Draft consensus guidelines for diagnosis and treatment of Shwachman‐Diamond syndrome

Dror, Yigal; Donadieu, Jean; Köglmeier, Jutta; Dodge, J A; Toiviainen-Salo, Sanna; Mäkitie, Outi; Kerr, Elizabeth; Zeidler, Cornelia; Shimamura, Akiko; Shah, Neil; Cipolli, Marco; Kuijpers, Taco W.; Durie, Peter R.; Rommens, Johanna M.; Siderius, Liesbeth; Liu, Johnson M.

doi:10.1111/j.1749-6632.2011.06349.x

Cited by 197 publications

(220 citation statements)

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“…To date HSCT is proposed only in cases of SC. 42 However, the results of transplants appear very variable, depending on the indication for the graft. Despite the small numbers of patients analyzed, there was a significant difference in survival between patients receiving HSCT for non-malignant SC and those undergoing the procedure for leukemic transformation.…”

Section: Discussionmentioning

confidence: 99%

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

et al. 2012

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The online version of this article has a Supplementary Appendix. BackgroundPatients with the Shwachman-Diamond syndrome often develop hematologic complications. No risk factors for these complications have so far been identified. The aim of this study was to classify the hematologic complications occurring in patients with Shwachman-Diamond syndrome and to investigate the risk factors for these complications. Design and MethodsOne hundred and two patients with Shwachman-Diamond syndrome, with a median followup of 11.6 years, were studied. Major hematologic complications were considered in the case of definitive severe cytopenia (i.e. anemia <7 g/dL or thrombocytopenia <20×10 9 /L), classified as malignant (myelodysplasia/leukemia) according to the 2008 World Health Organization classification or as non-malignant. ResultsSevere cytopenia was observed in 21 patients and classified as malignant severe cytopenia (n=9), non-malignant severe cytopenia (n=9) and malignant severe cytopenia preceded by nonmalignant severe cytopenia (n=3). The 20-year cumulative risk of severe cytopenia was 24.3% (95% confidence interval: 15.3%-38.5%). Young age at first symptoms (<3 months) and low hematologic parameters both at diagnosis of the disease and during the follow-up were associated with severe hematologic complications (P<0.001). Fifteen novel SBDS mutations were identified. Genotype analysis showed no discernible prognostic value. ConclusionsPatients with Shwachman-Diamond syndrome with very early symptoms or cytopenia at diagnosis (even mild anemia or thrombocytopenia) should be considered at a high risk of severe hematologic complications, malignant or non-malignant. Transient severe cytopenia or an indolent cytogenetic clone had no deleterious value.Key words: Shwachman-Diamond syndrome, genotype, aplastic anemia, secondary leukemia, cytopenia, myelodysplasia, monosomy 7.Citation: Donadieu J, Fenneteau O, Beaupain B, Beaufils S, Bellanger F, Mahlaoui N, Lambilliotte A, Aladjidi N, Bertrand Y, Mialou V, Perot C, Michel G, Fouyssac F, Paillard C, Gandemer V, Boutard P, Schmitz J, Morali A, Leblanc T, Bellanné-Chantelot C, and Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

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Section: Discussionmentioning

confidence: 99%

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

et al. 2012

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“…52,53 Patients typically present early in life with neutropenia and steatorrhea; however, a subset of patients have atypical or cryptic clinical presentations. 54 Although neutropenia is the most common hematologic abnormality, anemia and thrombocytopenia are also common.…”

Section: Shwachman-diamond Syndrome: Clinical Featuresmentioning

confidence: 99%

Marrow failure: a window into ribosome biology

Ruggero

Shimamura

2014

Blood

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107

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Diamond-Blackfan anemia, Shwachman-Diamond syndrome, and dyskeratosis congenita are inherited syndromes characterized by marrow failure, congenital anomalies, and cancer predisposition. Genetic and molecular studies have uncovered distinct abnormalities in ribosome biogenesis underlying each of these 3 disorders. How defects in ribosomes, the essential organelles required for protein biosynthesis in all cells, cause tissue-specific abnormalities in human disease remains a question of fundamental scientific and medical importance. Here we review the overlapping and distinct clinical features of these 3 syndromes and discuss current knowledge regarding the ribosomal pathways disrupted in each of these disorders. We also explore the increasing complexity of ribosome biology and how this informs our understanding of developmental biology and human disease.

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“…It is a recessive disorder characterized by exocrine pancreatic insufficiency, skeletal abnormalities (metaphyseal dysostosis), mild intellectual retardation and bone marrow dysfunction manifested by cytopenia. 33 Patients with SDS are at an increased risk of developing aplastic anemia, MDS and AML where HSCT is the only curative option.…”

Section: Sdsmentioning

confidence: 99%

Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes

Latour

Peters

Gibson

et al. 2015

Bone Marrow Transplant

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Allogeneic hematopoietic stem cell transplantation (HSCT) offers the potential to cure patients with an inherited bone marrow failure syndrome (IBMFS). However, the procedure involves the risk of treatment-related mortality and may be associated with significant early and late morbidity. For these reasons, the benefits should be carefully weighed against the risks. IBMFS are rare, whereas case reports and small series in the literature illustrate highly heterogeneous practices in terms of indications for HSCT, timing, stem cell source and conditioning regimens. A consensus meeting was therefore held in Vienna in September 2012 on behalf of the European Group for Blood and Marrow Transplantation to discuss HSCT in the setting of IBMFS. This report summarizes the recommendations from this expert panel, including indications for HSCT, timing, stem cell source and conditioning regimen.

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Draft consensus guidelines for diagnosis and treatment of Shwachman‐Diamond syndrome

Abstract: Shwachman-Diamond syndrome (SDS) is

Cited by 197 publications

References 72 publications

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

Marrow failure: a window into ribosome biology

Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes

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