Analysis of genetic and clinical characteristics of nine cases of myelodysplastic syndrome with near tetraploid/tetraploidy karyotype / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic and clinical characteristics of near-tetraploidy/tetraploidy karyotype (NT/T) in patients with myelodysplastic syndrome (MDS).@*METHODS@#Cytogenetic findings of 1576 inpatients with primary MDS were retrospective analyzed, among which 9 were diagnosed with NT/T. Clinical data including gender, age, morphology, genetic feature and prognosis were analyzed.@*RESULTS@#The prevalence of MDS patients with NT/T (NT/T-MDS) among all cases was 0.57%. Karyotyping analysis suggested that eight MDS patients had sole NT/T, while the remainder one had a complex karyotype. In addition to the typical morphology of MDS, NT/T-MDS had unique morphology including huge blast, double-nuclear cell and irregular nuclear membrane. One NT/T-MDS patient gave up therapy, and the remaining eight underwent the first course of treatment, albeit with poor prognosis. Only one patient had complete remission, one had partial remission, three had no remission; and three had converted to acute myeloid leukemia.@*CONCLUSION@#NT/T-MDS is rare and has unique morphology. Generally, NT/T-MDS patients have poor prognosis. However, NT/T cannot be simply classified as high-risk group, but with consideration whether they have affected particular chromosomal structures as well as other clinical data.

Efficacy and safety of reduced-intensity chemotherapy in children with Down syndrome-related myeloid leukemia / 白血病·淋巴瘤

Objective:To investigate the efficacy and safety of reduced-intensity chemotherapy in treatment of children with Down syndrome-related myeloid leukemia (ML-DS).Methods:The clinical data of 3 hospitalized children with ML-DS who were diagnosed and treated by Children Oncology Group Trial A2971 chemotherapy regimen in Fujian Medical University Union Hospital from January 2016 to June 2019 were retrospectively analyzed, and the clinical characteristics, efficacy and safety were summarized.Results:The ages of 3 children were 1 year and 6 months, 2 years and 6 months, and 1 year and 10 months. Two cases were acute monocytic leukemia, and 1 case was acute megakaryoblastic leukemia. Two cases were positive for EVI1 gene and 1 case had ASXL1 gene mutation, and all 3 cases had complex karyotype. After one course of induction chemotherapy, all 3 cases achieved complete remission, and the minimal residual disease turned negative. During the induction chemotherapy, all 3 cases had severe myelosuppression, and 2 cases of them suffered from severe pneumonia and 1 case of them suffered from intestinal infection and septic shock.Conclusion:The efficacy of reduced-intensity chemotherapy in children with ML-DS is favorable, but the severe complications such as myelosuppression and infection need to be taken seriously.