Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Correspondence
  • Published:

Outcome of hematopoietic stem cell transplantation (HCT) from HLA-matched related donor for Fanconi anemia (FA) in adolescents and adults: a retrospective study by Eastern Mediterranean Blood and Marrow Transplantation Group (EMBMT)

Bone Marrow Transplantation volume 55, pages 1485–1490 (2020)Cite this article

Subjects

Abstract

Hematopoietic Stem Cell Transplantation (HSCT) is the only potentially curative treatment option for the hematologic complications that occur in patients with Fanconi anemia (FA). In this study, we present a retrospective multicenter analysis from the Eastern Mediterranean Blood and Marrow Transplantation Group (EMBMT) of matched related donor HSCT for FA in adolescents and adults transplanted between 1988 and 2015. Forty-five patients received HSCT with a median age at transplant of 18 years, the interquartile range (IQR) (15–23.5); 25 (55.6%) patients were females and 20 (44.4%) were males. Conditioning regimen was fludarabine-based in 29 (64.4%) patients, irradiation-based in five (11.1%) patients, and the remaining patients received other combinations. Indication for HSCT was bone marrow failure in 39 (86.7%) and myelodysplastic syndrome in six (13.3%) patients. Stem cell source was bone marrow in 22 (48.9%), peripheral blood in 20 (44.4%), umbilical cord blood in one (2.2%), and combination of bone marrow and cord blood in two (4.4%) patients. Twenty-seven (60%) patients engrafted and five (11.1%) had primary engraftment failure. The median time to neutrophil engraftment was 14 days (range 10–21 days); median time for platelet engraftment was 17 days (10–33 days). The probability of developing grade II–IV acute GVHD for all patients was 7.0% and chronic GVHD 36.6%. No new malignancies were reported. The OS probability was 53.6% (95% CI, 38.3–68.9%) with a median follow-up of 13 months (95% CI, 1–240). Our HLA-matched related HSCT results in AYA patients with FA compare favorably with other reported international registry data.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Fig. 1: OS for entire cohort.

References

  1. Fanconi G. Familial constitutional panmyelocytopathy, Fanconi’s anemia (F.A.). I. Clinical aspects. Semin Hematol. 1967;4:233–40.

    CAS  PubMed  Google Scholar 

  2. Alter BP. Fanconi’s anemia and malignancies. Am J Hematol. 1996;53:99–110. e-pub ahead of print 1996/10/01; 10.1002/(SICI)1096-8652(199610)53:2<99::AID-AJH7>3.0.CO;2-Z

    Article  CAS  Google Scholar 

  3. Alter BP. The bone marrow failure syndromes. In: Nathan DG, Oski FA, editors. Hematology of infancy and childhood. Philadelphia, PA: Saunders; 2003. p. 237.

  4. Butturini A, Gale RP, Verlander PC, Adler-Brecher B, Gillio AP, Auerbach AD. Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry Study. Blood. 1994;84:1650–5. e-pub ahead of print 1994/09/01

    Article  CAS  Google Scholar 

  5. Kutler DI, Singh B, Satagopan J, Batish SD, Berwick M, Giampietro PF, et al. A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood. 2003;101:1249–56. https://doi.org/10.1182/blood-2002-07-2170. e-pub ahead of print 2002/10/24

    Article  CAS  PubMed  Google Scholar 

  6. Rosenberg PS, Greene MH, Alter BP. Cancer incidence in persons with Fanconi anemia. Blood. 2003;101:822–6. https://doi.org/10.1182/blood-2002-05-1498. e-pub ahead of print 2002/10/24

    Article  CAS  PubMed  Google Scholar 

  7. Socie G, Devergie A, Girinski T, Piel G, Ribaud P, Esperou H, et al. Transplantation for Fanconi’s anaemia: long-term follow-up of fifty patients transplanted from a sibling donor after low-dose cyclophosphamide and thoraco-abdominal irradiation for conditioning. Br J Haematol. 1998;103:249–55. e-pub ahead of print 1998/10/29

    Article  CAS  Google Scholar 

  8. MacMillan ML, Davies SM, Orchard PJ, Ramsay NK, Wagner JE. Haemopoietic cell transplantation in children with juvenile myelomonocytic leukaemia. Br J Haematol. 1998;103:552–8. e-pub ahead of print 1998/11/25

