Paluszewska Monika, Dwilewicz-Trojaczek Jadwiga, Stańczak Halina, Brycz-Witkowska Joanna, Chmarzyńska-Mróz Elzbieta, Rokicka Małgorzata, Torosian Tigran, Wasiutyński Aleksander, Jedrzejczak Wiesław W
Katedra i Klinika Hematologii, Onkologii i Chorób Wewnetrznych AM w Warszawie.
Pol Arch Med Wewn. 2003 Sep;110(3):973-9.
The aim of the study was to evaluate the clinical and prognostic significance of cytogenetic abnormalities in multiple myeloma patients. Cytogenetic studies were performed in 95 myeloma patients aged 31-82 (median 64) prior to chemotherapy. The GTG and CBG chromosome banding were performed and chromosomal abnormalities were described according to International System for Human Cytogenetic Nomenclature ISCN (1995). An abnormal karyotype was observed in 29% myeloma patients. Patients with an abnormal karyotypes showed various numerical and structural aberrations with hyperdiploidy in 39%, hypodiploidy in 39% and pseudodiploidy in 18% of patients. Monosomy of chromosome 13 was present in 29% of patients with an abnormal karyotype. Multiple myeloma patients with chromosomal abnormalities had more advanced disease than those with normal karyotype (82% vs 57% had stage III myeloma). beta 2-microglobulin and LDH levels were higher and hemoglobin level was significantly lower in patients with an abnormal karyotype. The plasma cell involvement of bone marrow was significantly higher in these patients. Overall survival was significantly shorter of patients with abnormal karyotypes (median 24 months vs 18 months), particularly of patients with monosomy of chromosome 13 (median 14 months). Cytogenetic studies are helpful to evaluate the prognosis and treatment options in multiple myeloma patients.
本研究的目的是评估多发性骨髓瘤患者细胞遗传学异常的临床及预后意义。对95例年龄在31 - 82岁(中位年龄64岁)的骨髓瘤患者在化疗前进行了细胞遗传学研究。采用GTG和CBG染色体显带技术,并根据国际人类细胞遗传学命名系统ISCN(1995)描述染色体异常情况。在29%的骨髓瘤患者中观察到异常核型。核型异常的患者表现出各种数量和结构畸变,其中39%为超二倍体,39%为亚二倍体,18%为假二倍体。13号染色体单体在29%的核型异常患者中存在。染色体异常的多发性骨髓瘤患者比核型正常的患者疾病进展更严重(82% vs 57%为III期骨髓瘤)。核型异常患者的β2-微球蛋白和乳酸脱氢酶水平较高,血红蛋白水平显著较低。这些患者骨髓浆细胞浸润明显更高。核型异常患者的总生存期明显较短(中位生存期24个月 vs 18个月),尤其是13号染色体单体患者(中位生存期14个月)。细胞遗传学研究有助于评估多发性骨髓瘤患者的预后和治疗选择。