2015
DOI: 10.1634/theoncologist.2015-0067
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Molecular Testing in Myelodysplastic Syndromes for the Practicing Oncologist: Will the Progress Fulfill the Promise?

Abstract: Myelodysplastic syndromes (MDS) are heterogeneous hematopoietic neoplasms that are driven by somatically acquired genetic mutations and epigenetic alterations. Accurate risk stratification is essential for delivery of risk-adaptive therapeutic interventions. The current prognostic tools sum the impact of clinical, pathologic, and laboratory parameters. Newer technologies with next-generation targeted deep sequencing and whole-genome and -exome sequencing have identified several recurrent mutations that play a … Show more

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Cited by 20 publications
(12 citation statements)
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References 94 publications
(116 reference statements)
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“…Despite the lack of evidence for this approach, some hematologists may already be using genetic sequencing results to make or confirm equivocal diagnoses of MDS in clinical practice. 27 Additional information on the prevalence, nature, and risk of somatic mutations detected in cytopenic patients who do not meet the diagnostic criteria for MDS are needed to determine whether this practice is justified. To address these questions, we report the results of 2 studies, 1 prospective and 1 retrospective, examining the frequency and nature of somatic mutations in patients with ICUS, comparing them to patients with clearly defined MDS.…”
mentioning
confidence: 99%
“…Despite the lack of evidence for this approach, some hematologists may already be using genetic sequencing results to make or confirm equivocal diagnoses of MDS in clinical practice. 27 Additional information on the prevalence, nature, and risk of somatic mutations detected in cytopenic patients who do not meet the diagnostic criteria for MDS are needed to determine whether this practice is justified. To address these questions, we report the results of 2 studies, 1 prospective and 1 retrospective, examining the frequency and nature of somatic mutations in patients with ICUS, comparing them to patients with clearly defined MDS.…”
mentioning
confidence: 99%
“…127,128 In the context of continual improvement in sequencing and profiling techniques such as NGS, SNP arrays, and gene expression profiling, new predictive tools may be founded and ultimately provide more reliable prognostic information to guide treatment decisions including the role and timing of allogeneic stem cell transplantation. 129,130…”
Section: A Global View and Future Directionsmentioning
confidence: 99%
“…33 Currently, there are no reliable ways to predict whether a patient will not respond to HMA, which means that many patients will be exposed to HMA-related treatment toxicities without benefiting from therapy. 34 Furthermore, it is unclear whether patients with stable disease on HMAs achieve a survival advantage from the drugs; if they do, this benefit lasts only a few months at best. 35 Once HMA Failure Occurs, the Outcomes Are Dismal…”
Section: Many Patients Treated With Hma Monotherapy Do Not Derive Anymentioning
confidence: 99%