伴有5号染色体长臂缺失的急性淋巴细胞白血病一例并文献复习

One case of acute lymphoblastic leukemia with del（5q） and literatures review

目的探讨伴有5号染色体长臂缺失（5q-）的急性淋巴细胞白血病的临床及实验室特点。方法报道1例伴有5q一的急性淋巴细胞白血病，并对相关文献进行复习。结果患者因腹痛、骨痛就诊。血常规显示白细胞增高、血小板减少。经骨髓穿刺、过氧化物酶染色、流式细胞术免疫分型检测，诊断为急性淋巴细胞白血病（前T细胞型）。染色体及荧光免疫杂交检测均发现5q-。应用hyper—CVAD方案化疗曾短暂缓解，复发后应用MEA和hyper—CVAD方案，均无效。通过文献复习发现，5q-在急性淋巴细胞白血病中十分罕见，此类患者5q缺失序列的最小重叠范围位于DNA标记D5S410和D5S436之间，即5q31．33区域。结论急性淋巴细胞白血病中5q-相当罕见，对该类疾病特点仍需进一步研究。

Objective To introduce the laboratory and clinical characteristics of acute lymphoblastic leukemia accompanied by the karyotypic abnormality of 5q-. Methods Report the diagnosis and treatment of one case of acute lymphoblastie leukemia with 5 q- and review the relevant literatures. Results The patient came to the hospital because of bellyache and ostalgia.The blood routine showed a high WBC count and reduced platelets.Bone marrow aspirates examination indicated acute leukemia and by peroxidase staining and flow eytometry test,acute pro-T lymphoblastic leukemia was diagnosed. The karyotype and fluorescence in situ hybridization analysis showed 5q-. The hyper-CVAD regimen induced a temporary remission but it did not work anymore after the relapse nor did the MEA regimen. From the literatures ever reported, the kyryotypic abnormality of 5q- was rarely seen in acute lymphoblastic leukemia. In such cases, the minimal deletion region overlaped between marks of D5S410 and D5S436 corresponding to chromosomal location 5q31-33. Conclusion 5q- is rare in acute lymphoblastic leukemia and more features are still to be found about the kind of disorder.