ArticleMayo Clinic proceedings2019
Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias.
Article in Mayo Clinic proceedings, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Liver-associated findings and outcomes in a telomere biology disorders clinic.Hepatology communications · 2026Article
- Idiopathic hypereosinophilic syndrome: Potential pathologic somatic gene variants identified by exome sequencing.The journal of allergy and clinical immunology. Global · 2025Article
- Article
- Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26.Blood · 2023Article
- Clinical and molecular correlates from a predominantly adult cohort of patients with short telomere lengths.Blood cancer journal · 2021Article
- Clinical, molecular, and prognostic comparisons between CCUS and lower-risk MDS: a study of 187 molecularly annotated patients.Blood advances · 2021Article
- A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype.Haematologica · 2021Article
- Outcome of allogeneic hematopoietic stem cell transplantation for hypoplastic myelodysplastic syndrome.International journal of hematology · 2020Article
- Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes.Blood cancer journal · 2020Article
- Prevalence of Cytopenia in the General Population-A National Health and Nutrition Examination Survey Analysis.Frontiers in oncology · 2020Article
- Data-driven Sublanguage Analysis for Cancer Genomics Knowledge Modeling: Applications in Mining Oncological Genetics Information from Patients' Genetic Reports.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2020Article
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13 authors.
Funding
Abstract
objectiveTo demonstrate experience and feasibility of a precision medicine approach for patients with unexplained cytopenias, defined as low blood counts in one or more cell lineages, persistent for 6 months or longer, in the absence of known nutritional, autoimmune, infectious, toxic, and neoplastic (secondary) causes. PATIENTS AND
methodsPatients were evaluated in our clinic between November 8, 2016, and January 12, 2018. After a thorough evaluation of known causes, family history, and appropriate clinical assays, genomic evaluation was performed in a stepwise manner, through Sanger, targeted, and/or whole-exome sequencing. Variants were analyzed and discussed in a genomics tumor board attended by clinicians, bioinformaticians, and molecular biologists.
resultsSixty-eight patients were evaluated in our clinic. After genomic interrogation, they were classified into inherited bone marrow failure syndromes (IBMFS) (n=24, 35%), cytopenias without a known clinical syndrome which included idiopathic and clonal cytopenias of undetermined significance (CCUS) (n=30, 44%), and patients who did not fit into the above two categories ("others," n=14, 21%). A significant family history was found in only 17 (25%) patients (9 IBMFS, 2 CCUS, and 6 others), whereas gene variants were found in 43 (63%) patients (34 [79%] pathogenic including 12 IBMFS, 17 CCUS, and 5 others]. Genomic assessment resulted in a change in clinical management in 17 (25%) patients, as evidenced by changes in decisions with regards to therapeutic interventions (n=8, 47%), donor choice (n=6, 35%), and/or choice of conditioning regimen for hematopoietic stem cell transplantation (n=8, 47%).
conclusionWe show clinical utility of a real-world algorithmic precision medicine approach for unexplained cytopenias.
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