摘要目的:探讨多发性骨髓瘤（MM）6种常见细胞遗传学异常和骨髓病理形态学之间的关系。方法:对2016年1月至2018年6月首都医科大学附属北京朝阳医院血液科151例初诊MM患者行骨髓穿刺活检，同时通过CD138免疫磁珠富集骨髓瘤细胞，采用间期荧光原位杂交（FISH）技术对1q+、13q-、17p-、t（4；14）、t（11；14）和t（14；16）等MM常见遗传学异常进行检测，比较不同遗传学异常与活检形态学之间的关系。结果:151例患者中，伴髓外浸润者15例（9.9%）。细胞遗传学异常检出率为76.2%（115/151），其中1q+检出率为49.7%（75/151），13q-为39.1%（59/151），17p-为8.6%（13/151），t（4；14）为21.2%（32/151），t（11；14）为19.2%（29/151），t（14；16）为2.0%（3/151）。骨髓活检显示骨髓瘤细胞的增殖模式以结节型（48.3%，73/151）和间质型（33.8%，51/151）为主，弥漫型（17.9%，27/151）最少；瘤细胞病理形态以成熟型为主（58.3%，88/151），其次依次为幼稚型（20.5%，31/151）、中间型（15.9%，24/151）及浆母细胞型（5.3%，8/151）。根据mSMART危险分层系统，高危组主要以幼稚型及浆母细胞型浆细胞弥漫型增殖为主；中危组以成熟型浆细胞结节型增殖为主；低危组以成熟型浆细胞浸润为主；阴性组以成熟型浆细胞间质型增殖为主；中间型浆细胞在各组的增殖方式无差异（ P>0.05）。 结论:骨髓活检组织中瘤细胞的增殖方式及形态，与细胞遗传学标志物相结合，可以使其在判断病变的严重度及预后方面更加完善。

abstractsObjective:To investigate the relationship between six common cytogenetic abnormalities and bone marrow pathomorphology in multiple myeloma (MM).Methods:Bone marrow biopsy was performed on 151 newly-diagnosed MM patients. Meanwhile, myeloma cells were enriched by CD138 immunomagnetic beads, and then lq+, 13q-, 17p-, t(4;14), t (11;14), t (14;16) and other common genetic abnormalities were detected using interphase fluorescence in situ hybridization (FISH). The relationship between different genetic abnormalities and biopsy morphology was compared.Results:Of the 151 patients, 15 had extramedullary infiltration (9.9%). The rate of cytogenetic abnormalities was 76.2% (115/151), of which 1q+ accounted for 49.7% (75/151), 13q-39.1% (59/151), 17p-8.6% (13/151), t(4;14) 21.2% (32/151), t(11;14) 19.2% (29/151), and t(14;16) 2.0% (3/151). The proliferation patterns of MM plasma cells were nodular (48.3%, 73/151), interstitial (33.8%, 51/151) and diffuse (17.9%, 27/151). The morphology of plasma cells was mainly mature type (58.3%, 88/151), followed by juvenile type (20.5%, 31/151), intermediate type (15.9%, 24/151) and plasmacyte type (5.3%, 8/151). According to the mSMART risk stratification system, the proliferation pattern of myeloma cells in the high-risk group was mainly diffuse type, and the morphology was mainly immature and plasmacyte type. In the middle-risk group, mature type myeloma cells were mainly nodular proliferating. In the low-risk and negative group, mature type myeloma cells were mainly interstitial proliferating. There was no difference in the probability of different proliferation modes of intermediate type plasma cells in each group.Conclusions:The proliferation pattern and morphology of plasma cells in bone marrow biopsy combined with cytogenetic markers can more accurately predict the severity and prognosis of MM.