腹壁脂肪组织、唇腺及骨髓3部位活检联合质谱分析技术诊断轻链型淀粉样变性的价值

The value of abdominal adipose tissue,labial gland and bone marrow combined with LMD/MS in the diagnosis of light chain amyloidosis

目的:分析腹壁脂肪组织、唇腺及骨髓3部位联合活检在诊断轻链型淀粉样变性中的应用,探讨3种微创活检方法在不同器官累及患者中的应用价值及3部位联合活检对提高诊断阳性率的意义。方法:回顾性分析我院2017年01月至2022年09月期间诊断的61例具有梅奥分期数据的轻链型淀粉样变患者的临床资料,分析3部位微创活检的阳性率,器官累及情况与不同部位活检的结果,2018年01月后我中心对于任1部位刚果红阳性的病例加做激光显微切割联合质谱(LMD/MS)分析。结果:联合应用腹壁脂肪活检、唇腺活检及骨髓活检的40例患者,至少1个部位阳性的为36例(90%),对刚果红阳性部位加做LMD/MS阳性率为100%。结论:3部位微创活检可以明显提高轻链型淀粉样变性的确诊率,LMD/MS技术最终对淀粉样变性的类型起定性作用;建议临床对怀疑轻链型淀粉样变性的患者常规进行腹壁皮下脂肪组织、唇腺、骨髓3部位活检并通过LMD/MS进一步印证。

Objective:To analyze the application of abdominal adipose tissue biopsy,labial gland biopsy and bone marrow biopsy in the diagnosis of light chain amyloidosis(AL),to evaluate the clinical value of 3 minimally invasive biopsy methods in patients with different organ involvement and the significance of 3-site combined biopsy in improving the positive rate of diagnosis.Methods:Retrospectively analyzed the clinical data of 61 patients which were diagnosed in our hospital between January 2017 and September 2022,to analyze the positive rate of 3 sites minimally invasive biopsy,organ involvement and the results of different sites biopsy,laser microdissection combined with mass spectrometry(LMD/MS)analysis was performed in January 2018 of Congo red stain positive cases in any sites.Results:Of 40 patients who underwent adipose tissue biopsy,labial gland biopsy and bone marrow biopsy,36(90%)patients were positive in at least one part,and the positive rate of LMD/MS was 100%in the positive part of Congo red stain.Conclusion:Three-site minimally invasive biopsy can significantly improve the diagnostic rate of light chain amyloidosis,LMD/MS technology can finally play a qualitative role in the type of amyloidosis.It is suggested that subcutaneous adipose tissue,labial gland and bone marrow biopsy should be performed in patients with suspected AL and confirmed by LMD/MS.