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Mast cell leukemia: clinical and molecular features and survival outcomes of patients in the ECNM Registry

Mast cell leukemia (MCL) is a rare subtype of systemic mastocytosis defined by ≥20% mast cells (MC) on a bone marrow aspirate. We evaluated 92 patients with MCL from the European Competence Network on Mastocytosis registry. Thirty-one (34%) patients had a diagnosis of MCL with an associated hematolo...

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Main Authors: Kennedy, Vanessa (Author) , Perkins, Cecelia (Author) , Reiter, Andreas (Author) , Jawhar, Mohamad (Author) , Lübke, Johannes (Author) , Kluin-Nelemans, Hanneke C. (Author) , Shomali, William (Author) , Langford, Cheryl (Author) , Abuel, Justin (Author) , Hermine, Olivier (Author) , Niedoszytko, Marek (Author) , Gorska, Aleksandra (Author) , Mital, Andrzej (Author) , Bonadonna, Patrizia (Author) , Zanotti, Roberta (Author) , Tanasi, Ilaria (Author) , Mattsson, Mattias (Author) , Hagglund, Hans (Author) , Triggiani, Massimo (Author) , Yavuz, Akif Selim (Author) , Panse, Jens (Author) , Christen, Deborah (Author) , Heizmann, Marc (Author) , Shoumariyeh, Khalid (Author) , Müller, Sabine (Author) , Elena, Chiara (Author) , Malcovati, Luca (Author) , Fiorelli, Nicolas (Author) , Wortmann, Friederike (Author) , Vucinic, Vladan (Author) , Brockow, Knut (Author) , Fokoloros, Christos (Author) , Papageorgiou, Sotirios G. (Author) , Breynaert, Christine (Author) , Bullens, Dominique (Author) , Doubek, Michael (Author) , Ilerhaus, Anja (Author) , Angelova-Fischer, Irena (Author) , Solomianyi, Oleksii (Author) , Várkonyi, Judit (Author) , Sabato, Vito (Author) , Rüfer, Axel (Author) , Schug, Tanja Daniela (Author) , Hermans, Maud A. W. (Author) , Fortina, Anna Belloni (Author) , Caroppo, Francesca (Author) , Bumbea, Horia (Author) , Gulen, Theo (Author) , Hartmann, Karin (Author) , Elberink, Hanneke Oude (Author) , Schwaab, Juliana (Author) , Arock, Michel (Author) , Valent, Peter (Author) , Sperr, Wolfgang R. (Author) , Gotlib, Jason (Author)
Format: Article (Journal)
Language:English
Published: May 9 2023
In: Blood advances
Year: 2023, Volume: 7, Issue: 9, Pages: 1713-1724
ISSN:2473-9537
DOI:10.1182/bloodadvances.2022008292
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1182/bloodadvances.2022008292
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Author Notes:Vanessa E. Kennedy, Cecelia Perkins, Andreas Reiter, Mohamad Jawhar, Johannes Lübke, Hanneke C. Kluin-Nelemans, William Shomali, Cheryl Langford, Justin Abuel, Olivier Hermine, Marek Niedoszytko, Aleksandra Gorska, Andrzej Mital, Patrizia Bonadonna, Roberta Zanotti, Ilaria Tanasi, Mattias Mattsson, Hans Hagglund, Massimo Triggiani, Akif Selim Yavuz, Jens Panse, Deborah Christen, Marc Heizmann, Khalid Shoumariyeh, Sabine Müller, Chiara Elena, Luca Malcovati, Nicolas Fiorelli, Friederike Wortmann, Vladan Vucinic, Knut Brockow, Christos Fokoloros, Sotirios G. Papageorgiou, Christine Breynaert, Dominique Bullens, Michael Doubek, Anja Ilerhaus, Irena Angelova-Fischer, Oleksii Solomianyi, Judit Várkonyi, Vito Sabato, Axel Rüfer, Tanja Daniela Schug, Maud A. W. Hermans, Anna Belloni Fortina, Francesca Caroppo, Horia Bumbea, Theo Gulen, Karin Hartmann, Hanneke Oude Elberink, Juliana Schwaab, Michel Arock, Peter Valent, Wolfgang R. Sperr, and Jason Gotlib
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Summary:Mast cell leukemia (MCL) is a rare subtype of systemic mastocytosis defined by ≥20% mast cells (MC) on a bone marrow aspirate. We evaluated 92 patients with MCL from the European Competence Network on Mastocytosis registry. Thirty-one (34%) patients had a diagnosis of MCL with an associated hematologic neoplasm (MCL-AHN). Chronic MCL (lack of C-findings) comprised 14% of patients, and only 4.5% had “leukemic MCL” (≥10% circulating MCs). KIT D816V was found in 62/85 (73%) evaluable patients; 9 (11%) individuals exhibited alternative KIT mutations, and no KIT variants were detected in 14 (17%) subjects. Ten evaluable patients (17%) had an abnormal karyotype and the poor-risk SRSF2, ASXL1, and RUNX1 (S/A/R) mutations were identified in 16/36 (44%) patients who underwent next-generation sequencing. Midostaurin was the most common therapy administered to 65% of patients and 45% as first-line therapy. The median overall survival (OS) was 1.6 years. In multivariate analysis (S/A/R mutations excluded owing to low event rates), a diagnosis of MCL-AHN (hazard ratio [HR], 4.7; 95% confidence interval [CI], 1.7-13.0; P = .001) and abnormal karyotype (HR, 5.6; 95% CI, 1.4-13.3; P = .02) were associated with inferior OS; KIT D816V positivity (HR, 0.33; 95% CI, 0.11-0.98; P = .04) and midostaurin treatment (HR, 0.32; 95% CI, 0.08-0.72; P = .008) were associated with superior OS. These data provide the most comprehensive snapshot of the clinicopathologic, molecular, and treatment landscape of MCL to date, and should help further inform subtyping and prognostication of MCL.
Item Description:Veröffentlicht: 27. April 2023
Gesehen am 08.08.2023
Physical Description:Online Resource
ISSN:2473-9537
DOI:10.1182/bloodadvances.2022008292

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