Survival and toxicity outcomes of hematopoietic stem cell transplantation for pediatric patients with Fanconi anemia: a unified multicentric national study from the Spanish Working Group for Bone Marrow Transplantation in Children

Sanjuan, Laura Murillo; González‐Vicent, Marta; Aparicio, B.; Badell, Isabel; Villa, Antonia Rodríguez; Uria-Oficialdegui, M. L.; López‐Duarte, Mónica; Beléndez-Bieler, Cristina; Urgelles, Ana Sastre; Navarro, J; Díaz‐de‐Heredia, Cristina

doi:10.1038/s41409-020-01172-y

Cited by 10 publications

(5 citation statements)

References 12 publications

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“…The prospective multi-center study by Mehta et al, including pediatric and adult patients, demonstrated a 3-year OS of 80% for recipients of alternative-donor ex vivo TCD transplant with TBI-free conditioning [ 6 ]. Other recent reports on outcomes after allo-HCT for Fanconi anemia also indicated similar outcomes as we see in our cohort, such as the Spanish multicenter study including 34 mainly pediatric patients (OS 73%) [ 7 ] and the report from Hadassah Medical Center, including 41 mostly pediatric patients (OS 82.9%) [ 14 ]…”

Section: Discussionsupporting

confidence: 88%

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Predictors of outcomes in hematopoietic cell transplantation for Fanconi anemia

Cancio,

Troullioud Lucas,

Bierings

et al. 2023

Bone Marrow Transplant

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Allogeneic hematopoietic cell transplantation (HCT) remains the only cure for the hematologic manifestations of Fanconi anemia (FA). We performed retrospective predictor analyses for HCT outcomes in FA for pediatric and young adult patients transplanted between 2007 and 2020 across three large referral institutions. Eighty-nine patients, 70 with bone marrow failure +/− cytogenetic abnormalities, 19 with MDS/AML, were included. Five-year overall survival (OS) was 83.2% and event-free survival (EFS) was 74%. Age ≥19, HLA mismatch and year of HCT were multivariable predictors (MVPs) for OS, EFS and treatment-related mortality (TRM). In the pediatric group, TCD was a borderline MVP (P = 0.059) with 5-year OS of 73.0% in TCD vs. 100% for T-replete HCT. The cumulative incidence of day 100 grade II-IV aGvHD and 5-year cGvHD were 5.6% and 4.6%, respectively. Relapse in the MDS/AML subgroup occurred in 4 patients (16%). Graft failure was seen in 9 patients (TCD 6/37 [16%]; T-replete 3/52 [5.7%]). Six patients developed malignancy after HCT. Survival chances after HCT for FA are excellent and associated with high engrafted survival and low toxicity. Age ≥19, HLA mismatch, year of transplant and ‘TCD in the <19 years group’ (although borderline) were found to be negative predictors for survival.

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Section: Discussionsupporting

confidence: 88%

“…Recent series describing outcomes after allo-HCT for FA have included relatively limited numbers of patients [ 6 , 7 ], or, when larger numbers of patients were included, have been registry studies, including data from centers with low volume of allo-HCT for FA [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

Predictors of outcomes in hematopoietic cell transplantation for Fanconi anemia

Cancio,

Troullioud Lucas,

Bierings

et al. 2023

Bone Marrow Transplant

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“…Currently, the only curative treatment to restore the function of the hematological system is hematopoietic stem cell transplantation. However, this procedure requires the intervention of a trained team due to the risk of recurrence, graft-versus-host disease, and mortality ( 42 ). Recently, new treatment strategies, such as gene therapy have been implemented, in which the complications associated with hematopoietic stem cell transplantation may be avoided ( 38 ).…”

