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J Clin Oncol. 2013 May 1; 31(13): 1669–1676.
Published online 2013 April 1. doi:  10.1200/JCO.2012.45.9719
PMCID: PMC3635221

Allogeneic Hematopoietic Cell Transplantation for Fanconi Anemia in Patients With Pretransplantation Cytogenetic Abnormalities, Myelodysplastic Syndrome, or Acute Leukemia



Allogeneic hematopoietic cell transplantation (HCT) can cure bone marrow failure in patients with Fanconi anemia (FA). Data on outcomes in patients with pretransplantation cytogenetic abnormalities, myelodysplastic syndrome (MDS), or acute leukemia have not been separately analyzed.

Patients and Methods

We analyzed data on 113 patients with FA with cytogenetic abnormalities (n = 54), MDS (n = 45), or acute leukemia (n = 14) who were reported to the Center for International Blood and Marrow Transplant Research from 1985 to 2007.


Neutrophil recovery occurred in 78% and 85% of patients at days 28 and 100, respectively. Day 100 cumulative incidences of acute graft-versus-host disease grades B to D and C to D were 26% (95% CI, 19% to 35%) and 12% (95% CI, 7% to 19%), respectively. Survival probabilities at 1, 3, and 5 years were 64% (95% CI, 55% to 73%), 58% (95% CI, 48% to 67%), and 55% (95% CI, 45% to 64%), respectively. In univariate analysis, younger age was associated with superior 5-year survival (≤ v > 14 years: 69% [95% CI, 57% to 80%] v 39% [95% CI, 26% to 53%], respectively; P = .001). In transplantations from HLA-matched related donors (n = 82), younger patients (≤ v > 14 years: 78% [95% CI, 64% to 90%] v 34% [95% CI, 20% to 50%], respectively; P < .001) and patients with cytogenetic abnormalities only versus MDS/acute leukemia (67% [95% CI, 52% to 81%] v 43% [95% CI, 27% to 59%], respectively; P = .03) had superior 5-year survival.


Our analysis indicates that long-term survival for patients with FA with cytogenetic abnormalities, MDS, or acute leukemia is achievable. Younger patients and recipients of HLA-matched related donor transplantations who have cytogenetic abnormalities only have the best survival.


Hematopoietic progenitor cells in Fanconi anemia (FA) are genetically unstable, leading to increased apoptosis and eventually to bone marrow failure,1,2 which is the main life-threatening problem in these patients.35 This defect also predisposes to an increased frequency of clonal cytogenetic abnormalities, myelodysplastic syndrome (MDS), and acute leukemia.512 Development of any of these conditions is associated with poorer survival.1215

Allogeneic hematopoietic cell transplantation (HCT) is the only curative modality for bone marrow failure in patients with FA. Excellent outcomes have been reported in recipients of HLA-matched related donor transplantations.1619 Outcomes after HCT in patients with FA who have pretransplantation cytogenetic abnormalities, MDS, or acute leukemia are less certain.16,2028

We analyzed data from the Center for International Blood and Marrow Transplant Research (CIBMTR) to determine survival of patients with FA with cytogenetic abnormalities only, MDS, or acute leukemia after HCT. Cumulative incidences of acute and chronic graft-versus-host disease (GVHD) and primary and secondary graft failure were evaluated.



The CIBMTR is a combined research program of the Medical College of Wisconsin and the National Marrow Donor Program. CIBMTR comprises a voluntary network of more than 450 transplantation centers worldwide that contribute detailed data on consecutive allogeneic and autologous HCT to a centralized Statistical Center. Observational studies conducted by the CIBMTR are performed in compliance with all applicable federal regulations pertaining to the protection of human research participants. Protected health information used in the performance of such research is collected and maintained in CIBMTR's capacity as a public health authority under the Health Insurance Portability and Accountability Act Privacy Rule. Additional details regarding the data source are described elsewhere.29


Review of CIBMTR data from 1985 to 2007 identified 113 patients with FA and cytogenetic abnormalities, MDS, or acute leukemia before HCT. CIBMTR data were recorded as provided by the reporting centers; there was no central review of the cytogenetic abnormalities, MDS, or leukemia diagnoses.

End Points and Definitions

The primary outcome studied was survival. Patients were classified according to the presence of cytogenetic abnormalities, MDS, or acute leukemia, as reported by the transplantation center. Patients with cytogenetic abnormalities as well as MDS or acute leukemia were classified as MDS or acute leukemia, respectively.

