We describe the use of MALDI-TOF mass spectrometry in the analysis of a suspected case of gamma heavy chain disease. The patient had an abnormal serum immunofixation result where a monoclonal gamma heavy chain band was present without a corresponding light chain. Analysis by MALDI-TOF mass spectrometry revealed large peaks in the spectrum following IgG-specific purification. The m/z values of the peaks were outside the expected range for normal heavy chains or light chains. Corresponding peaks were not present in mass spectra of the kappa- or lambda-specific purifications. MALDI-TOF MS confirmed the presence of a truncated heavy chain without associated light chains. This case report demonstrates the value of mass spectrometry in interpreting challenging cases such as the identification of heavy chain disease.

中文翻译：

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使用MALDI-TOF质谱法鉴定γ重链疾病。

我们描述了在可疑的伽玛重链疾病病例分析中使用MALDI-TOF质谱仪。患者存在异常的血清免疫固定结果，其中存在单克隆伽玛重链带，但没有相应的轻链。通过MALDI-TOF质谱进行的分析显示，在进行IgG特异性纯化后，光谱中出现了一个大峰。峰的m / z值超出正常重链或轻链的预期范围。κ或λ特异性纯化的质谱图中不存在相应的峰。MALDI-TOF MS确认存在一条截短的重链，而没有相关的轻链。该病例报告证明了质谱法在解释具有挑战性的病例（如鉴定重链疾病）中的价值。