Long-term Survival, Organ Function and Malignancy after Hematopoietic Stem Cell Transplantation for Fanconi Anemia.

Publication Type:

Journal Article


Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation, Volume 22, Issue 7, p.1257-63 (2016)


We report on long-term survival in 157 patients with Fanconi anemia (FA) who survived 2 years or longer after their first transplant 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 post-transplantation with 12 of the deaths occurring beyond 5 years after transplantation. Donor chimerism was available for 149 patients; n=112 (76%) reported >95%, n=27 (18%), 90-95%, and n=8 (5%), 20-89% 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 prior to 2003 (HR: 7.87, p=0.001), chronic GVHD (HR: 3.80, p=0.004) and squamous cell carcinoma, post-transplant (HR 38.17, p<0.0001). The predominant cause of late mortality was squamous cell carcinoma with an incidence of 8% and 14% at 10 and 15 years post-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.