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. 2015 Jun;100(6):e223-5.
doi: 10.3324/haematol.2014.118034. Epub 2015 Mar 13.

High-throughput Mutational Screening Adds Clinically Important Information in Myelodysplastic Syndromes and Secondary or Therapy-Related Acute Myeloid Leukemia

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Free PMC article

High-throughput Mutational Screening Adds Clinically Important Information in Myelodysplastic Syndromes and Secondary or Therapy-Related Acute Myeloid Leukemia

Mohsen Karimi et al. Haematologica. .
Free PMC article

Abstract

No abstract available

Keywords: acute myeloid leukemia; high-throughput mutational screening; myelodysplastic syndromes; secondary; therapy-related.

Figures

Figure 1.
Figure 1.
Distribution of mutations and cytogenetic aberrations in 100 patient samples with myelodysplastic syndromes (MDS) and 92 samples with acute myeloid leukemia (AML). Each column represents one patient. The colors represent different subgroups of the diseases. *Denotes patients with MDS who subsequently progressed to AML and AML with a morphologically identified preceding MDS phase. ¤Denotes patients with normal karyotype and no mutation. aberr.: aberration; MK: monosomal karyotype; TSG: tumor suppressor gene.
Figure 2.
Figure 2.
Proportion of patients with a certain gene mutation that did or did not progress from myelodysplastic syndromes to acute myeloid leukemia. Blue bars consist of MDS with subsequent progression to AML and AML with an identified preceding diagnosis of MDS (n=39). Red bars consist of all cases from the myelodysplastic syndromes cohort without a known progression to acute myeloid leukemia (n=89). Median follow up was 57.3 months (9.7–113, SD±27.0) for MDS and 88.5 months (27.6–190, SD ±40.5) for acute myeloid leukemia patients.
Figure 3.
Figure 3.
Survival according to risk classification combined with mutational status. (A) Survival in IPSS-R very low+intermediate risk MDS versus high+very high risk myelodysplastic syndromes (MDS) with or without the presence of any mutation other than SF3B1. (B) Acute myeloid leukemia (AML)-free survival in IPSS-R very low+intermediate risk myelodysplastic syndromes (MDS) versus high+very high risk myelodysplastic syndromes (MDS) with or without the presence of any mutation other than SF3B1. (C) Survival in low+intermediate cytogenetic risk acute myeloid leukemia (AML) versus high cytogenetic risk acute myeloid leukemia (AML) with or without the presence of any mutation.

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