KIT D816V and JAK2 V617F mutations are seen recurrently in hypereosinophilia of unknown significance
Myeloproliferative neoplasms with eosinophilia are commonly characterized by a normal karyotype and remain poorly defined at the molecular level. We therefore investigated 426 samples from patients with hypereosinophilia of unknown significance initially referred for screening of the FIP1L1-PDGFRA (...
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| Hauptverfasser: | , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
28 May 2015
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| In: |
American journal of hematology
Year: 2015, Jahrgang: 90, Heft: 9, Pages: 774-777 |
| ISSN: | 1096-8652 |
| DOI: | 10.1002/ajh.24075 |
| Online-Zugang: | Verlag, teilw. kostenfrei, Volltext: http://dx.doi.org/10.1002/ajh.24075 Verlag, teilw. kostenfrei, Volltext: http://onlinelibrary.wiley.com.ezproxy.medma.uni-heidelberg.de/doi/10.1002/ajh.24075/abstract 
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| Verfasserangaben: | Juliana Schwaab, Roland Umbach, Georgia Metzgeroth, Nicole Naumann, Mohamad Jawhar, Karl Sotlar, Hans-Peter Horny, Timo Gaiser, Wolf-Karsten Hofmann, Susanne Schnittger, Nicholas C.P. Cross, Alice Fabarius, and Andreas Reiter |
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| 245 | 1 | 0 | |a KIT D816V and JAK2 V617F mutations are seen recurrently in hypereosinophilia of unknown significance |c Juliana Schwaab, Roland Umbach, Georgia Metzgeroth, Nicole Naumann, Mohamad Jawhar, Karl Sotlar, Hans-Peter Horny, Timo Gaiser, Wolf-Karsten Hofmann, Susanne Schnittger, Nicholas C.P. Cross, Alice Fabarius, and Andreas Reiter |
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| 520 | |a Myeloproliferative neoplasms with eosinophilia are commonly characterized by a normal karyotype and remain poorly defined at the molecular level. We therefore investigated 426 samples from patients with hypereosinophilia of unknown significance initially referred for screening of the FIP1L1-PDGFRA (FP) fusion gene also for KIT D816V and JAK2 V617F mutations. Overall, 86 (20%) patients tested positive: FP+ in 55 (12%), KIT D816V+ in 14 (3%), and JAK2 V617F+ in 17 (4%) patients, respectively. To gain better insight into clinical characteristics, we compared these cases with 31 additional and well-characterized KIT D816V+ eosinophilia-associated systemic mastocytosis (SM-eo) patients enrolled within the “German Registry on Disorders of Eosinophils and Mast cells.” Significant differences included younger age, male predominance, and higher eosinophil counts for FP+ cases while abdominal lymphadenopathy, ascites, and serum tryptase levels >100 μg/l were characteristic for those with KIT D816V. Leukocytes, hemoglobin, and splenomegaly did not differ significantly. A median of three additional mutations, most frequently TET2 and SRSF2, were identified in 12/13 KIT D816V+ SM-eo patients with available material indicating a more complex molecular pathogenesis. Median survival was not reached for FP+ cases but was only 26 and 41 months for KIT D816V+ SM and JAK2 V617F+ MPN-eo, respectively. Eosinophilia of ≥2 × 109/l was identified as discriminator for inferior survival in KIT D816V+ and/or JAK2 V617F+ patients (median survival 20 months vs. not reached, P = 0.002). Thus, there is a clear prognostic and therapeutic rationale for detection of KIT D816V and JAK2 V617F in the diagnostic work up of eosinophilia. | ||
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