형질세포종양의 진단에서 선별검사들의 유용성 검토
Evaluation of the Screening Tests for the Diagnosis of Plasma Cell Neoplasm
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배경: 형질세포종양의 진단은 골수검사, 혈액과 소변의 단백전기영동검사 및 유리경쇄의 정량 등으로 이루어진다. 이 연구의 목적은 단클론단백이 검출된 환자들의 질환과 단클론단백의 특성에 대해 검토하여, 단클론단백 검출을 위한 최적의 선별검사를 찾고자 한다. 방법: 본 연구에서는 혈청이나 소변에서 단클론단백이 검출된113명의 환자의 진단과 검출된 단클론단백의 성상에 대해 후향적으로 검토하였다. 단클론단백 검출은 아가로즈겔전기영동과 모세혈관전기영동을 이용하였으며, 면역고정전기영동을 통해 단클론단백의 유형을 확인하였다. 유리경쇄검사는 혼탁분석법을 이용하였다. 결과: 113명 환자에서 단클론단백농도는 다발골수종(67%)에서2.66 (0.87-9.48) g/dL, 미결정유의성단클론감마병증(26%)에서 0.62(0.08-2.95) g/dL, 림프종(3%)에서 3.65 (1.59-6.54) g/dL, 발덴스트롬마크로글로불린혈증(2%)에서 1.99 (1.08-2.90) g/dL, 아밀로이드증(2%)에서 0.61 g/dL, POEMS 증후군(1%)에서 0.99 g/dL이었다. 다발골수종과 미결정유의성단클론감마병증에서 단클론단백의농도와 단클론단백의 유형에 따라 κ/λ 비에 차이를 보였다(P<0.001, P = 0.004). 혈청단백전기영동검사, 유리경쇄검사, 골수검사를 단독으로 시행하는 경우 양성률이 87.6%, 84.1%, 84.5%인 데 반해, 세 개 검사 중 두 개 검사를 동시에 선별검사로 하는 경우 양성률이 모두 100%로 진단적 민감도가 높았다. 결론: 혈청단백전기영동검사와 면역형을 확인하여 단클론단백을 검출하고 유리경쇄를 확인하는 것이 형질세포종양의 비침습적이며 효율적인 선별검사로 판단된다.
Abstract
Background: Plasma cell neoplasm is diagnosed by performing bone marrow examination, serum- and urine-protein electrophoresis, and quantification of free light chains of immunoglobulins. We characterized and quantified monoclonal proteins typical of different diagnosed conditions to determine the best screening test(s). Methods: We retrospectively reviewed diagnosis of and the characteristics of monoclonal proteins from 113 patients with monoclonal gammopathy. Monoclonal proteins were detected by agarose-gel electrophoresis and capillary electrophoresis, and if the results were ambiguous, they were confirmed by immunofixation electrophoresis. Free light chains were measured using nephelometry. Results: The concentrations of monoclonal proteins in 113 patients with different conditions were as follows: multiple myeloma (MM) (67%), 2.66(0.87-9.48) g/dL; monoclonal gammopathy of undetermined significance (MGUS) (26%), 0.62 (0.08-2.95) g/dL; lymphoma (3%), 3.65 (1.59-6.54)g/dL; Waldenstrom’s macroglobulinemia (2%), 1.99 (1.08-2.90) g/dL; amyloidosis (2%), 0.61 g/dL; and POEMS syndrome (1%), 0.99 g/dL. There was a significant difference in the concentration and κ/λ ratio (which was based on the immunetype of the monoclonal proteins) of the monoclonal proteins in patients with MM and MGUS (P <0.001 and P =0.004, respectively). The diagnostic sensitivity of serum-protein electrophoresis, freelight-chain assay, and bone marrow analysis was 87.6%, 84.1%, and 84.5%, respectively. The sensitivity of a combination of 2 or 3 of these tests was higher at 100%. Conclusions: A combination of protein electrophoresis with immunotyping and serum free-light-chain assay may be the best screening method for detecting monoclonal proteins since its non-invasiveness.
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