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Case Reports
. 2015 Feb 6;5(2):e278.
doi: 10.1038/bcj.2014.95.

Comprehensive genomic profiling identifies a novel TNKS2-PDGFRA fusion that defines a myeloid neoplasm with eosinophilia that responded dramatically to imatinib therapy

Z R Chalmers  1 , S M Ali  1 , R S Ohgami  2 , P V Campregher  3 , G M Frampton  1 , R Yelensky  1 , J A Elvin  1 , N A Palma  1 , R Erlich  1 , J-A Vergilio  4 , J Chmielecki  1 , J S Ross  5 , P J Stephens  1 , R Hermann  6 , V A Miller  1 , C R Miles  6
Affiliations
Case Reports

Comprehensive genomic profiling identifies a novel TNKS2-PDGFRA fusion that defines a myeloid neoplasm with eosinophilia that responded dramatically to imatinib therapy

Z R Chalmers et al. Blood Cancer J. .
No abstract available

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Figures

Figure 1
Figure 1
Intrachromosomal rearrangement of TNKS2 and PDGFRA results in a likely fusion gene. ANK, ankyrin domains; ECD, extracellular domain; SAM, sterile alpha motif; TM, transmembrane; TNKS-L, tankyrase-like; TyKD, kinase domain.
See this image and copyright information in PMC

References

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    1. Jain N, Cortes J, Quintás-Cardama A, Manshouri T, Luthra R, Garcia-Manero G, et al. Imatinib has limited therapeutic activity for hypereosinophilic syndrome patients with unknown or negative PDGFRα mutation status. Leuk Res. 2009;33:837–839. - PMC - PubMed
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    1. Pardanani A, Ketterling RP, Brockman SR, Flynn HC, Paternoster SF, Shearer BM, et al. CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy. Blood. 2003;102:3093–3096. - PubMed

MeSH terms

Supplementary concepts