Eskisehir Osmangazi University, Medical Faculty, Department of Medical Genetics, Eskisehir, Turkey.
Eskisehir Osmangazi University, Medical Faculty, Department of Hematology, Eskisehir, Turkey.
Turk J Haematol. 2012 Jun;29(2):135-42. doi: 10.5152/tjh.2011.42. Epub 2012 Jun 15.
Multiple myeloma (MM) is characterized by the accumulation and proliferation of malignant plasma cells, secreting monoclonal immunoglobulins and genetic abnormalities in MM have implications for disease progression and survival. In the present study, we investigated the frequency of chromosomal abnormalities (CA) in Turkish patients with MM, using interphase FISH and CC and evaluated the relationship between the rearrangements detected, prognosis and stage of disease.
We performed conventional cytogenetic and FISH studies in 50 patients to detect chromosome anomalies associated with MM. FISH probes were used to detect 13q14, 13q34, 17p13 deletions, IGH rearrangements, and monosomy and/or trisomy of chromosomes 5, 9, and 15.
CC studies could be performed in 32 of 50 cases and five patients (15.6%) showed chromosomal aberrations while 27 (84.3%) had normal karyotypes. By FISH, eighteen percent (9/50) of cases were found to be normal for all parameters evaluated. Eighty-two percent (41/50) of the patients were positive for at least one abnormality. Chromosome 13 anomalies were detected in 54% (27/50) of cases. The second most common aberration observed is chromosome 15 aberrations (50%).
Median survival rate was shorter in patients with one of the abnormalities including chromosome 13 aberrations, IGH rearrangements or P53 deletions. Chromosome 15 aberrations were significantly higher in patients with stage III disease (p=0.02). We conclude that FISH studies should be performed in conjunction with conventional cytogenetic analysis for prognosis in multiple myeloma patients.
多发性骨髓瘤（MM）的特征是恶性浆细胞的积累和增殖，分泌单克隆免疫球蛋白，MM 中的遗传异常与疾病进展和生存有关。本研究通过间期 FISH 和 CC 检测了土耳其 MM 患者的染色体异常（CA）频率，并评估了所检测到的重排与预后和疾病分期之间的关系。
我们对 50 例患者进行了常规细胞遗传学和 FISH 研究，以检测与 MM 相关的染色体异常。使用 FISH 探针检测 13q14、13q34、17p13 缺失、IGH 重排以及染色体 5、9 和 15 的单体和/或三体。
32 例可进行 CC 研究，5 例（15.6%）存在染色体异常，27 例（84.3%）核型正常。通过 FISH，18%（9/50）的病例所有评估参数均正常。82%（41/50）的患者至少有一种异常。50%（27/50）的病例检测到 13 号染色体异常。观察到的第二种最常见的异常是染色体 15 异常（50%）。
存在包括 13 号染色体异常、IGH 重排或 P53 缺失之一的患者的中位生存率较短。III 期疾病患者的染色体 15 异常明显更高（p=0.02）。我们得出结论，在多发性骨髓瘤患者中，FISH 研究应与常规细胞遗传学分析相结合进行预后评估。
