Stem cell transplantation for congenital dyserythropoietic anemia: an analysis from the European Society for Blood and Marrow Transplantation

Miano, Maurizio; Eikema, Dirk Jan; Aljurf, Mahmoud; Veer, Pieter J. Van't; Öztürk, Gülyüz; Wölfl, Matthias; Smiers, Frans J.; Schulz, A; Socié, Gèrard; Vettenranta, Kim; Heredia, Cristina Diaz de; Zecca, Marco; Maertens, Johan; Rovira, Montserrat; Sierra, Jorge; Uçkan-Çetinkaya, Duygu; Скоробогатова, Е. В.; Antmen, Ali Bülent; Dalle, Jean Hugues; Markiewicz, Mirosław; Hamladji, Rose Marie; Kitra-Roussou, Vassiliki; Nasa, Giorgio La; Kriván, Gergely; Al-Seiraihy, Amal; Giardino, Stefano; Risitano, Antonio M.; Latour, Régis Peffault de; Dufour, Carlo

doi:10.3324/haematol.2018.206623

Cited by 19 publications

(17 citation statements)

References 20 publications

(55 reference statements)

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“…87 Moreover, a recent study described the outcome of 39 CDA patients who underwent bone marrow transplantation. 88 The outcome appears to be improved for patients transplanted from matched sibling donors and without iron overload. Of note, iron overload is an important factor that should be treated before transplantation.…”

Section: Clinical Management Of Cda Patients and Future Therapiesmentioning

confidence: 99%

“…Of note, iron overload is an important factor that should be treated before transplantation. 88 One specific treatment that is available for CDAI patients is interferon-a. Although the number of treated subjects is limited, patients with CDAN1 mutations, but not those with the C15orf41 variants, have shown significant hematological responses to interferon-a, with improved hemoglobin levels and decreased dyserythropoiesis.…”

Section: Clinical Management Of Cda Patients and Future Therapiesmentioning

confidence: 99%

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Congenital dyserythropoietic anemias

Iolascon

Andolfo

Russo

2020

Blood

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Congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of inherited anemias that affect the normal differentiation-proliferation pathways of the erythroid lineage. They belong to the wide group of ineffective erythropoiesis conditions that mainly result in monolinear cytopenia. CDAs are classified into the three major types (I, II, III), plus the transcription-factor-related CDAs, and the CDA variants, on the basis of the distinctive morphological, clinical, and genetic features. Next-generation sequencing has revolutionized the field of diagnosis of and research into CDAs, with reduced time to diagnosis, and ameliorated differential diagnosis in terms of identification of new causative/modifier genes and polygenic conditions. The main improvements regarding CDAs have been in the study of iron metabolism in CDAII. The erythroblast-derived hormone erythroferrone specifically inhibits hepcidin production, and its role in the mediation of hepatic iron overload has been dissected out. We discuss here the most recent advances in this field regarding the molecular genetics and pathogenic mechanisms of CDAs, through an analysis of the clinical and molecular classifications, and the complications and clinical management of patients. We summarize also the main cellular and animal models developed to date, and the possible future therapies.

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Section: Clinical Management Of Cda Patients and Future Therapiesmentioning

confidence: 99%

Section: Clinical Management Of Cda Patients and Future Therapiesmentioning

confidence: 99%

Congenital dyserythropoietic anemias

Iolascon

Andolfo

Russo

2020

Blood

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“…tailored conditioning regimen when Stem Cell Transplantation (SCT) is indicated. [4][5][6][7] Constitutional marrow failure syndromes (CMFs), such as Fanconi Anemia (FA) and telomere diseases (TD), are genetic disorders in which MF is associated with specific clinical issues related to the underlying impaired molecular and biochemical pathways, such as DNArepair and telomere length maintenance, respectively. 8,9 However, the clinical phenotype of both disorders can be atypical and, in some cases, patients may present only with marrow failure (MF) without other signs or symptoms, thus mimicking the diagnosis of acquired idiopathic aplastic anemia.…”

