伴idic(20q-)恶性血液病10例报告并文献复习

目的 探讨伴idic(20q-)恶性血液病的临床和分子细胞遗传学特征.方法 分析10例伴idic(20q-)恶性血液病患者的临床资料,应用RHG显带技术进行核型分析,以GEP20探针进行单色荧光原位杂交(FISH)检测,以20q亚端粒探针和20q12位点特异探针进行双色FISH检测,并结合文献加以分析.结果 10例患者中急性红白血病2例,原发性骨髓纤维化1例,骨髓增生异常综合征(MDS)3例,高度疑似MDS 4例.染色体核型分析揭示10例均丢失1个正常20号染色体,代之以1或2个比20号染色体还小的中着丝粒等臂染色体,FISH检查证实它是伴有20q12中间缺失的20q等臂双着丝粒染色体der(20)de1(20)(q11q13)idic(20)(p11),即idic(20q-),其中2例患者部分细胞核型只有20q-异常.结论 Idic(20q-)来源于20q-异常克隆,它与MDS及急性红白血病密切相关,idic(20q-)异常有助于MDS的诊断.

Abstract：

Objective To analyze the clinical and molecular cytogenetic features of hematologic malignancies with idic(20q - ). Methods The clinical data of 10 patients with idic(20q - ) were analyzed.Karyotyping analysis was carried out with R banding technique. A CEP20 probe was used to perform singlecolor fluorescence in situ hybridization (FISH). A subtelomeric probe for 20q and a locus-specific probe for 20q12 were used to perform dual-color FISH. The literatures of hematologic malignancies with idic( 20q - )were reviewed. Results Of the 10 cases, 2 were diagnosed as acute erythroid leukemia, 1 primary myelofibrosis, 3 myelodysplastic syndromes (MDS) and 4 highly suspected (HS-MDS). Karyotype analysis showed that one of the normal chromosome 20 allele was substituted by one or two metacentric isochromosomes smaller than the normal one in all 10 cases. It was confirmed to be der(20) del(20) (q11q13) idic(20) (p11),i.e. , idic( 20q - ) by FISH assay. Partial cells in 2 of the 10 cases had 20q - as the sole karyotypic anomaly. Conclusion Idic(20q - ) results from a pre-existing del(20q) and is strongly associated with MDS and acute erythroid leukemia. Idic(20q- ) as a recurrent cytogenetic abnormality is helpful for diagnosing HSMDS in patients with cytopenia but only slight or absent dysplasia.

Report of ten cases of hematologic malignancies with idic(20q-) and literature review

Objective To analyze the clinical and molecular cytogenetic features of hematologic malignancies with idic(20q - ). Methods The clinical data of 10 patients with idic(20q - ) were analyzed.Karyotyping analysis was carried out with R banding technique. A CEP20 probe was used to perform singlecolor fluorescence in situ hybridization (FISH). A subtelomeric probe for 20q and a locus-specific probe for 20q12 were used to perform dual-color FISH. The literatures of hematologic malignancies with idic( 20q - )were reviewed. Results Of the 10 cases, 2 were diagnosed as acute erythroid leukemia, 1 primary myelofibrosis, 3 myelodysplastic syndromes (MDS) and 4 highly suspected (HS-MDS). Karyotype analysis showed that one of the normal chromosome 20 allele was substituted by one or two metacentric isochromosomes smaller than the normal one in all 10 cases. It was confirmed to be der(20) del(20) (q11q13) idic(20) (p11),i.e. , idic( 20q - ) by FISH assay. Partial cells in 2 of the 10 cases had 20q - as the sole karyotypic anomaly. Conclusion Idic(20q - ) results from a pre-existing del(20q) and is strongly associated with MDS and acute erythroid leukemia. Idic(20q- ) as a recurrent cytogenetic abnormality is helpful for diagnosing HSMDS in patients with cytopenia but only slight or absent dysplasia.