Section: Clinical Presentationmentioning

confidence: 99%

An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review)

et al. 2021

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Fanconi anemia is a genetic syndrome clinically characterized by congenital malformations that affect several human systems, leads to progressive bone marrow failure and predisposes an individual to cancer, particularly in the urogenital area as well as the head and neck. It is commonly caused by the biallelic compromise of one of 22 genes involved in the FA/BRCA repair pathway in most cases. The diagnosis is based on clinical suspicion and confirmation using genetic analysis, where the chromosomal breakage test is considered the gold standard. Other diagnostic methods used include western blotting, multiplex ligation-dependent probe amplification and next-generation sequencing. This genetic condition has variable expressiveness, which makes early diagnosis difficult in certain cases. Although early diagnosis does not currently allow for improved cure rates for this condition, it does enable healthcare professionals to perform a specific systematic follow-up and, if indicated, a bone marrow transplantation that improves the mobility and mortality of affected individuals. The present review article is a theoretical revision of the pathophysiology, clinical manifestations and diagnosis methods intended for different specialists and general practitioners to improve the diagnosis of this condition.

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“…Although the dose of irradiation is low (100-200 cGy), researchers have observed secondary tumour rates ranging from 3% to 7%, which leads to poor prognosis. [22][23][24][25] The reported results of conditioning patients with FA without radiation in haplo-settings are limited to case studies. [26][27][28] A single-centre pilot study reported 15 unmanipulated haplo-HCTs in FA, showing an engraftment rate of 100% and excellent survival of 93% after fludarabine (Flu), cyclophosphamide (Cy) and anti-thymocyte globulin (ATG) conditioning.…”

Section: Introductionmentioning

confidence: 99%

“…However, currently, most studies in haplo‐HCT for FA have included radiation in the conditioning regimens. Although the dose of irradiation is low (100–200 cGy), researchers have observed secondary tumour rates ranging from 3% to 7%, which leads to poor prognosis 22–25 …”

Section: Introductionmentioning

confidence: 99%

Unmanipulated haploidentical haematopoietic cell transplantation with radiation‐free conditioning in Fanconi anaemia: A retrospective analysis from the Chinese Blood and Marrow Transplantation Registry Group

Lü

et al. 2022

Br J Haematol

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Summary Haematopoietic cell transplantation (HCT) is the only curative treatment for haematological complications in patients with Fanconi anaemia (FA). Haploidentical (haplo‐) HCT is a promising alternative for FA. We aimed to analyse the outcomes of unmanipulated haplo‐HCT in patients with FA with radiation‐free conditioning. A total of 56 patients from 11 centres between 2013 and 2021 in China were retrospectively analysed. The mean (SD) cumulative incidence was 96.4% (0.08%) for 30‐day neutrophil engraftment and 85.5% (0.24%) for 100‐day platelet engraftment. With a median (range) follow‐up of 2.4 (0.2–5.8) years, favourable mean (SD) overall survival of 80.9% (5.5%) and event‐free survival of 79.3% (5.6%) were achieved. The mean (SD) incidences of acute graft‐versus‐host disease (aGvHD) Grade II–IV and Grade III–IV were 55.4% (0.45%) and 42.9 (0.45%) respectively. The mean (SD) cumulative incidence of 3‐year chronic graft‐versus‐host disease (cGvHD) was 34.7% (0.86%) and that of moderate‐to‐severe cGvHD was 9.0% (0.19%). Our data demonstrate that in unmanipulated haplo‐HCT for patients with FA, radiation‐free regimens based on fludarabine and low‐dose cyclophosphamide ± busulfan achieved favourable engraftment and survival with relatively high incidences of aGvHD and cGvHD. These results prompt the use of low‐intensity conditioning without radiation and intensive GvHD prophylaxis when considering unmanipulated haplo‐HCT in patients with FA.

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Survival and toxicity outcomes of hematopoietic stem cell transplantation for pediatric patients with Fanconi anemia: a unified multicentric national study from the Spanish Working Group for Bone Marrow Transplantation in Children

Cited by 10 publications

References 12 publications

Predictors of outcomes in hematopoietic cell transplantation for Fanconi anemia

Predictors of outcomes in hematopoietic cell transplantation for Fanconi anemia

An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review)

Unmanipulated haploidentical haematopoietic cell transplantation with radiation‐free conditioning in Fanconi anaemia: A retrospective analysis from the Chinese Blood and Marrow Transplantation Registry Group

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