Recurrent activating STAT5B N642H mutation in myeloid neoplasms with eosinophilia
Determining the underlying cause of persistent eosinophilia is important for effective clinical management but remains a diagnostic challenge in many cases. We identified STAT5B N642H, an established oncogenic mutation, in 27/1715 (1.6%) cases referred for investigation of eosinophilia. Of the 27 mu...
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| Hauptverfasser: | , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2019
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| In: |
Leukemia
Year: 2018, Jahrgang: 33, Heft: 2, Pages: 415-425 |
| ISSN: | 1476-5551 |
| DOI: | 10.1038/s41375-018-0342-3 |
| Online-Zugang: | Verlag, Volltext: https://doi.org/10.1038/s41375-018-0342-3 Verlag, Volltext: https://www.nature.com/articles/s41375-018-0342-3 
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| Verfasserangaben: | Nicholas C.P. Cross, Yvette Hoade, William J. Tapper, Gonzalo Carreno-Tarragona, Tiziana Fanelli, Mohamad Jawhar, Nicole Naumann, Iwo Pieniak, Johannes Lübke, Sahra Ali, Kaljit Bhuller, Sonja Burgstaller, Catherine Cargo, Jamie Cavenagh, Andrew S. Duncombe, Emma Das-Gupta, Paul Evans, Peter Forsyth, Philip George, Charlotte Grimley, Fergus Jack, Laura Munro, Varun Mehra, Kavita Patel, Ali Rismani, Gabriela Sciuccati, Rowena Thomas-Dewing, Patrick Thornton, Andres Virchis, Simon Watt, Louise Wallis, Alastair Whiteway, Kris Zegocki, Barbara J. Bain, Andreas Reiter, Andrew Chase |
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| 520 | |a Determining the underlying cause of persistent eosinophilia is important for effective clinical management but remains a diagnostic challenge in many cases. We identified STAT5B N642H, an established oncogenic mutation, in 27/1715 (1.6%) cases referred for investigation of eosinophilia. Of the 27 mutated cases, a working diagnosis of hypereosinophilic syndrome (HES; n = 7) or a myeloid neoplasm with eosinophilia (n = 20) had been made prior to the detection of STAT5B N642H. Myeloid panel analysis identified a median of 2 additional mutated genes (range 0-4) with 4 cases having STAT5B N642H as a sole abnormality. STAT5B N642H was absent in cultured T cells of 4/4 positive cases. Individuals with SF3B1 mutations (9/27; 33%) or STAT5B N642H as a sole abnormality had a markedly better overall survival compared to cases with other additional mutations (median 65 months vs. 14 months; hazard ratio = 8.1; P < 0.001). The overall survival of STAT5B-mutated HES cases was only 30 months, suggesting that these cases should be reclassified as chronic eosinophilic leukemia, not otherwise specified (CEL-NOS). The finding of STAT5B N642H as a recurrent mutation in myeloid neoplasia with eosinophilia provides a new diagnostic and prognostic marker as well as a potential target for therapy. | ||
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