Patients were considered to have an event at time of death from any cause; survivors were censored at last contact. Time to engraftment was calculated as the interval from transplantation to the first of 3 consecutive days with an absolute neutrophil count (ANC) of ≥ 500/μL. Primary graft failure was defined as failure to achieve an ANC of ≥ 500/μL after HCT, and secondary graft failure was defined as sustained loss of ANC (< 500/μL) after initial recovery. Acute GVHD was graded using the International Bone Marrow Transplant Registry Severity Index.30 Chronic GVHD was diagnosed using published criteria.31 Death without the event was considered a competing event for engraftment and GVHD.

Statistical Analyses

Probability of survival was calculated using the Kaplan-Meier method, with the variance estimated by the Greenwood formula. Engraftment incidence and the cumulative incidences of secondary graft failure and acute and chronic GVHD were estimated using the cumulative incidence function to accommodate for competing risks.32

Proportions were compared using the χ2 test, and continuous variables were compared using the Wilcoxon rank sum test. Univariate analysis of the correlation between 5-year survival and proposed prognostic factors was conducted. These factors include conditioning regimen, type of clonal disease before transplantation (cytogenetic abnormalities only, MDS, or acute leukemia), year of transplantation (before 2000 v in or after 2000), donor type,33 and age at transplantation (the study population was divided into two groups based on the median age). Five-year survival probabilities were compared using the pointwise test. Survival curves were compared using the log-rank test. The association between acute and chronic GVHD and overall survival was examined in a univariate analysis. In this latter analysis, acute and chronic GVHD were entered in the model as time-dependent covariates.

Multivariate analysis was not feasible because of small sample size. SAS software, version 9.1 (SAS Institute, Cary, NC), was used in all analyses.


Patient characteristics are listed in Table 1. One hundred thirteen patients were reported from 46 centers worldwide. Fifty-four patients (48%) had cytogenetic abnormalities only, 45 (40%) had MDS, and 14 (12%) had acute leukemia. Patients in the cytogenetic abnormalities group were further classified as follows: complex abnormalities (≥ three distinct abnormalities; n = 18); chromosome 1 abnormalities (n = 8); chromosome 3 abnormalities (n = 1); chromosome 5 abnormalities (n = 3); chromosome 7 abnormalities (n = 4); and other noncomplex abnormalities (n = 20). Twelve patients had acute myeloid leukemia (AML), and two patients had acute lymphoblastic leukemia (ALL). Data on pre-HCT chemotherapy for these patients were available in only seven patients; six patients (four with AML and two with ALL) received chemotherapy before HCT, and one patient with AML never received any chemotherapy before conditioning. Median age at transplantation was 14 years (range, 1 to 57 years); median age was 15 years for those with leukemia/MDS and 13 years for those with cytogenetic abnormalities. Fifty-three patients (47%) were male. The median follow-up of survivors was 84 months (range, 3 to 253 months).

Table 1.
Characteristics of 113 Patients Who Underwent Allogeneic HCT for Fanconi Anemia With Clonal Hematopoiesis From 1985 to 2007 Based on Clonal Disease Type

Eighty-five patients (75%) received marrow stem cells (73 related and 12 unrelated), 13 patients received peripheral-blood stem cells (nine related and four unrelated), and 15 patients received umbilical cord blood grafts (two related and 13 unrelated).

Sixty-seven patients (60%) received radiation-based regimens. Forty-eight patients (42%) received total-body irradiation, and 19 patients (17%) received radiation as either total lymphoid irradiation or thoracoabdominal irradiation. Radiation dose ranged from 4 to 14 Gy, although the latter dose could not be verified. Thirty-one patients (27%) received fludarabine in their conditioning regimen, including 16 patients who received radiation-based conditioning. Antithymocyte globulin was given to 56 patients (50%). Most patients (80%) received cyclosporine-based GVHD prophylaxis (Table 1).

At the time of transplantation, three of 12 patients with AML were in first complete remission, one patient was in second complete remission, and four patients never achieved remission (one patient never received chemotherapy before HCT, whereas data on pre-HCT chemotherapy were missing for the remaining three patients). Data on the remission status of the remaining four patients were missing (data on pre-HCT chemotherapy were missing for all four cases). One patient with ALL was in first complete remission, and one patient never achieved remission. Classification of 31 patients with MDS was based on the French-American-British classification. Seventeen patients had early MDS (refractory anemia or refractory anemia with ringed sideroblasts), and 14 patients had advanced MDS (refractory anemia with excess blasts or refractory anemia with excess blasts in transformation).

Engraftment and GVHD

Seventy-eight percent of patients had neutrophil recovery by day 28 (95% CI, 70% to 85%) and 85% (95% CI, 78% to 91%) by day 100 (Appendix Table A1, online only). Cumulative incidence of secondary graft failure at 2 years after engraftment was 9% (95% CI, 4% to 15%; Appendix Table A2, online only). The small numbers of patients precluded detection of any correlation of graft failure with the studied variables (Appendix Tables A3 and A4, online only).

