Excellent Prognosis of Low-Risk Myelodysplastic Syndromes (MDS) Without Detectable Myeloid-Related Mutations
| Autor: | Pimjai Niparuck, Ponlapat Rojnuckarin, Thanawat Rattanathammethee, Sunisa Kongkiatkamon, Theerin Lanamtieng, Sasinipa Trithiphen, Kritanan Songserm, Chantiya Chanswangphuwana, Udomsak Bunworasate, Amornchai Suksusut, Sirorat Kobbuaklee, Panisinee Lawasut, Suporn Chuncharunee, Chantana Polprasert |
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| Rok vydání: | 2021 |
| Předmět: |
Cancer Research
medicine.medical_specialty Myeloid Gene mutation Gastroenterology hemic and lymphatic diseases Internal medicine Medicine Humans Progression-free survival Cytopenia business.industry Myelodysplastic syndromes Hazard ratio High-Throughput Nucleotide Sequencing Hematology medicine.disease Prognosis Leukemia Myeloid Acute medicine.anatomical_structure Oncology Dysplasia International Prognostic Scoring System Myelodysplastic Syndromes Mutation business |
| Zdroj: | Clinical lymphoma, myelomaleukemia. 22(5) |
| ISSN: | 2152-2669 |
| Popis: | BACKGROUND : Unexplained cytopenia (UC) and low-risk myelodysplastic syndrome (MDS) are distinguished mainly by morphologic dysplasia, which sometimes shows inter-observer discrepancy. We hypothesized that gene mutations are strong prognostic factors for these low-risk patients. METHODS : We enrolled patients from four medical centers with unexplained cytopenia of at least one lineage. Diagnosis of low-risk MDS was made according to WHO 2016 classification and a revised international prognostic scoring system (R-IPSS) score of ≤ 3.5. DNA was extracted from bone marrow or blood and sequenced by targeted next generation sequencing (NGS). RESULTS : One hundred twenty-one patients were recruited: 25% with UC and 75% with low-risk MDS. Complete blood counts were similar, but low-risk MDS patients carried higher numbers of mutations (1 vs. 0; p=0.04) than UC patients. Overall, the most frequent mutated genes were TET2 (14.6%), SF3B1 (12.2%) and ASXL1 (9.7%). Survival rates of low-risk MDS patients vs. UC patients were not significantly different. UC patients and low-risk MDS patients without genetic abnormalities showed superior 5-year progression free survival compared to MDS patients with mutations (100% vs. 76.0%; p=0.005). Overall, ASXL1 mutations were associated with decreased 4-year overall survival compared to wild-type (59% vs. 31%; p=0.01). In a multivariate analysis, ASXL1 and DNMT3A mutations in low-risk MDS patients were associated with a higher risk of disease progression with hazard ratios of 7.88 (95% CI 1.76-35.32, p=0.01) and 7.45 (95% CI 1.61-34.46, p=0.01), respectively. CONCLUSION : Mutation detection is important for proper risk stratification of patients presenting with idiopathic cytopenia. Micro-abstract : Diagnosis of myelodysplastic syndromes is mainly based on cytopenia(s) and morphologic criteria which sometimes show equivocal results. We demonstrate utilities of gene mutations in patients with idiopathic cytopenia in terms of diagnosis and prognostication aspects. |
| Databáze: | OpenAIRE |
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