BACKGROUND: In a group of patients with systemic mastocytosis (SM), marked and sustained eosinophilia is detectable (SM-eo). OBJECTIVE: Although the molecular defect has been defined in some cases, little is known about the impact and clinical correlates of eosinophilia. METHODS: In a cohort of 63 patients with SM, we identified 9 with permanent eosinophilia (>1500/microL). According to the World Health Organization classification, 2 had indolent SM, 1 had smoldering SM, 2 had SM with associated chronic eosinophilic leukemia (SM-CEL), and 4 had aggressive SM. RESULTS: SM-eo was found to be associated with a significantly reduced probability of overall and event-free survival compared with SM without eosinophilia (P < .05). In the 2 patients with SM-CEL, a CHIC2 deletion was found. By contrast, no KIT mutation at codon 816 was detectable in these patients. In the other patients with SM-eo, KIT D816V was demonstrable. The 2 patients with SM-CEL had cardiomyopathy, whereas other organ systems remained largely unaffected. By contrast, in all other patients with SM-eo, organopathy, if recorded, affected the bone marrow, liver, or/and skeletal system, but not the heart, even when eosinophilia persisted for many years. CONCLUSIONS: The biochemical basis of eosinophilia in SM is variable and predictive for the type of organopathy. CLINICAL IMPLICATIONS: In SM eosinophilia is of prognostic significance but is not a final diagnosis and is not invariably associated with cardiomyopathy. The latter might be restricted to cases with an associated primary eosinophilic disorder (SM-CEL).
BACKGROUND: In a group of patients with systemic mastocytosis (SM), marked and sustained eosinophilia is detectable (SM-eo). OBJECTIVE: Although the molecular defect has been defined in some cases, little is known about the impact and clinical correlates of eosinophilia. METHODS: In a cohort of 63 patients with SM, we identified 9 with permanent eosinophilia (>1500/microL). According to the World Health Organization classification, 2 had indolent SM, 1 had smoldering SM, 2 had SM with associated chronic eosinophilic leukemia (SM-CEL), and 4 had aggressive SM. RESULTS: SM-eo was found to be associated with a significantly reduced probability of overall and event-free survival compared with SM without eosinophilia (P < .05). In the 2 patients with SM-CEL, a CHIC2 deletion was found. By contrast, no KIT mutation at codon 816 was detectable in these patients. In the other patients with SM-eo, KITD816V was demonstrable. The 2 patients with SM-CEL had cardiomyopathy, whereas other organ systems remained largely unaffected. By contrast, in all other patients with SM-eo, organopathy, if recorded, affected the bone marrow, liver, or/and skeletal system, but not the heart, even when eosinophilia persisted for many years. CONCLUSIONS: The biochemical basis of eosinophilia in SM is variable and predictive for the type of organopathy. CLINICAL IMPLICATIONS: In SM eosinophilia is of prognostic significance but is not a final diagnosis and is not invariably associated with cardiomyopathy. The latter might be restricted to cases with an associated primary eosinophilic disorder (SM-CEL).
Authors: Peter Valent; Joanna N G Oude Elberink; Aleksandra Gorska; Magdalena Lange; Roberta Zanotti; Björn van Anrooij; Massimiliano Bonifacio; Patrizia Bonadonna; Karoline V Gleixner; Emir Hadzijusufovic; Cecelia Perkins; Karin Hartmann; Anja Illerhaus; Serena Merante; Chiara Elena; Khalid Shoumariyeh; Nikolas von Bubnoff; Roberta Parente; Massimo Triggiani; Juliana Schwaab; Mohamad Jawhar; Francesca Caroppo; Anna Belloni Fortina; Knut Brockow; Rosemarie Greul; Akif Selim Yavuz; Michael Doubek; Mattias Mattsson; Hans Hagglund; Jens Panse; Vito Sabato; Elisabeth Aberer; Haifa Kathrin Al-Ali; Marie-Anne Morren; Judit Varkonyi; Alexander Zink; Marek Niedoszytko; Dietger Niederwieser; Luca Malcovati; Andreas Reiter; Vanessa Kennedy; Jason Gotlib; Olivier Lortholary; Olivier Hermine; Michel Arock; Hanneke Kluin-Nelemans; Wolfgang R Sperr Journal: J Allergy Clin Immunol Pract Date: 2018-11-08
Authors: Hanneke C Kluin-Nelemans; Andreas Reiter; Anja Illerhaus; Bjorn van Anrooij; Karin Hartmann; Lambertus F R Span; Aleksandra Gorska; Marek Niedoszytko; Magdalena Lange; Luigi Scaffidi; Roberta Zanotti; Patrizia Bonadonna; Cecelia Perkins; Chiara Elena; Luca Malcovati; Khalid Shoumariyeh; Nikolas von Bubnoff; Roberta Parente; Massimo Triggiani; Juliana Schwaab; Mohamad Jawhar; Francesca Caroppo; Anna Belloni Fortina; Knut Brockow; Alexander Zink; David Fuchs; Alex Kilbertus; Akif Selim Yavuz; Michael Doubek; Mattias Mattsson; Hans Hagglund; Jens Panse; Vito Sabato; Elisabeth Aberer; Dietger Niederwieser; Christine Breynaert; Judit Várkonyi; Vanessa Kennedy; Olivier Lortholary; Thilo Jakob; Olivier Hermine; Julien Rossignol; Michel Arock; Jason Gotlib; Peter Valent; Wolfgang R Sperr Journal: Leukemia Date: 2019-11-18 Impact factor: 11.528
Authors: Jason Gotlib; Animesh Pardanani; Cem Akin; Andreas Reiter; Tracy George; Olivier Hermine; Hanneke Kluin-Nelemans; Karin Hartmann; Wolfgang R Sperr; Knut Brockow; Lawrence B Schwartz; Alberto Orfao; Daniel J Deangelo; Michel Arock; Karl Sotlar; Hans-Peter Horny; Dean D Metcalfe; Luis Escribano; Srdan Verstovsek; Ayalew Tefferi; Peter Valent Journal: Blood Date: 2013-01-16 Impact factor: 22.113
Authors: Peter Valent; Amy D Klion; Lanny J Rosenwasser; Michel Arock; Bruce S Bochner; Joseph H Butterfield; Jason Gotlib; Torsten Haferlach; Andrzej Hellmann; Hans-Peter Horny; Kristin M Leiferman; Georgia Metzgeroth; Kenji Matsumoto; Andreas Reiter; Florence Roufosse; Marc E Rothenberg; Hans-Uwe Simon; Karl Sotlar; Peter Vandenberghe; Peter F Weller; Gerald J Gleich Journal: World Allergy Organ J Date: 2012-12 Impact factor: 4.084
Authors: Dirk Schäfer; Peter Dreßen; Stefan Brettner; Norbert-Folke Rath; Gerhard J Molderings; Katrin Jensen; Christina Ziemann Journal: J Transl Med Date: 2014-08-12 Impact factor: 5.531