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[Chromosome abnormalities in myelodysplastic syndrome]
1Department of Blood Center, Fujigaoka Hospital, Showa University, Yokohama.
Abstract:
We performed chromosomal analysis in 18 patients with myelodysplastic syndrome (MDS). According to the French-American-British (FAB) cooperative study group and Research Group of Japanese Ministry of Welfare Classification, our cases with MDS were classified into four subtypes as follows; refractory anemia [RA], 6 cases; refractory anemia with excess of blasts [RAEB], 4; chronic myelomonocytic leukemia [CMML], 3; refractory anemia with excess of blasts in transformation [RAEB-T], 4; and refractory cytopenia [RC], 1. Thirteen patients (72%) had chromosomal abnormalities and frequently observed chromosomal abnormalities were trisomy 8, -7/7q-, 20q-, trisomy 1q and 5q-. The mean survival were as follows; RA: 22.5 months, RAEB: 13.2 months, CMML: 15 months, RAEB-T: 5.5 months. Progression to overt leukemia occurred in 5 patients (27.7%): 1 of four patients with RAEB, 1 of three patients with CMML and 3 of four patients with RAEB-T. In conclusion, chromosomal abnormalities were most frequently observed in the patient with RAEB-T who had shortest survival time among the patients with MDS. On the other hand, chromosomal abnormalities were less frequently observed in the patients with RA and they showed relatively better prognosis than the other types of MDS.
Insights
Chromosomal abnormalities are common in myelodysplastic syndromes (MDS), particularly in RAEB-T, correlating with shorter survival. Refractory anemia (RA) patients show fewer abnormalities and better prognoses.
Area of Science:
- Hematology
- Cytogenetics
- Oncology
Context:
- Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematopoietic stem cell disorders.
- Chromosomal abnormalities are frequent in MDS and are important prognostic factors.
Purpose:
- To investigate the correlation between chromosomal abnormalities and clinical subtypes of myelodysplastic syndromes (MDS).
- To analyze the prognostic significance of cytogenetic findings in different MDS subtypes.
Summary:
- Chromosomal analysis was performed on 18 MDS patients classified into RA, RAEB, CMML, RAEB-T, and RC subtypes.
- Thirteen patients (72%) exhibited chromosomal abnormalities, with trisomy 8, -7/7q-, 20q-, trisomy 1q, and 5q- being most frequent.
- Refractory anemia with excess of blasts in transformation (RAEB-T) showed the highest frequency of abnormalities and the shortest survival (5.5 months), while refractory anemia (RA) had fewer abnormalities and better prognosis (22.5 months).
- Progression to acute leukemia occurred in 27.7% of patients, predominantly in the RAEB-T subtype.
Impact:
- Identifies specific chromosomal abnormalities associated with poor prognosis in MDS subtypes.
- Highlights the prognostic value of cytogenetic analysis for stratifying MDS patients.
- Informs clinical management and therapeutic strategies for MDS based on cytogenetic profiles.