本文選題：漿細(xì)胞病 + 多發(fā)性骨髓瘤��； 參考：《中國(guó)實(shí)驗(yàn)血液學(xué)雜志》2016年05期

【摘要】：目的:通過(guò)CD138磁珠分選(MACS)結(jié)合間期熒光原位雜交(I-FISH)技術(shù)研究漿細(xì)胞病的細(xì)胞遺傳學(xué)特征,闡明MACS-FISH在漿細(xì)胞病遺傳學(xué)診斷中的應(yīng)用價(jià)值,以及探討我國(guó)漿細(xì)胞病FISH檢測(cè)標(biāo)準(zhǔn)化的問(wèn)題。方法:收集初診漿細(xì)胞病患者232例,其中MM 203例,AL淀粉樣變性24例,意義未明單克隆免疫球蛋白血癥(MGUS)5例。應(yīng)用MACS-FISH檢測(cè)漿細(xì)胞病的細(xì)胞遺傳學(xué)異常。比較染色體核型分析、常規(guī)間期FISH(C-FISH)與MACS-FISH細(xì)胞遺傳學(xué)異常檢出率的差異。按骨髓漿細(xì)胞比例分組,比較C-FISH與MACS-FISH的檢測(cè)敏感性。分析C-FISH、MACS-FISH異常陽(yáng)性細(xì)胞率與漿細(xì)胞比例的相關(guān)性,以及比較C-FISH和MACS-FISH克隆大小的檢出差異。結(jié)果:MACS-FISH檢出MM、AL淀粉樣變性、MGUS的細(xì)胞遺傳學(xué)異常的發(fā)生率為分別為85.9%、62.5%和60%。應(yīng)用染色體核型分析和C-FISH檢出MM細(xì)胞遺傳學(xué)異常的發(fā)生率分別為20.0%和64.7%,均顯著低于MACS-FISH(P0.001)。MACS-FISH檢出14q32異位、del(14q32)、t(11;14)、+17p13和并存2種及"g3種細(xì)胞遺傳學(xué)異常的陽(yáng)性率均顯著高于C-FISH檢測(cè)結(jié)果(P0.05)。當(dāng)骨髓漿細(xì)胞比例"f5%時(shí),MACS-FISH的陽(yáng)性檢出率顯著高于C-FISH(P=0.001),且MACS-FISH在不同漿細(xì)胞比例分組的陽(yáng)性檢出率均無(wú)統(tǒng)計(jì)學(xué)差異;而C-FISH在漿細(xì)胞比例"f5%時(shí)的陽(yáng)性檢出率顯著低于其余3組(P=0.013,P=0.001,P0.001)。C-FISH組各遺傳學(xué)異常和MACS-FISH組中+1q21、14q32異位的陽(yáng)性細(xì)胞率與漿細(xì)胞比例呈顯著正相關(guān)(P0.05)。MACSFISH組各種細(xì)胞遺傳學(xué)異常的克隆大小顯著大于C-FISH組(P0.001)。結(jié)論:MACS-FISH可以顯著提高漿細(xì)胞病細(xì)胞遺傳學(xué)異常的檢出率,能更好的反映漿細(xì)胞病的細(xì)胞遺傳學(xué)異常發(fā)生情況及其克隆大小。MACS-FISH可推薦作為國(guó)內(nèi)漿細(xì)胞病遺傳學(xué)診斷的標(biāo)準(zhǔn)方法,用于MM和SMM的危險(xiǎn)分層,以及MGUS、AL淀粉樣變性的遺傳學(xué)診斷和研究。
[Abstract]:Objective: to study the cytogenetic characteristics of plasma cell disease by CD138 magnetic beads sorting (Macs) and interphase fluorescence in situ hybridization (I-FISH), and to elucidate the value of MACS-FISH in the genetic diagnosis of plasma cell disease. And to discuss the standardization of fish detection in plasma cell disease in China. Methods: 232 patients with newly diagnosed plasmacytic disease were collected, including 24 cases of MM 203 cases with AL amyloidosis and 5 cases of unknown monoclonal immunoglobulinemia (MGUS). Cytogenetic abnormalities of plasma cell disease were detected by MACS-FISH. Compared with chromosome karyotype analysis, the difference of detection rate of cytogenetic abnormality between conventional interval fish (C-FISH) and MACS-FISH was found. The sensitivity of C-FISH and MACS-FISH was compared according to the proportion of bone marrow plasma cells. To analyze the correlation between the abnormal positive rate of MACS-FISH and the proportion of plasma cells, and to compare the difference of clone size between C-FISH and MACS-FISH. Results the incidence of cytogenetic abnormality of MGUS in MGUS detected by MMC S-FISH was 85.9% and 60%, respectively. The incidence of MM cytogenetic abnormalities detected by chromosome karyotype analysis and C-FISH was 20.0% and 64.7%, respectively, which was significantly lower than that of MACS-FISH (P0.001). MACS-FISH detected 14q32 ectopic (14q32) t (1114). The positive rates of 17p13, coexisting two and "g3 kinds of cytogenetic abnormalities were significantly higher than those of C-FISH (P0.05). The positive rate of MACS-FISH was significantly higher than that of C-FISH (P0. 001) when the ratio of bone marrow plasmacytes was 5%, and there was no significant difference in the positive rate of MACS-FISH in different proportion of plasma cells. The positive rate of C-FISH in plasma cell ratio "f5%" was significantly lower than that in the other three groups (P0.013, P0.001, P0.001). C-FISH group and MACS-FISH group, the positive rate of 1q2114q32 heterotopic cells was significantly positively correlated with the percentage of plasma cells (P0.05) .MACSFISH group had various cytogenetic abnormalities (P0.05). The clone size was significantly larger than that in C-FISH group (P0.001). Conclusion% MACS-FISH can significantly improve the detection rate of cytogenetic abnormalities of plasma cytopathic diseases, and can better reflect the occurrence of cytogenetic abnormalities and clone size. MACS-FISH can be recommended as a standard method for the genetic diagnosis of plasmacytic diseases in China. It is used for the genetic diagnosis and research of MM and SMM risk stratification and MGUSUS AL amyloidosis.
【作者單位】： 南京軍區(qū)南京總醫(yī)院血液科;
【基金】：南京軍區(qū)南京總醫(yī)院科研基金(2016024)
【分類號(hào)】：R733.3;R597

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