Haploidentical Bone Marrow Transplantation with Post-Transplant Cyclophosphamide for Children and Adolescents with Fanconi Anemia

Carmem Bonfim, Lisandro Ribeiro, Samantha Nichele, Gisele Loth, Marco Bitencourt, Adriana Koliski, Cilmara Kuwahara, Ana Luiza Fabro, Noemi F. Pereira, Daniela Pilonetto, Monica Thakar, Hans Peter Kiem, Kristin Page, Ephraim J. Fuchs, Mary Eapen, Ricardo Pasquini

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


We describe haploidentical bone marrow transplantation with post-transplant cyclophosphamide (PT-CY) for 30 patients with Fanconi anemia (FA). Twenty-six patients were transplanted upfront, and the preparatory regimens included fludarabine 150 mg/m2 + total body irradiation 200 to 300 cGy ± CY 10 mg/kg without (n = 12) or with rabbit antithymocyte globulin (r-ATG) 4 to 5 mg/kg (n = 14). Four patients were rescued after primary or secondary graft failure after related or unrelated donor transplantation with the above regimen with (n = 2) or without r-ATG (n = 2). PT-CY at 25 mg/kg/day (total dose, 50 mg/kg) followed by cyclosporine and mycophenolate mofetil was given to all patients. All patients engrafted in the subgroup of patients who did not receive r-ATG (n = 14), but their transplant course was complicated by high rates of acute and chronic graft-versus-host disease (GVHD), and only 8 patients are alive. In the subgroup that received r-ATG (n = 16), 14 patients had sustained engraftment, severe GVHD rates were lower, and 13 patients are alive. Hemorrhagic cystitis occurred in 50% of patients, whereas cytomegalovirus reactivation occurred in 75%. One-year overall survival for the entire cohort was 73% (95% CI, 64% to 81%), and all surviving patients achieved full donor chimerism. In conclusion, haploidentical donor transplantation with PT-CY is a suitable option for FA patients without a matched related or unrelated donor.

Original languageEnglish (US)
Pages (from-to)310-317
Number of pages8
JournalBiology of Blood and Marrow Transplantation
Issue number2
StatePublished - Feb 1 2017


  • Fanconi anemia
  • Haploidentical
  • Inherited bone marrow failure syndromes

ASJC Scopus subject areas

  • Hematology
  • Transplantation


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