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. 2016 Dec;30(12):2422-2426.
doi: 10.1038/leu.2016.247. Epub 2016 Aug 30.

Targeted sequencing informs the evaluation of normal karyotype cytopenic patients for low-grade myelodysplastic syndrome

E J Duncavage  1 , J O'Brien  1 , K Vij  2 , C A Miller  3 , G S Chang  3 , J Shao  2 , M A Jacoby  2 , S Heath  2 , M R Janke  2 , K Elliott  2 , R S Fulton  3   4 , C Fronick  3 , M O'Laughlin  3 , P Westervelt  2 , T J Ley  2   3   4 , R K Wilson  3   4   5 , M J Walter  2   4
Affiliations

Targeted sequencing informs the evaluation of normal karyotype cytopenic patients for low-grade myelodysplastic syndrome

E J Duncavage et al. Leukemia. 2016 Dec.
No abstract available

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Figures

Figure 1
Figure 1. Gene mutations present in cytopenic patients and subsequent clinical outcome
(a) Distribution of recurrent gene mutations by morphologic category in cytopenic patients. A total of 40 genes were mutated at least once. Colors indicate the morphologic classification: dysplasia (blue), equivocal dysplasia (orange), no dysplasia (green). (b) Frequency of cases in each diagnostic category with at least one somatic mutation. (c) Somatic mutation variant allele fractions (VAFs) by morphologic category. Red points indicate the maximum VAF for each case; blue bars indicate the median VAF for each category. (d) Number of somatic mutations per case for each diagnostic category. There was a significant difference between the number of mutations per case in the dysplasia vs. no dysplasia and equivocal dysplasia vs. no dysplasia categories (student's t-test); blue bars indicate median values. (e) Follow-up data for patients in the equivocal or no dysplasia categories grouped by mutational status. The length of the bar indicates the duration of follow-up; black triangles indicate when patients were treated for MDS; blue triangles indicate when follow-up sequencing was performed.
See this image and copyright information in PMC

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