastic syndrome in Egypt. Patients and methods A total of 84 individuals were analyzed using next-generation sequencing to evaluate their demographics, diagnosis, cytogenetic abnormalities, and response to treatment. Among these patients, 28 had isolated SF3B1 mutation, 21 had TP53 mutation, 7 had both SF3B1 and TP53 mutations, and 28 had additional mutations. Results When comparing the presence of SF3B1, TP53 ‘whether alone or as co-mutation’ to International Prognostic Scoring System classification, final International Consensus classification, and cytogenetic abnormalities, no relation/correlation was found among any of the studied groups. Conclusion Our research showed that patients with double SF3B1/TP53 mutations had a similar presentation and risk stratification as those with isolated SF3B1 mutations, or isolated TP53 mutations.