Dewald G W, Kyle R A, Hicks G A, Greipp P R
Blood. 1985 Aug;66(2):380-90.
Chromosome studies were done on 82 patients with multiple myeloma, 11 with amyloidosis, 2 with multiple myeloma and amyloidosis, and 5 with plasma cell leukemia to investigate their chromosomal abnormalities and to determine the usefulness of cytogenetic studies. A chromosomally abnormal clone was found in 29 patients but was observed most often in those with active disease: in 18% of patients with newly diagnosed multiple myeloma, in 63% with aggressive disease, and in 40% with plasma cell leukemia. Survival among the newly diagnosed patients was significantly shorter (P = .0089) for those in whom an abnormal clone was identified (median survival, six months) than for those in whom only normal metaphases were observed (median survival, greater than 12 months). Among all of the patients, survival from the time of chromosome analysis was shorter for those in whom a chromosomally abnormal clone was found: the median survival was three months for patients with all abnormal metaphases and eight months for patients with normal and abnormal metaphases and has not yet been reached for patients with only normal metaphases. The most common anomalous chromosomes in patients with a plasma cell proliferative disorder were 1, 11, and 14: 11 patients had an abnormality involving chromosome 14q32 and nine patients had an anomalous chromosome 11. The single most common abnormality, a t(11;14)(q13;q32), occurred in three patients. Among the patients who developed preleukemia or acute nonlymphocytic leukemia, the most common anomaly involved chromosome 7. The results suggest that cytogenetic studies are useful for identifying patients who have a poor prognosis and can help distinguish patients with a cytopenia because of preleukemia from those with an aggressive plasma cell proliferative process.
对82例多发性骨髓瘤患者、11例淀粉样变患者、2例多发性骨髓瘤合并淀粉样变患者以及5例浆细胞白血病患者进行了染色体研究，以调查其染色体异常情况，并确定细胞遗传学研究的实用性。在29例患者中发现了染色体异常克隆，且在疾病活动期患者中最为常见：新诊断的多发性骨髓瘤患者中有18%出现异常克隆，侵袭性疾病患者中有63%出现异常克隆，浆细胞白血病患者中有40%出现异常克隆。新诊断患者中，鉴定出异常克隆的患者（中位生存期为6个月）的生存期明显短于仅观察到正常中期分裂相的患者（中位生存期大于12个月）（P = 0.0089）。在所有患者中，发现染色体异常克隆的患者自染色体分析时起的生存期较短：所有中期分裂相均异常的患者中位生存期为3个月，中期分裂相正常与异常并存的患者中位生存期为8个月，仅中期分裂相正常的患者中位生存期尚未达到。浆细胞增殖性疾病患者中最常见的异常染色体是1号、11号和14号染色体：11例患者存在涉及14q32的异常，9例患者存在11号异常染色体。最常见的单一异常，即t(11;14)(q13;q32)，发生在3例患者中。在发生白血病前期或急性非淋巴细胞白血病的患者中，最常见的异常涉及7号染色体。结果表明，细胞遗传学研究有助于识别预后不良的患者，并有助于区分因白血病前期导致血细胞减少的患者和侵袭性浆细胞增殖性疾病患者。
