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Title: | Diagnostic evaluation and considerations in hypocellular bone marrow failure-A focus on genomics. | Authors: | Fox L.C.;Blombery P.;Ritchie D.S.;Wood E.M. | Institution: | (Fox, Ritchie, Blombery) Peter MacCallum Cancer Centre, Melbourne, VIC, Australia (Fox, Ritchie, Blombery) University of Melbourne, Melbourne, VIC, Australia (Fox, Wood) Transfusion Research Unit, Monash University, Melbourne, VIC, Australia (Wood) Monash Health, Melbourne, VIC, Australia | Issue Date: | 29-Jun-2020 | Copyright year: | 2020 | Publisher: | Blackwell Publishing Ltd | Place of publication: | United Kingdom | Publication information: | International Journal of Laboratory Hematology. 42 (S1) (pp 82-89), 2020. Date of Publication: 01 Jun 2020. | Journal: | International Journal of Laboratory Hematology | Abstract: | Hypocellular bone marrow failure (BMF) has myriad differential diagnoses, most simply considered as acquired and inherited disorders, which are frequently indistinguishable upon morphologic examination of the blood and bone marrow. Accurate diagnosis is critical to optimization of management and begins with a detailed history (including family history) and physical examination. Next-generation sequencing technologies complement traditional testing techniques (such as chromosomal fragility and telomere length assessment) and have a broad application in the diagnosis and prognostication of BMF, with the importance of detection of both germline changes and also somatic variants increasingly well understood and appreciated. There is increasing awareness of germline predisposition to haematological malignancy, which incorporates but is not limited to the traditional inherited BMF syndromes and which raises challenges for counselling, monitoring and treatment of people who harbour a germline lesion. There are many benefits to both patients and their kindred of accurate determination of the precise germline change underlying heritable bone marrow diseases, along with its associated mode of inheritance. While individually, these diseases are rare, collectively they are not so and there are many collaborative efforts underway to document the natural history of these disorders, the associated phenotypes and the ever-increasing list of variants which have sufficient evidence to warrant the ascription of a pathogenic classification. We describe the many diagnostic considerations when evaluating newly presenting patients with hypocellular BMF, with a focus on genomic assessment, which is relevant in both germline and acquired diseases.Copyright © 2020 John Wiley & Sons Ltd | DOI: | http://monash.idm.oclc.org/login?url=http://dx.doi.org/10.1111/ijlh.13179 | PubMed URL: | 32134198 [http://www.ncbi.nlm.nih.gov/pubmed/?term=32134198] | ISSN: | 1751-5521 | URI: | https://repository.monashhealth.org/monashhealthjspui/handle/1/29291 | Type: | Review | Subjects: | flow cytometry genetic association *genomics germline mutation hematologic malignancy high throughput sequencing human idiopathic thrombocytopenic purpura/et [Etiology] inheritance medical history myelodysplastic syndrome pathogenesis priority journal prognosis reticulocyte count review risk factor single nucleotide polymorphism somatic mutation telomere length thrombocytopenia/et [Etiology] whole exome sequencing ANKRD26 gene blood film cebpa gene ddx41 gene ETV6 gene GATA2 gene *hypocellular bone marrow failure/di [Diagnosis] *hypocellular bone marrow failure/et [Etiology] RUNX1 gene physical examination aplastic anemia/di [Diagnosis] blood examination bone marrow biopsy *bone marrow disease/di [Diagnosis] *bone marrow disease/et [Etiology] chromosome fragility *clinical evaluation cytogenetics diagnostic accuracy diagnostic test accuracy study differential diagnosis disease association disease predisposition disease registry disease severity family history flow cytometry genetic association genomics germline mutation hematologic malignancy high throughput sequencing idiopathic thrombocytopenic purpura inheritance medical history myelodysplastic syndrome pathogenesis reticulocyte count single nucleotide polymorphism somatic mutation telomere length thrombocytopenia whole exome sequencing ANKRD26 gene blood film cebpa gene ddx41 gene ETV6 gene GATA2 gene hypocellular bone marrow failure RUNX1 gene physical examination aplastic anemia blood examination bone marrow biopsy bone marrow disease chromosome fragility cytogenetics diagnostic accuracy diagnostic test accuracy study disease predisposition disease registry family history disease association disease predisposition disease registry disease severity family history flow cytometry genetic association *genomics germline mutation hematologic malignancy high throughput sequencing human idiopathic thrombocytopenic purpura / etiology inheritance medical history myelodysplastic syndrome pathogenesis physical examination priority journal prognosis reticulocyte count Review aplastic anemia / diagnosis single nucleotide polymorphism somatic mutation telomere length thrombocytopenia / etiology whole exome sequencing risk factor blood examination bone marrow biopsy *bone marrow disease / *diagnosis / *etiology chromosome fragility *clinical evaluation cytogenetics diagnostic accuracy diagnostic test accuracy study differential diagnosis |
Type of Clinical Study or Trial: | Review article (e.g. literature review, narrative review) |
Appears in Collections: | Articles |
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