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confidence: 99%

Genetic screening of children with marrow failure. The role of primary Immunodeficiencies

et al. 2021

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The differential diagnosis of marrow failure (MF) is crucial in the diagnostic work-up, since genetic forms require specific care. We retrospectively studied all patients with single/multi-lineage MF evaluated in a single-center to identify the type and incidence of underlying molecular defects. The diepoxybutane test was used to screen Fanconi Anemia. Other congenital MFs have been searched using Sanger and/or Next Generation Sequencing analysis, depending on the available tools over the years. Between 2009-2019, 97 patients (aged 0-32 years-median 5) with singlelineage (29%) or multilineage (68%) MF were evaluated. Fifty-three (54%) and 28 (29%) were diagnosed with acquired and congenital MF, respectively. The remaining 16 (17%), with trilinear (n=9) and monolinear (n=7) MF, were found to have an underlying primary immunodeficiency (PID) and showed clinical and biochemical signs of immune-dysregulation in 10/16 (62%) and in 14/16 (87%) of cases, respectively. Clinical signs were also found in 22/53 (41%) and 8/28 (28%) patients with idiopathic and classical cMF, respectively. Eight out of 16 PIDs patients were successfully transplanted, four received immunosuppression, two did not require treatment, and the remaining two died. We show that patients with single/multilineage MF may have underlying PIDs in a considerable number of cases and that MF may represent a relevant clinical sign in patients with PIDs, thus widening their clinical phenotype. An accurate immunological work-up should be performed in all patients with MF, and PID-related genes should be considered when screening MF in order to identify disorders that may receive targeted treatments and/or appropriate conditioning regimens before transplant. | INTRODUCTIONAn accurate diagnostic work-up of children with bone marrow failure (MF) is a critical step for clinical management of the disease. In particular, the differential diagnosis between constitutional and acquired forms is a key way to identify specific treatment strategies 1-3 and a M Miano and A. Grossi equally contributed to this work. This study was approved by local ethical committee. Patients' consent form was obtained. No material from other sources was used. Data are

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“…Conditioning regimens in these reports varied but mainly included BU, cyclophosphamide, ATG and, less frequently, FLU, MEL, or TT. A recent retrospective study from the European Society for Blood and Marrow Transplantation reviewed 39 adult and pediatric cases of CDA receiving related or unrelated HCT from 1996 to 2016 from various countries . The median age for patients receiving matched sibling donor HCT was 4 years compared to 7 years in those having unrelated donors.…”

Section: Discussionmentioning

confidence: 99%

Transfusion independence after repeated haploidentical hematopoietic cell transplants in a patient with congenital dyserythropoietic anemia type II and hemosiderosis

Macaraeg

Proytcheva

Katsanis

2019

Pediatric Transplantation

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Matched related or unrelated donor allogeneic HCT has occasionally been applied in patients with severe CDA type II and proven to be curative. We report on the first patient with CDA to undergo haploidentical bone marrow transplantation with PT‐CY. A 12‐year‐old boy with severe hemosiderosis, and a, consequently, disturbed BM microenvironment, developed recurrent graft failures and required salvage with two additional haploidentical HCTs. He achieved complete donor chimerism and transfusion independence after the third HCT. Our case underscores the risks associated with performing haploidentical HCT in older pediatric patients with CDA and severe chronic iron overload.

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Stem cell transplantation for congenital dyserythropoietic anemia: an analysis from the European Society for Blood and Marrow Transplantation

Cited by 19 publications

References 20 publications

Congenital dyserythropoietic anemias

Congenital dyserythropoietic anemias

Genetic screening of children with marrow failure. The role of primary Immunodeficiencies

Transfusion independence after repeated haploidentical hematopoietic cell transplants in a patient with congenital dyserythropoietic anemia type II and hemosiderosis

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