    Article  CAS  Google Scholar 

  9. Berger R, Bernheim A, Gluckman E, Gisselbrecht C. In vitro effect of cyclophosphamide metabolites on chromosomes of Fanconi anaemia patients. Br J Haematol. 1980;45:565–8. e-pub ahead of print 1980/08/01

    Article  CAS  Google Scholar 

  10. Gluckman E, Devergie A, Dutreix J. Radiosensitivity in Fanconi anaemia: application to the conditioning regimen for bone marrow transplantation. Br J Haematol. 1983;54:431–40. e-pub ahead of print 1983/07/01

    Article  CAS  Google Scholar 

  11. Deeg HJ, Socie G, Schoch G, Henry-Amar M, Witherspoon RP, Devergie A, et al. Malignancies after marrow transplantation for aplastic anemia and fanconi anemia: a joint Seattle and Paris analysis of results in 700 patients. Blood. 1996;87:386–92. e-pub ahead of print 1996/01/01

    Article  CAS  Google Scholar 

  12. Kapelushnik J, Or R, Slavin S, Nagler A. A fludarabine-based protocol for bone marrow transplantation in Fanconi’s anemia. Bone Marrow Transpl. 1997;20:1109–10. https://doi.org/10.1038/sj.bmt.1701016. e-pub ahead of print 1998/02/18

    Article  CAS  Google Scholar 

  13. Aker M, Varadi G, Slavin S, Nagler A. Fludarabine-based protocol for human umbilical cord blood transplantation in children with Fanconi anemia. J Pediatr Hematol Oncol. 1999;21:237–9. e-pub ahead of print 1999/06/11

    Article  CAS  Google Scholar 

  14. Bitan M, Or R, Shapira MY, Aker M, Resnick IB, Ackerstein A, et al. Fludarabine-based reduced intensity conditioning for stem cell transplantation of Fanconi anemia patients from fully matched related and unrelated donors. Biol Blood Marrow Transpl. 2006;12:712–8. https://doi.org/10.1016/j.bbmt.2006.03.002. e-pub ahead of print 2006/06/21

    Article  CAS  Google Scholar 

  15. Maschan AA, Trakhtman PE, Balashov DN, Shipicina IP, Skorobogatova EV, Skvortsova YV, et al. Fludarabine, low-dose busulfan and antithymocyte globulin as conditioning for Fanconi anemia patients receiving bone marrow transplantation from HLA-compatible related donors. Bone Marrow Transpl. 2004;34:305–7. https://doi.org/10.1038/sj.bmt.1704580. e-pub ahead of print 2004/06/15

    Article  CAS  Google Scholar 

  16. Tan PL, Wagner JE, Auerbach AD, Defor TE, Slungaard A, Macmillan ML. Successful engraftment without radiation after fludarabine-based regimen in Fanconi anemia patients undergoing genotypically identical donor hematopoietic cell transplantation. Pediatr Blood Cancer. 2006;46:630–6. https://doi.org/10.1002/pbc.20538. e-pub ahead of print 2005/08/04

    Article  PubMed  Google Scholar 

  17. Ben Halim N, Hsouna S, Lasram K, Rejeb I, Walha A, Talmoudi F, et al. Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia. Am J Hum Biol. 2016;28:171–80. https://doi.org/10.1002/ajhb.22764. e-pub ahead of print 2015/07/17

    Article  PubMed  Google Scholar 

  18. Aljurf M, Nassar A, Hamidieh AA, Elhaddad A, Hamladji RM, Bazarbachi A, et al. Hematopoietic stem cell transplantation in the Eastern Mediterranean Region (EMRO) 2011–2012: a comprehensive report on behalf of the Eastern Mediterranean Blood and Marrow Transplantation Group (EMBMT). Hematol Oncol Stem Cell Ther. 2015;8:167–75. https://doi.org/10.1016/j.hemonc.2015.09.002. e-pub ahead of print 2015/10/11

    Article  PubMed  Google Scholar 

  19. Bierings M, Bonfim C, Peffault De Latour R, Aljurf M, Mehta PA, Knol C, et al. Transplant results in adults with Fanconi anaemia. Br J Haematol. 2018;180:100–9. https://doi.org/10.1111/bjh.15006. e-pub ahead of print 2017/11/03

