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目的:探讨伴有骨髓侵犯的弥慢大B细胞淋巴瘤(DLBCL)患者的常见细胞遗传学异常,以及这些遗传学异常对患者预后的影响。方法:回顾性分析本院具有完整细胞遗传学资料的47例伴骨髓侵犯DLBCL患者的骨髓染色体核型结果,分析其特征以及与预后的关系。结果:47例患者中25例检测出核型异常(53%),以复杂核型异常(≥3种异常)为主(19例,占40%)。异常核型最常累及的染色体为1和18号染色体(均为26%),其次分别为3号染色体(23%),6号染色体(19%),7、8和14号染色体(3者均为13%)。染色体异常的类型方面,最常见的数量异常为+3(13%),其次为+5、+7、+12、+18和-21(均6%),最常见的结构异常为1q+(17%),其次为1p+、2p21-p23异常、6q-、8q+、14q+、18p+和18q+(均6%)。预后影响分析发现IPI≥3分(P=0.03)和染色体核型异常(P=0.005)对无进展生存(PFS)有显著不利影响,IPI≥3分(P=0.024)、LDH高于3倍正常上限(P=0.027)和染色体核型异常(P=0.001)对总生存(OS)有显著不利影响。多因素分析显示,仅染色体核型异常是PFS(P=0.037,HR 2.323)和OS(P=0.015,HR 2.833)的独立不良预后因素。进一步分析核型异常的类型对预后的影响结果发现,1q+,8q+,+12,12q+,18p+和2p21-23异常对PFS有显著不良影响,1q+,+3,+5,+7,8q+,+12,12q+和2p21-23异常对OS有显著不利影响。综合临床特征及上述核型异常类型进行多因素分析结果表明,8q+(P=0.022,HR 2.701)和IPI≥3分(P=0.043,HR 2.949)对PFS有显著不利影响,1q+(P=0.032,HR 2.973)对OS有显著不利影响。结论:骨髓受累的DLBCL患者中,合并细胞遗传学异常的患者生存期更短,是其独立的不良预后因素,其中8q+和1q+分别是PFS和OS的独立不良预后因素。
Objective: To investigate the common cytogenetic abnormalities in patients with diffuse large B-cell lymphoma (DLBCL) associated with bone marrow invasion and the impact of these genetic abnormalities on the prognosis of patients. Methods: The chromosomal karyotypes of 47 patients with DLBCL with complete cytogenetics in our hospital were retrospectively analyzed. Their characteristics and prognosis were analyzed. Results: Of the 47 patients, karyotypic abnormalities were detected in 25 (53%) and complex karyotypes (≥3 abnormalities) (19, 40%). Abnormal karyotypes most frequently involve chromosomes 1 and 18 (both 26%), followed by chromosome 3 (23%), chromosome 6 (19%), chromosomes 7,8 and 14 (3 All 13%). The most common abnormalities were +3 (13%), followed by +5, +7, +12, +18 and -21 (all 6%). The most common structural abnormalities were 1q + (17 %) Followed by 1p +, 2p21-p23 abnormalities, 6q-, 8q +, 14q +, 18p + and 18q + (both 6%). Prognostic analysis showed that IPI≥3 (P = 0.03) and chromosomal abnormalities (P = 0.005) had a significant adverse effect on progression-free survival (PFS) with IPI≥3 (P = 0.024) and LDH higher than 3 The normal upper limit (P = 0.027) and chromosomal abnormalities (P = 0.001) had a significant adverse effect on overall survival (OS). Multivariate analysis showed that chromosomal karyotyping alone was an independent, poor prognostic factor for PFS (P = 0.037, HR 2.323) and OS (P = 0.015, HR 2.833). Further analysis of the impact of the type of abnormal karyotype on prognosis found that 1q +, 8q +, +12, 12q +, 18p + and 2p21-23 abnormalities on PFS had a significant adverse effect, 1q +, +3, +5, +7, 8q +, + 12, 12q + and 2p21-23 abnormalities have a significant adverse effect on OS. The results of multivariate analysis showed that 8q + (P = 0.022, HR 2.701) and IPI≥3 (P = 0.043, HR 2.949) had a significant negative effect on PFS, 1q + (P = 0.032 , HR 2.973) had a significant adverse effect on OS. CONCLUSIONS: Patients with bone marrow involvement in DLBCL have shorter survival and are independently associated with poor prognosis, with 8q + and 1q + being independent, poor prognostic factors for PFS and OS, respectively.