Cumulative incidences of acute GVHD grades B to D and C to D at day 100 were 26% (95% CI, 19% to 35%) and 12% (95% CI, 7% to 19%), respectively. Cumulative incidences of chronic GVHD were 20% (95% CI, 13% to 29%), 23% (95% CI, 15% to 32%), and 23% (95% CI, 15% to 32%) at 1, 3, and 5 years, respectively. Nine patients developed limited chronic GVHD, and 12 patients developed extensive chronic GVHD (Table 2).

Table 2.
Engraftment, Acute and Chronic GVHD, and Survival


Survival probabilities at 1, 3, and 5 years were 64% (95% CI, 55% to 73%), 58% (95% CI, 48% to 67%), and 55% (95% CI, 45% to 64%), respectively (Table 2 and Figs 1 and and2).2). In univariate analysis, age at transplantation significantly correlated with 5-year survival (≤ v > 14 years: 69% [95% CI, 57% to 80%] v 39% [95% CI, 26% to 53%], respectively; P = .001; Table 3). Exclusion of patients with chromosome 1 abnormalities from the cytogenetic abnormalities group (which in some previous reports has not impacted outcome)15 did not change the results (data not shown). Additionally, the development of acute and chronic GVHD was associated with increased overall mortality; the univariate hazard ratio was 1.95 (95% CI, 1.10 to 3.44; P = .02) for grades B to D acute GVHD and 2.79 for chronic GVHD (95% CI, 1.23 to 6.34; P = .01).

Fig 1.
Survival of all patients with Fanconi anemia with evidence of cytogenetic abnormalities, myelodysplastic syndrome, or leukemia at hematopoietic cell transplantation.
Fig 2.
Survival of patients with Fanconi anemia according to the presence of cytogenetic abnormalities, myelodysplastic syndrome (MDS), or leukemia at hematopoietic cell transplantation.
Table 3.
Univariate Analysis of Association of Prognostic Factors With 5-Year Overall Survival

In the cohort of recipients of HLA-matched related donor transplantations (n = 82), patients with cytogenetic abnormalities alone had better 5-year survival than did patients with MDS or acute leukemia (67% [95% CI, 52% to 81%] v 43% [95% CI, 27% to 59%], respectively; P = .03; Fig 3). A similar analysis for the unrelated donor recipients could not be carried out because of the small patient numbers. Younger age was also associated with significantly better 5-year survival in the related cohort (≤ v > 14 years: 78% [95% CI, 64% to 90%] v 34% [95% CI, 20% to 50%], respectively; P < .001).

Fig 3.
Survival of patients with Fanconi anemia after related donor hematopoietic cell transplantation (HCT; n = 82) according to the presence of only clonal abnormalities, myelodysplastic syndrome (MDS), or acute leukemia before HCT.

Data on remission status after HCT for patients with leukemia were only available on five of the 14 patients (two of the five patients had experienced relapse and died after HCT). The most common cause of death in the entire cohort was infection (18%), followed by organ failure (13%).


The underlying genomic instability that characterizes FA cells promotes the evolution of abnormal hematopoietic cell clones; this, in time, may lead to the development of clonal cytogenetic abnormalities, MDS, and acute leukemia. The most frequently reported chromosomal abnormalities involve gains or deletions of 1q, 3q, 5q, or monosomy 7. Additional complex and noncomplex abnormalities have been reported.7,14,14 The biologic significance of the cytogenetic abnormalities has been unclear because of reports of cytogenetic fluctuation.7,35,35

In patients without FA, MDS is a substantially heterogeneous disease, clinically and biologically, and it mostly affects older individuals,36,37 whereas in patients with FA, MDS and AML occur with the highest frequency during adolescence.3 However, diagnosing MDS in the bone marrow of patients with FA can be particularly challenging, because patients with FA may have dysplastic bone marrow morphology, which may be confused with MDS, and thus, the lack of central review is considered a major limitation in this multicenter study. Furthermore, the relationship between morphologic MDS and clonal cytogenetics is not well defined, although there is evidence that the development of cytogenetic aberrations is an adverse prognostic factor and may predict MDS/AML development and that some cytogenetic aberrations are more deleterious than others. Tonnies et al12 reported that in a cohort of 25 patients with FA, those with 3q aberrations (18 patients) had an increased risk of MDS and AML development compared with those without the aberrations. Mehta et al15 also reported that chromosome 3 and 7 aberrations, but not gain of 1q alone, were associated with increased risk of developing MDS/AML. However, patients with FA with evidence of MDS are more likely to have cytogenetic abnormalities. In a cohort of 23 patients with FA and MDS, 20 had concomitant cytogenetic abnormalities, and on follow-up, no patients demonstrated loss of any clones identified at initial presentation.14

