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Mast cell leukemia: clinical and molecular features and survival outcomes of patients in the ECNM Registry
VE. Kennedy, C. Perkins, A. Reiter, M. Jawhar, J. Lübke, HC. Kluin-Nelemans, W. Shomali, C. Langford, J. Abuel, O. Hermine, M. Niedoszytko, A. Gorska, A. Mital, P. Bonadonna, R. Zanotti, I. Tanasi, M. Mattsson, H. Hagglund, M. Triggiani, AS....
Language English Country United States
Document type Journal Article, Research Support, Non-U.S. Gov't
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- MeSH
- Abnormal Karyotype MeSH
- Humans MeSH
- Leukemia, Mast-Cell * diagnosis genetics MeSH
- Mastocytosis * MeSH
- Mast Cells MeSH
- Mastocytosis, Systemic * diagnosis drug therapy genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
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.
Brno University Hospital and Faculty of Medicine Brno Czechia
Department of Allergology Medical University of Gdansk Gdańsk Poland
Department of Hematology Medical University of Gdansk Gdańsk Poland
Department of Hematology Semmelweis University Budapest Hungary
Department of Medicine Section of Hematology Verona University Hospital Verona Italy
Division of Allergy and Clinical Immunology University of Salerno Salerno Italy
Division of Hematology Istanbul Medical School University of Istanbul Istanbul Turkey
Hematology Unit Fondazione IRCCS Policlinico San Matteo Pavia Italy
Kepler University Hospital Linz Austria
Klinik für Hämatologie und Onkologie Universitätsklinikum Schleswig Holstein Lübeck Germany
Laboratory of Hematology Pitié Salpêtrière Hospital Paris France
Ludwig Boltzmann Institute for Hematology and Oncology Medical University of Vienna Vienna Austria
Luzerner Kantonsspital Lucerne Switzerland
Pediatric Dermatology Internal Medicine Azienda Ospedaliera Università di Padov Padua Italy
Stanford Cancer Institute Stanford University School of Medicine Stanford CA
Uniklinik Köln Klinik für Dermatologie und Venerologie Cologne Germany
Univ Klinik für Dermatologie Medical University of Graz Graz Austria
Universitätsklinikum Leipzig AöR Leipzig Germany
University Medical Center Groningen University of Groningen Groningen The Netherlands
References provided by Crossref.org
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- $a 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.
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