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Inherited and Genetic Disorders

Late effects in patients with Fanconi anemia following allogeneic hematopoietic stem cell transplantation from alternative donors

Bone Marrow Transplantation volume 51, pages 938–944 (2016)Cite this article

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Abstract

Hematopoietic stem cell transplantation (HSCT) is curative for hematological manifestations of Fanconi anemia (FA). We performed a retrospective analysis of 22 patients with FA and aplastic anemia, myelodysplastic syndrome or acute myelogenous leukemia who underwent a HSCT at Memorial Sloan Kettering Cancer Center and survived at least 1 year post HSCT. Patients underwent either a TBI- (N=18) or busulfan- (N=4) based cytoreduction followed by T-cell-depleted transplants from alternative donors. Twenty patients were alive at time of the study with a 5- and 10-year overall survival of 100 and 84% and no evidence of chronic GvHD. Among the 18 patients receiving a TBI-based regimen, 11 (61%) had persistent hemochromatosis, 4 (22%) developed hypothyroidism, 7 (39%) had insulin resistance and 5 (27%) developed hypertriglyceridemia after transplant. Eleven of 16 evaluable patients (68%), receiving TBI, developed gonadal dysfunction. Two patients who received a TBI-based regimen died of squamous cell carcinoma. One patient developed hemochromatosis, hypothyroidism and gonadal dysfunction after busulfan-based cytoreduction. TBI appears to be a risk factor for malignant and endocrine late effects in the FA host. Multidisciplinary follow-up of patients with FA (including cancer screening) is essential for early detection and management of late complications, and improving long-term outcomes.

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Acknowledgements

We thank the fellows, residents, nurses and nurse practitioners of the Department of Pediatrics at MSK and Rachel Lehrman and Joseph Olechnowicz for data management and editorial assistance. AP is the recipient of a St Baldrick’s Fellowship. We thank the Fanconi Anemia Research Fund for their support. This research was funded in part through the NIH/NCI Cancer Center Support Grant P30 CA008748.

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Authors and Affiliations

  1. Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA

    P Anur, D N Friedman, C Sklar, K Oeffinger, S E Prockop, N A Kernan, A Scaradavou, R Kobos, K Curran, J Ruggiero, N Zakak, R J O'Reilly & F Boulad

  2. Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA

    K Oeffinger

  3. Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA

    M Castiel & B Singh

  4. Department of Psychiatry, Memorial Sloan Kettering Cancer Center, New York, NY, USA

    J Kearney

  5. Department of Pediatrics, Weill Cornell Medical College, New York Presbyterian Hospital, New York, NY, USA

    F Boulad

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Correspondence to F Boulad.

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Anur, P., Friedman, D., Sklar, C. et al. Late effects in patients with Fanconi anemia following allogeneic hematopoietic stem cell transplantation from alternative donors. Bone Marrow Transplant 51, 938–944 (2016). https://doi.org/10.1038/bmt.2016.32

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