Allogeneic HCT is the only curative modality for the bone marrow manifestations in patients with FA. HLA-matched related donor transplantations have been associated with an excellent outcome, with long-term overall survival of 80% to 85% in some studies.16,18,3842) The outcomes of alternative donor transplantations have been less satisfactory, but the results have improved in recent years. The use of fludarabine-based protocols seems to have dramatically increased overall survival and lowered graft rejection rates.16,18,4244

Allogeneic HCT is also considered the only curative modality for MDS in patients without FA, but because MDS most commonly affects older individuals, the transplantation decision and outcome are influenced by the comorbid medical problems of the patients.4547 Furthermore, there are currently multiple novel agents offering significant palliation for MDS in patients without FA who are not HCT candidates.4850

Data on post-HCT outcomes for patients with FA with pretransplantation cytogenetic abnormalities, MDS, or acute leukemia are limited. Most investigators include these patients in HCT studies of the general FA population. Furthermore, the follow-up period for most studies is short. Available data, however, do suggest favorable outcome. Socié et al20 reported five patients with FA and MDS (two also had abnormal cytogenetics) who were conditioned with cyclophosphamide (CY) and thoracoabdominal irradiation, four of whom are alive at 8 years. Ayas et al21 reported on 11 such patients (two with MDS with no cytogenetic abnormalities, eight with MDS and cytogenetic abnormalities, and one with AML with monosomy 7); 10 of 11 patients were alive without disease progression at a median follow-up of 46 months after HCT after conditioning with CY, antithymocyte globulin, and total-body irradiation. Bitan et al26 reported survival with no active disease of three patients with FA and MDS (no cytogenetics reported) at 45, 50, and 96 months after HCT; patients were conditioned with CY, fludarabine, and antithymocyte globulin (one had graft failure and received salvage treatment with a second HCT).

The current study demonstrates that long-term survival is achievable in patients with FA and cytogenetic abnormalities, MDS, or acute leukemia after HCT and that younger age is associated with better outcome, even in patients with acute leukemia (Table 3). In our study, related donor HCT recipients had primary and secondary graft failure rates that are within the ranges previously reported in the general FA population.4144,51) Because of small numbers, we cannot draw definitive conclusions on engraftment rates among unrelated donor and cord blood HCT recipients.

Our study demonstrates that, among matched related donor HCT recipients, patients with FA who only have cytogenetic abnormalities have better survival than patients who have MDS or leukemia (Fig 3). This observation is consistent with a report by Alter et al13 on 41 patients with FA with cytogenetic abnormalities, MDS, or both. The presence of MDS had an adverse impact on survival, with an estimated 5-year survival of 9%, compared with 92% for patients who had not developed MDS. Cytogenetic abnormalities had a lesser impact and were associated with an estimated 5-year survival of 40% compared to 94% in patients without cytogenetic abnormalities. However, that study did not address the impact of HCT on survival among those patients.13

Although patients with FA fare better with low-intensity conditioning,17,24,39,40) earlier studies suggested that the presence of cytogenetic abnormalities, MDS, or leukemia required more intensive conditioning.16,21) In our analysis, however, the use of radiation therapy did not improve outcome. In a previous CIBMTR study, Pasquini et al41 similarly concluded that the use of radiation was not associated with improved outcomes in patients with FA. This is particularly pertinent in this patient population where radiation has been implicated in the development of new cancers after transplantation.11,19,52,53 In addition, the use of fludarabine, which has been suggested to improve HCT outcome for patients with FA in matched related and unrelated HCT,18,4244,54,55) was not associated with a survival advantage in our study. However, these results should be interpreted with caution given the small sample size.

Despite its limitations, this is the largest study of transplantation outcomes in patients with FA and cytogenetic abnormalities, MDS, or leukemia. The data indicate that HCT can lead to long-term survival among these patients. Younger patients and recipients of HLA-matched related donor HCT who have cytogenetic abnormalities only have better long-term survival.

However, even with these encouraging results, the superior results of HCT in patients with FA without pretransplantation cytogenetic abnormalities, MDS, or leukemia suggest that the optimal timing of HCT in patients with FA should be when signs of bone marrow failure develop (eg, need for blood products support) and before the development of any cytogenetic abnormalities, MDS, or leukemia.


Table A1.

