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伴t(2;3)(p12;q27)、t(14;18)(q32;q21)和t(8;22)(q24;q11)的急性淋巴细胞白血病(L3型)

[Acute lymphoblastic leukemia (L3) with t(2;3)(p12;q27), t(14;18)(q32;q21), and t(8;22)(q24;q11)].

作者信息

Fujii Souichirou, Miyata Akira, Takeuchi Makoto, Yoshino Tadashi

机构信息

Department of Internal Medicine, Chugoku Central Hospital of the Mutual Aid Association of Public School Teachers.

出版信息

Rinsho Ketsueki. 2005 Feb;46(2):134-40.

Abstract

A 50-year-old woman developed a subcutaneous tumor in the left lower leg. A biopsy led to the diagnosis of lymphoid malignancy. The malignant cells showed a B-cell immunophenotype. Karyotyping of the cells revealed t(14;18) and t(2;3). The patient was treated with chemotherapy, resulting in a transient response. Subsequently, tumor regrowth and bone marrow recurrence developed. Karyotyping of the bone marrow at relapse revealed a t(8;22) in addition to t(14;18) and t(2;3), which led to a diagnosis of acute lymphoblastic leukemia (ALL)-L3 (FAB). Although the patient was treated with several chemotherapy regimens, the disease was refractory to all the treatments. Fluorescence in situ hybridization (FISH) and the nested polymerase chain reaction (PCR) technique demonstrated rearrangements of the c-myc, bcl-2, and bcl-6 genes. ALL-L3 associated with t(14;18) is known to be complicated frequently with cerebrospinal infiltration and extramedullary lesions, and has a poor prognosis. In our case, the presence of the additional t(2;3) may have enhanced this patient's refractoriness to the treatment.

摘要

一名50岁女性左小腿出现皮下肿瘤。活检确诊为淋巴系统恶性肿瘤。恶性细胞显示B细胞免疫表型。细胞染色体核型分析显示存在t(14;18)和t(2;3)。患者接受化疗,出现短暂缓解。随后肿瘤复发并出现骨髓复发。复发时骨髓染色体核型分析显示除t(14;18)和t(2;3)外,还存在t(8;22),从而诊断为急性淋巴细胞白血病(ALL)-L3(FAB分型)。尽管患者接受了多种化疗方案治疗,但疾病对所有治疗均耐药。荧光原位杂交(FISH)和巢式聚合酶链反应(PCR)技术显示c-myc、bcl-2和bcl-6基因重排。已知与t(14;18)相关的ALL-L3常并发脑脊膜浸润和髓外病变,预后较差。在我们的病例中,额外的t(2;3)可能增强了该患者对治疗的耐药性。

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