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本研究探讨骨髓增生异常综合症-原始细胞增多型(MDS-RAEB)患者的染色体核型演变与疾病进展的关系。通过对1例MDS-RAEB-II患者长达6年的随访,动态检测染色体核型、骨髓以及血常规,并采用荧光原位杂交技术(FISH)对患者的异常核型进行验证。结果表明,随访72个月中发现急性髓系白血病型化疗对患者无效,而全反式维甲酸、6-巯基嘌呤的诱导及支持治疗对患者有效。在初诊时为正常男性核型,病程第48月出现核型演变46,XY,2q+[1]/46,XY[19],第56月演变为46,XY,dup(1q)[3]/46,XY[7],第68月出现以dup(1)和der(11)为主的复杂染色体异常,并有血小板进行性下降。结论:染色体核型的演变与骨髓增生异常综合症疾病的进展可能有相关性。
This study was aimed to investigate the relationship between the evolution of the karyotype and the progression of myelodysplastic syndromes (MDS-RAEB). Chromosomal karyotype, bone marrow and blood routine were dynamically detected in one patient with MDS-RAEB-II for up to 6 years. Fluorescence in situ hybridization (FISH) was used to verify the abnormal karyotype. The results showed that 72 months follow-up found in patients with acute myeloid leukemia chemotherapy, and all-trans retinoic acid, 6-mercaptopurine induction and supportive treatment of patients effective. At the time of first visit, the karyotypes were normal in karyotype. The karyotype evolution appeared in 48th month of disease. XY, 2q + [1] / 46, XY [19] 46, XY [7], complex chromosome abnormalities mainly dup (1) and der (11) appeared in the 68th month, and the platelets decreased progressively. CONCLUSIONS: The evolution of the karyotype may be related to the progression of myelodysplastic syndromes.