Bonfim Carmem, Ribeiro Lisandro, Nichele Samantha, Bitencourt Marco, Loth Gisele, Koliski Adriana, Funke Vaneuza A M, Pilonetto Daniela V, Pereira Noemi F, Flowers Mary E D, Velleuer Eunike, Dietrich Ralf, Fasth Anders, Torres-Pereira Cassius C, Pedruzzi Paola, Eapen Mary, Pasquini Ricardo
Bone Marrow Transplantation Unit, Federal University of Paraná, Curitiba, Brazil.
Bone Marrow Transplantation Unit, Federal University of Paraná, Curitiba, Brazil.
Biol Blood Marrow Transplant. 2016 Jul;22(7):1257-1263. doi: 10.1016/j.bbmt.2016.03.007. Epub 2016 Mar 11.
We report on long-term survival in 157 patients with Fanconi anemia (FA) who survived 2 years or longer after their first transplantation with a median follow-up of 9 years. Marrow failure (80%) was the most common indication for transplantation. There were 20 deaths beyond 2 years after transplantation, with 12 of the deaths occurring beyond 5 years after transplantation. Donor chimerism was available for 149 patients: 112 (76%) reported > 95% chimerism, 27 (18%) reported 90% to 95% chimerism, and 8 (5%) reported 20% to 89% donor chimerism. Two patients have < 20% donor chimerism. The 10- and 15-year probabilities of survival were 90% and 79%, respectively. Results of multivariate analysis showed higher mortality risks for transplantations before 2003 (hazard ratio [HR], 7.87; P = .001), chronic graft-versus-host disease (GVHD) (HR, 3.80; P = .004) and squamous cell carcinoma after transplantation (HR, 38.17; P < .0001). The predominant cause of late mortality was squamous cell carcinoma, with an incidence of 8% and 14% at 10 and 15 years after transplantation, respectively, and was more likely to occur in those with chronic GVHD. Other causes of late mortality included chronic GVHD, infection, graft failure, other cancers, and hemorrhage. Although most patients are disease free and functional long term, our data support aggressive surveillance for long periods to identify those at risk for late mortality.
我们报告了157例范可尼贫血（FA）患者的长期生存情况，这些患者在首次移植后存活了2年或更长时间，中位随访时间为9年。骨髓衰竭（80%）是最常见的移植指征。移植后2年以上有20例死亡，其中12例死亡发生在移植后5年以上。149例患者可检测供体嵌合率：112例（76%）报告嵌合率>95%，27例（18%）报告嵌合率为90%至95%，8例（5%）报告供体嵌合率为20%至89%。2例患者供体嵌合率<20%。10年和15年的生存率分别为90%和79%。多变量分析结果显示，2003年前进行移植（风险比[HR]，7.87；P = 0.001）、慢性移植物抗宿主病（GVHD）（HR，3.80；P = 0.004）和移植后鳞状细胞癌（HR，38.17；P < 0.0001）的死亡风险更高。晚期死亡的主要原因是鳞状细胞癌，在移植后10年和15年的发病率分别为8%和14%，且更易发生于慢性GVHD患者。晚期死亡的其他原因包括慢性GVHD、感染、移植物衰竭、其他癌症和出血。尽管大多数患者长期无病且功能良好，但我们的数据支持进行长期积极监测，以识别有晚期死亡风险的患者。
