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.

  • Letter to the Editor
  • Published:

Successful allo-HSCT with a minimal myeloablative conditioning regimen in an adult patient with Fanconi’s anemia

Bone Marrow Transplantation volume 47, pages 159–160 (2012)Cite this article

Fanconi’s anemia (FA) is an autosomal recessive (and rarely X-linked) disorder, usually characterized by several congenital malformations, progressive BM failure and an increased incidence of malignancies. Cells from FA patients are characterized by chromosomal instability and marked sensitivity to DNA crosslinking alkylating agents such as mitomycin C1, which is pathognomonic. The median age at diagnosis of FA is under the age of 7 years; the reported age range is up to 56 years.2 A report from the International Fanconi Anemia Registry revealed that nearly 40% of patients had no reported physical findings.3 The heterogeneity of symptoms and the variety of the clinical course may lead to difficulties in diagnosing FA, especially in adult patients.

Here, we describe a case of adult FA without any reported physical findings receiving allo-HSCT from an unrelated donor after a minimal myeloablative conditioning regimen.

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

References

  1. 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: 565–568.

    Article  CAS  PubMed  Google Scholar 

  2. Alter BP . Diagnosis, genetics, and management of inherited bone marrow failure syndromes. Hematology Am Soc Hematol Educ Program 2007, 29–39.

    Article  Google Scholar 

  3. Giampietro PF, Adler-Brecher B, Verlander PC, Pavlakis SG, Davis JG, Auerbach AD . The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry. Pediatrics 1993; 91: 1116–1120.

    CAS  PubMed  Google Scholar 

  4. Sasaki MS, Tonomura A . A high susceptibility of Fanconi’s anemia to chromosome breakage by DNA cross-linking agents. Cancer Res 1973; 33: 1829–1836.

    CAS  PubMed  Google Scholar 

  5. Shimamura A, Montes de Oca R, Svenson JL, Haining N, Moreau LA, Nathan DG et al. A novel diagnostic screen for defects in the Fanconi anemia pathway. Blood 2002; 100: 4649–4654.

    Article  CAS  PubMed  Google Scholar 

  6. Guardiola P, Pasquini R, Dokal I, Ortega JJ, van Weel-Sipman M, Marsh JC et al. Outcome of 69 allogeneic stem cell transplantations for Fanconi anemia using HLA-matched unrelated donors: a study on behalf of the European Group for Blood and Marrow Transplantation. Blood 2000; 95: 422–429.

    CAS  PubMed  Google Scholar 

  7. Yabe H, Inoue H, Matsumoto M, Hamanoue S, Koike T, Ishiguro H et al. Allogeneic haematopoietic cell transplantation from alternative donors with a conditioning regimen of low-dose irradiation, fludarabine and cyclophosphamide in Fanconi anaemia. Br J Haematol 2006; 134: 208–212.

    Article  CAS  PubMed  Google Scholar 

  8. MacMillan ML, Wagner JE . Haematopoeitic cell transplantation for Fanconi anaemia—when and how? Br J Haematol 2010; 149: 14–21.

    Article  PubMed  Google Scholar 

  9. George B, Mathews V, Shaji RV, Srivastava V, Srivastava A, Chandy M . Fludarabine-based conditioning for allogeneic stem cell transplantation for multiply transfused patients with Fanconi’s anemia. Bone Marrow Transplant 2005; 35: 341–343.

    Article  CAS  PubMed  Google Scholar 

  10. Chaudhury S, Auerbach AD, Kernan NA, Small TN, Prockop SE, Scaradavou A et al. Fludarabine-based cytoreductive regimen and T-cell-depleted grafts from alternative donors for the treatment of high-risk patients with Fanconi anaemia. Br J Haematol 2008; 140: 644–655.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Author notes

  1. H Fujiwara

    Present address: Department of Bioregulatory Medicine, Ehime University Graduate School of Medicine, c/o Department of Cell proliferation and Cancer regulation, Proteomedicine Reserch Center, Toh-on city, Ehime, Japan,

Authors and Affiliations

  1. Department of Hematology and Immunology, Kagoshima University Hospital, Kagoshima, Japan

    K Maekawa, M Yoshimitsu, H Fujiwara, K Matsushita, H Kawada, H Hamada, S Suzuki, K Uozumi & N Arima

  2. Division of Hematology and Immunology, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan

    S Suzuki, K Uozumi & N Arima

  3. Department of Internal Medicine, National Hospital Organization Kagoshima Medical Center, Kagoshima, Japan

    M Ohtsuka & S Hanada

  4. Department of Cell Transplantation and Regenerative Medicine, Tokai University School of Medicine, Kanagawa, Japan

    M Yabe & H Yabe

Authors
  1. K Maekawa
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. M Yoshimitsu
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. H Fujiwara
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. K Matsushita
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. H Kawada
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. H Hamada
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. S Suzuki
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. K Uozumi
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. M Ohtsuka
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. S Hanada
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. M Yabe
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. H Yabe
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. N Arima
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to N Arima.

Ethics declarations

Competing interests

The authors declare no conflict of interest.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Maekawa, K., Yoshimitsu, M., Fujiwara, H. et al. Successful allo-HSCT with a minimal myeloablative conditioning regimen in an adult patient with Fanconi’s anemia. Bone Marrow Transplant 47, 159–160 (2012). https://doi.org/10.1038/bmt.2011.34

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/bmt.2011.34

Search

Advanced search

Quick links