Stem Cell Transplantation for Diamond–Blackfan Anemia. A Retrospective Study on Behalf of the Severe Aplastic Anemia Working Party of the European Blood and Marrow Transplantation Group (EBMT)

Miano, Maurizio; Eikema, Dirk-Jan; Fuente, Josu de la; Bosman, Paul; Ghavamzadeh, Ardeshir; Smiers, Frans J.; Sengeløv, Henrik; Yeşilipek, Akif; Formánková, Renata; Bader, Peter; Pérez, Miguel Ángel Díaz; Bertrand, Yves; Niemeyer, Charlotte M.; Diallo, S; Ansari, Marc; Bykova, Tatiana A; Faraci, Maura; Bonanomi, Sonia; Goździk, Jolanta; Satti, Tariq Mahmood; Bodova, Ivana; Wölfl, Matthias; Rocha, Vanderson; Mellgren, Karin; Rascon, Jelena; Holter, Wolfgang; Lange, Andrzej; Meisel, Roland; Béguin, Yves; Mozo, Yasmina; Kriván, Gergely; Sîrvent, Anne; Bruno, Bénédicte; Dalle, Jean Hugues; Onofrillo, Daniela; Giardino, Stefano; Risitano, Antonio M.; Latour, Régis Peffault de; Dufour, Carlo

doi:10.1016/j.jtct.2020.12.024

Cited by 19 publications

(19 citation statements)

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

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“…Two years later, Mugishima et al reported a three-year overall survival rate of 100% in children who underwent bone marrow transplantation compared to only 40% in those who underwent umbilical cord blood transplantation [ 5 ]. A more recent article published by Miano et al on behalf of the European Society for Blood and Marrow Transplantation reported that, in a large cohort of 106 patients with DBA, a three-year overall survival and event-free survival rate was 84% [ 6 ].…”

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confidence: 99%

“…HLA-matched sibling stem cell transplantation has favorable outcomes [ 5 , 6 , 7 ]. Mortality is mainly derived from treatment complications (iron toxicity, infections, complications related to stem cell transplant) but also from neoplastic conditions, which are more frequently reported in DBA than in the general population (solid tumors, leukemia, myelodysplastic syndrome) [ 8 , 9 , 10 ].…”

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Unusual Association of Diamond–Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review

et al. 2023

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Diamond–Blackfan anemia is a rare (6–7 million live births), inherited condition manifesting as severe anemia due to the impaired bone marrow production of red blood cells. We present the unusual case of a six month old infant with a de novo mutation of the RPS19 gene causing Diamond–Blackfan anemia who additionally suffers from severe sinus bradycardia. The infant was diagnosed with this condition at the age of four months; at the age of 6 months, she presents with severe anemia causing hypoxia which, in turn, caused severe dyspnea and polypnea, which had mixed causes (hypoxic and infectious) as the child was febrile. After correction of the overlapping diarrhea, metabolic acidosis, and severe anemia (hemoglobin < 3 g/dL), she developed severe persistent sinus bradycardia immediately after mild sedation (before central venous catheter insertion), not attributable to any of the more frequent causes, with a heart rate as low as 49 beats/min on 24 h Holter monitoring, less than the first percentile for age, but with a regular QT interval and no arrhythmia. The echocardiogram was unremarkable, showing a small interatrial communication (patent foramen ovale with left-to-right shunting), mild left ventricular hypertrophy, normal systolic and diastolic function, and mild tricuspid regurgitation. After red cell transfusion and appropriate antibiotic and supportive treatment, the child’s general condition improved dramatically but the sinus bradycardia persisted. We consider this a case of well-tolerated sinus bradycardia and foresee a good cardiologic prognosis, while the hematologic prognosis remains determined by future corticoid response, treatment-related complications and risk of leukemia.

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“…Several factors might increase the risk of a secondary tumor in cancer patients, such as the use of specific agents (e.g., etoposide, temozolomide or radiation) and hematopoietic cell transplantation (HCT) [ 30 , 31 ]. Importantly, this risk is greatly increased in patients with CPS, because the CPS itself might result in metachronous precancerous lesions in several organs and several CPSs, such as Fanconi anemia (FA), Gorlin syndrome, Diskeratosis congenita (DC) and Schwachman–Diamond syndrome, might increase the treatment related genotoxicity [ 32 , 33 , 34 ]. Although in rare cases, the secondary neoplasm can affect the same organ and tissue of the first malignancy, more frequently, secondary neoplasms affect other organs.…”

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Diagnostic Strategies and Algorithms for Investigating Cancer Predisposition Syndromes in Children Presenting with Malignancy

Rossini

Durante

Bresolin

et al. 2022

Cancers

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In the past recent years, the expanding use of next-generation sequencing has led to the discovery of new cancer predisposition syndromes (CPSs), which are now known to be responsible for up to 10% of childhood cancers. As knowledge in the field is in constant evolution, except for a few “classic” CPSs, there is no consensus about when and how to perform germline genetic diagnostic studies in cancer-bearing children. Several clinical screening tools have been proposed to help identify the patients who carry higher risk, with heterogeneous strategies and results. After introducing the main clinical and molecular features of several CPSs predisposing to solid and hematological malignancies, we compare the available clinical evidence on CPS prevalence in pediatric cancer patients and on the most used decision-support tools in identifying the patients who could benefit from genetic counseling and/or direct genetic testing. This analysis highlighted that a personalized stepwise approach employing clinical screening tools followed by sequencing in high-risk patients might be a reasonable and cost-effective strategy in the care of children with cancer.

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Stem Cell Transplantation for Diamond–Blackfan Anemia. A Retrospective Study on Behalf of the Severe Aplastic Anemia Working Party of the European Blood and Marrow Transplantation Group (EBMT)

Cited by 19 publications

References 16 publications

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

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

Unusual Association of Diamond–Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review

Diagnostic Strategies and Algorithms for Investigating Cancer Predisposition Syndromes in Children Presenting with Malignancy

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