    Article  CAS  PubMed  Google Scholar 

  20. Peffault de Latour R, Porcher R, Dalle JH, Aljurf M, Korthof ET, Svahn J, et al. Allogeneic hematopoietic stem cell transplantation in Fanconi anemia: the European Group for Blood and Marrow Transplantation experience. Blood. 2013;122:4279–86. https://doi.org/10.1182/blood-2013-01-479733. e-pub ahead of print 2013/10/23

    Article  CAS  PubMed  Google Scholar 

  21. Gluckman E, Auerbach AD, Horowitz MM, Sobocinski KA, Ash RC, Bortin MM, et al. Bone marrow transplantation for Fanconi anemia. Blood. 1995;86:2856–62. e-pub ahead of print 1995/10/01

    Article  CAS  Google Scholar 

Download references

Author information

Author notes

  1. Ghuzayel AlDawsari

    Present address: Internal Medicine Department, Royal Commission Health Service Program, AL-Lulu Road18, Jubial Industrial City, 11994, Saudi Arabia

Authors and Affiliations

  1. King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

    Ghuzayel AlDawsari, Riad El Fakih, Majed J. Dasouki, Hazzaa Alzahrani, Marwan Shaheen, Feras Alfraih, Mouhab Ayas, Ali Alahmari, Saud Alhayli, Hassan El Solh, Shahrukh Hashmi, Tusneem Elhassan, Syed Osman Ahmed & Mahmoud Aljurf

  2. National Cancer Institute, Cairo University, Cairo, Egypt

    Alaa Elhaddad, Mohamed Samra, Amr Nassar & Raafat Abdelfattah

  3. Centre National de Greffe de la Moelle Osseuse, Tunis, Tunisia

    Tarek Ben Othman & Lamia Torjemane

  4. Armed Forces Institute of Transplantation, Rawalpindi, Pakistan

    Parvez Ahmed & Tariq Mahmood Satti

  5. Hematology, Oncology and SCT Research Center, Tehran University of Medical Sciences, Tehran, Iran

    Ardeshir Ghavamzadeh

  6. American University of Beirut Medical Center, Beirut, Lebanon

    Ali Bazarbachi & Miguel Abboud

  7. Nasser Institute for Research and Treatment, Cairo, Egypt

    Gamal Fathy

Authors
  1. Ghuzayel AlDawsari
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Alaa Elhaddad
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Riad El Fakih
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Tarek Ben Othman
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Parvez Ahmed
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Ardeshir Ghavamzadeh
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Ali Bazarbachi
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Majed J. Dasouki
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Gamal Fathy
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Hazzaa Alzahrani
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Mohamed Samra
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Lamia Torjemane
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. Tariq Mahmood Satti
    View author publications

    You can also search for this author in PubMed Google Scholar

  14. Marwan Shaheen
    View author publications

    You can also search for this author in PubMed Google Scholar

  15. Feras Alfraih
    View author publications

    You can also search for this author in PubMed Google Scholar

  16. Mouhab Ayas
    View author publications

    You can also search for this author in PubMed Google Scholar

  17. Ali Alahmari
    View author publications

    You can also search for this author in PubMed Google Scholar

  18. Saud Alhayli
    View author publications

    You can also search for this author in PubMed Google Scholar

  19. Amr Nassar
    View author publications

    You can also search for this author in PubMed Google Scholar

  20. Miguel Abboud
    View author publications

    You can also search for this author in PubMed Google Scholar

  21. Raafat Abdelfattah
    View author publications

    You can also search for this author in PubMed Google Scholar

  22. Hassan El Solh
    View author publications

    You can also search for this author in PubMed Google Scholar

  23. Shahrukh Hashmi
    View author publications

    You can also search for this author in PubMed Google Scholar

  24. Tusneem Elhassan
    View author publications

    You can also search for this author in PubMed Google Scholar

  25. Syed Osman Ahmed
    View author publications

    You can also search for this author in PubMed Google Scholar

  26. Mahmoud Aljurf
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Ghuzayel AlDawsari.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

AlDawsari, G., Elhaddad, A., El Fakih, R. et al. Outcome of hematopoietic stem cell transplantation (HCT) from HLA-matched related donor for Fanconi anemia (FA) in adolescents and adults: a retrospective study by Eastern Mediterranean Blood and Marrow Transplantation Group (EMBMT). Bone Marrow Transplant 55, 1485–1490 (2020). https://doi.org/10.1038/s41409-020-0809-5

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/s41409-020-0809-5

Search

Advanced search

Quick links