急性白血病和骨髓增生异常综合症染色体-7/7q-异常的细胞遗传学和临床分析

Cytogenetic and Clinical analysis of -7/7q- Abnormalities in Acute Leukemia and Myelodysplastic Syndrome

本研究探讨染色体 - 7/ 7q -异常在恶性血液学疾病的发生、发展和预后中的作用。用细胞染色体显带技术分析 4 10例初发急性白血病 (acuteleukemia ,AL)、71例骨髓增生异常综合症 (myelodysplasticsyndrome ,MDS)和36例慢性粒细胞白血病 (chronicmyelogenousleukemia acceleratedphase ,CML AP)的细胞核型。结果表明 :染色体- 7/ 7q -异常在AL ,MDS和CML AP患者中的检出率分别为 4 .88% ,9.86 %和 8.33% ,在急性髓细胞白血病(AML)和急性淋巴细胞白血病 (ALL)中均可检出染色体 - 7/ 7q -异常 ,检出率分别为 4 .70 %和 6 .2 5 % ,两者无明显差别 (P >0 .0 5 )。 9例具有单独染色体 - 7或 7q -异常 ,2 2例伴有其他染色体异常 ,如 -X、- 5、+8、t(3;3)、t(11;16 )、t(2 ;11)等。发现 1例MDS RAEB患者具有 - 7异常克隆 ,同时还有 7q -异常克隆出现 ,而且 - 7异常的细胞数高于 7q -异常的细胞数。接受化疗的 7例ALL中 4例获得完全缓解 ;13例AML患者中仅 2例获得完全缓解 ;7例MDS患者中 6例转化急性白血病 ;3例CML AP中无 1例缓解。结论 :染色体 - 7/ 7q -异常是恶性血液肿瘤常见的染色体异常 ,在髓系和淋巴细胞中均可出现 ,- 7异常和 7q异常可在同一患者共存 ;具有染色体 - 7/ 7q -异常的患者预后差。

The objective was to study the incidence and prognosis significance of -7/7q- abnormalities in acute leukemia and myelodysplastic syndrome. Conventional cytogenetic analysis of R-band was used to test -7/7q- chromosome abnormalities in 410 patients with acute leukemia (AL),in 71 cases of myelodysplastic syndrome (MDS) and in 36 cases of chronic myelogenous leukemia in accelerated phase (CML-AP). The results showed that the incidences of -7/7q-abnormalities in AL,MDS and CML-AP patients were 4.88%,9.86% and 8.33% respectively. The -7/7q- abnormalities could be found in acute myeloblastic leukemia (AML) and acute lymphocytic leukemia (ALL),incidences of which were 4.70% and 6.25% (P>0.05) respectively. 9 cases had -7 or 7q- as the sole chromosome abnormalities,22 cases showed other additional chromosome abnormalities: -X,-5,+8,t(3;3),t(11;16) and t(2;11). Monosomy -7 and 7q-abnormality clone was found in one patient with MDS-RAEB,and the number of cells with -7 abnomality was greater than that of 7q-abnomality cells. Four patients acquired CR among 7 patients with ALL after chemotherapy,but 2 out of 13 patients with AML achieved CR while 6 out of 7 patients with MDS transformed into AL. No patients with CML-AP achieved CR. In conclusion,-7/7q- is a frequent aberration in hematologic malignancies as well as AML and ALL. The monosomy -7 and 7q-abnormalities were detected in the same patient. The patients with -7/ 7q- abnormalities show poor prognosis.