关键词: Chromosomal abnormalities Complex karyotype Myelodysplastic syndrome

Mesh : Adult Aged Chromosome Aberrations Cytogenetic Analysis / methods Female Humans Immunophenotyping / methods Karyotype Karyotyping / methods Leukemia, Monocytic, Acute / genetics Leukemia, Myeloid, Acute / genetics Male Middle Aged Myelodysplastic Syndromes / diagnosis genetics Translocation, Genetic / genetics

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Abstract:
Chromosomal aberrations play an important role in the incidence of myelodysplastic syndromes (MDS) and development to acute myeloid leukemia (AML). We report a case of a 62-year-old male patient diagnosed with MDS with excess blasts. The karyotype was 45, XY,+1,+1,-7,-10,-22,t(1;14) (q21;q32),t(1;17)(q21;p13),t(1;19)(q21;p13). The patient and his family refused treatment for financial reasons. After 2 months, the patient\'s MDS transformed into acute myeloid monocytic leukemia (AML-M5). This case of MDS with poor prognosis shows that patients with chromosomal numerical abnormality and balanced translocations should be treated early to prevent transition to AML. Further study of this case will reveal the molecular mechanism of MDS-to-AML transformation and identify new leukemic fusion genes.
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