Cumulative Incidence of 100-Day Neutrophil Recovery (considering death as a competing risk)

Donor TypeNo. of PatientsIncidence (%)95% CI (%)
Related donor recipients829082 to 96
Unrelated donor/cords recipients*317457 to 88

*Lumped together because of small numbers in each group.

Table A2.

Two-Year (after initial neutrophil recovery) Cumulative Incidence of Secondary Graft Failure (considering death as a competing risk)

Donor TypeNo. of PatientsIncidence (%)95% CI (%)
Related donor recipients7372 to 14
Unrelated donor recipients13235 to 49
Cords recipients0

Table A3.

Characteristics of Patients Who Developed Primary Graft Failure

CharacteristicSuccessful Engraftment
Primary Graft Failure
No. of Patients%No. of Patients%
    Abnormal cytogenetics only3946847
Donor type
    Umbilical cords911635
Fludarabine-based conditioning

Abbreviations: ALL, acute lymphoblastic leukemia; AML, acute myeloid leukemia; ATG, antithymocyte globulin; MDS, myelodysplastic syndrome.

Table A4.

Characteristics of Patients Who Developed Secondary Graft Failure

VariableSuccessful Engraftment
Secondary Graft Failure
No. of Patients%No. of Patients%
    Abnormal cytogenetics only3946654
Donor type
    Umbilical cords91100

Abbreviations: ALL, acute lymphoblastic leukemia; AML, acute myeloid leukemia; ATG, antithymocyte globulin; MDS, myelodysplastic syndrome.


Support information appears at the end of this article.

M.A. and W.S. share first authorship.

The views expressed in this article do not reflect the official policy or position of the National Institutes of Health, the Department of the Navy, the Department of Defense, or any other agency of the US Government.

Authors' disclosures of potential conflicts of interest and author contributions are found at the end of this article.


The author(s) indicated no potential conflicts of interest.


Conception and design: Mouhab Ayas, Wael Saber, Stella M. Davies, Jennifer LeRademacher, Bruce M. Camitta, Richard Olsson, Baldeep Wirk, Abdullah Al Jefri, Biljana N. Horn, Marc Bierings, Robert Peter Gale

Provision of study materials or patients: All authors

Collection and assembly of data: Wael Saber, Biljana N. Horn

Data analysis and interpretation: Mouhab Ayas, Wael Saber, Stella M. Davies, Richard E. Harris, Gregory A. Hale, Gerard Socie, Jennifer LeRademacher, Monica Thakar, H. Joachim J. Deeg, Amal Al-Seraihy, Minoo Battiwalla, Bruce M. Camitta, Richard Olsson, Rajinder S. Bajwa, Carmem M. Bonfim, Ricardo Pasquini, Margaret L. MacMillan, Biju George, Edward A. Copelan, Baldeep Wirk, Anders L. Fasth, Eva C. Guinan, Biljana N. Horn, Victor A. Lewis, Shimon Slavin, Polina Stepensky

Manuscript writing: All authors

Final approval of manuscript: All authors


The Center for International Blood and Marrow Transplant Research is supported by Public Health Service Grant/Cooperative Agreement No. U24-CA76518 from the National Cancer Institute (NCI), the National Heart, Lung, and Blood Institute (NHLBI), and the National Institute of Allergy and Infectious Diseases; Grant/Cooperative Agreement No. 5U01HL069294 from NHLBI and NCI; Contract No. HHSH234200637015C from the Health Resources and Services Administration and Department of Health and Human Services; Grants No. N00014-06-1-0704 and N00014-08-1-0058 from the Office of Naval Research; and grants from Allos; Amgen; Angioblast; anonymous donation to the Medical College of Wisconsin; Ariad; Be the Match Foundation; Blue Cross and Blue Shield Association; Buchanan Family Foundation; CaridianBCT; Celgene Corporation; CellGenix; Children's Leukemia Research Association; Fresenius-Biotech North America; Gamida Cell Teva Joint Venture; Genentech; Genzyme; GlaxoSmithKline; HistoGenetics; Kiadis Pharma; The Leukemia and Lymphoma Society; The Medical College of Wisconsin; Merck; Millennium: The Takeda Oncology Company; Milliman USA; Miltenyi Biotec; National Marrow Donor Program; Optum Healthcare Solutions; Osiris Therapeutics; Otsuka America Pharmaceutical; RemedyMD; Sanofi; Seattle Genetics; Sigma-Tau Pharmaceuticals; Soligenix; StemCyte; Stemsoft Software; Swedish Orphan Biovitrum; Tarix Pharmaceuticals; Teva Neuroscience; THERAKOS; and Wellpoint.


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