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一名患有伴有三系骨髓发育异常的急性髓性白血病患者的[t(3;5)(q21;q31)染色体异常]

[t(3;5) (q21;q31) chromosomal abnormality in a patient with acute myelogenous leukemia with trilineage myelodysplasia].

作者信息

Sasai Y, Nakagawa H, Fujii H, Kaneko H, Horiike S

机构信息

Third Department of Internal Medicine, Kyoto First Red Cross Hospital.

出版信息

Rinsho Ketsueki. 1998 Sep;39(9):658-64.

PMID:9796399
Abstract

A 60-year-old woman was admitted in June 1993, because of anemia and purpura and given a diagnosis of acute myelogenous leukemia with trilineage dysplasia. She entered partial remission (PR) after three courses of low-dose Ara-C and G-CSF, but never reached complete remission (CR) in spite of additional chemotherapy. In October 1994, the number of leukocytes, myeloblasts, and erythroblasts in the patient's peripheral blood increased, and her clinical condition deteriorated. The disease was resistant to other therapy. The patient had pneumonia and died of septic shock in December 1994. A chromosomal analysis performed on admission showed 46,XX,t(3;5) (q21;q31) [9/9]. As an additional chromosomal abnormality, deletion of the X chromosome was observed in January, 1994. Analysis of the p53 gene by the polymerase chain reaction-single strand conformation polymorphism method showed one base transposition, from TAT to TGT (Tyr to Cys), at codon 220 of exon 6. Karyotype evolution and p53 gene mutation were observed during the disease course and may have been related to progression of the disease.

摘要

一名60岁女性于1993年6月因贫血和紫癜入院,被诊断为急性髓性白血病伴三系发育异常。经过三个疗程的小剂量阿糖胞苷和粒细胞集落刺激因子治疗后进入部分缓解(PR),但尽管进行了额外的化疗,仍未达到完全缓解(CR)。1994年10月,患者外周血中的白细胞、成髓细胞和成红细胞数量增加,临床状况恶化。该疾病对其他治疗耐药。患者患肺炎并于1994年12月死于感染性休克。入院时进行的染色体分析显示为46,XX,t(3;5) (q21;q31) [9/9]。作为额外的染色体异常,1994年1月观察到X染色体缺失。通过聚合酶链反应-单链构象多态性方法对p53基因进行分析,发现在外显子6的第220密码子处有一个碱基转换,从TAT转换为TGT(酪氨酸转换为半胱氨酸)。在疾病过程中观察到核型演变和p53基因突变,这可能与疾病进展有关。

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