Objective: To evaluate the clinical characteristics and outcomes of very high risk patients with primary immunoglobulin light-chain amyloidosis (pAL) at a single center in China. Method: Clinical data, treatment and outcome of 205 pAL patients in Peking Union Medical College Hospital from January 2009 to February 2016 were retrospectively analyzed. A 'very high risk' group includes patients with Mayo 2004 stage Ⅲb and Mayo 2012 stage 4. Results: Of 205 patients, 34 (16.6%) were defined as very high risk pAL patients. The median age at diagnosis was 57 (20-84) years, and 22 patients (64.7%) were male. All 34 patients were diagnosed with cardiac involvement, multi-organ involvement was observed in 15 patients (44.1%) , and 27 (81.8%) had New York Heart Association Class Ⅲ or Ⅳ. Median values of serum cTnI, NT-proBNP, and free light chains difference were 0.25 μg/L, 11 733 ng/L, and 403 mg/L, respectively. Eight (24.2%) had more than 10% plasma cell on the bone marrow aspirate. Sixteen (47.1%) patients received bortezomib based chemotherapy and overall hematologic response rate was 58.3%. Median overall survival (OS) was 4 months. The estimated OS at 3, 6, 12, and 24 months was 51.3%, 44.0%, 35.2%, and 29.6%, respectively. Fourteen (41.2%) patients died within 3 months after the diagnosis. The estimated 1-year survival rate for the patients who got hematologic response, without hematologic response, and palliative treatment was 90.9%, 11.1%, and 0, respectively (P<0.001) . Conclusion: Patients with very high risk pAL had very poor prognosis and the early death rate remained high. Those patients who obtained hematologic remission would have significantly better outcomes.
目的：探讨极高危原发性轻链型淀粉样变（pAL）患者的临床特征及其预后。 方法：回顾性分析2009年1月至2016年2月在北京协和医院确诊的205例pAL患者的临床资料，将梅奥2004分期Ⅲb期或梅奥2012分期4期的患者定义为极高危患者。 结果： 34例（16.6%）为极高危pAL患者，中位年龄57（20~84）岁，男性22例（64.7%）。所有患者均有心脏受累，15例（44.1%）患者的受累脏器≥ 3个。27例（81.8%）患者的心功能分级为3~4级，中位血清肌钙蛋白I为0.25（0.08~1.23）μg/L，中位血清N末端B型利钠肽前体为11 733（1 892~103 277）ng/L，中位血清游离轻链差值为403.0（18.1~ 1 911.6）mg/L，8例（24.2%）患者的骨髓浆细胞比例≥0.100。16例（47.1%）患者采用硼替佐米为主的化疗方案，总体血液学缓解率为58.3%。中位随诊27（1~40）个月，14例（41.2%）患者在诊断后3个月内死亡，中位生存时间仅为4个月。3、6、12和24个月的预期生存率分别为51.3%、44.0%、35.2%和29.6%。一线化疗后获得血液学缓解、未获得血液学缓解以及姑息治疗的患者1年预计存活率分别为90.9%、11.1%及0（P<0.001）。 结论：极高危pAL患者的预后极差，早期病死率高，获得血液学缓解的pAL患者有着明显更好的预后。.
Keywords: Bortezomib; Primary light chain amyloidosis; Very high risk.