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

•The median OS of patients with MCL was 1.6 years; a diagnosis of MCL-AHN and an abnormal karyotype were each associated with inferior outcomes.•Midostaurin was the most commonly used agent in MCL and was associated with improved OS in a multivariate analysis. [Display omitted] Mast cell leukemia (M...

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Published in:	Blood advances Vol. 7; no. 9; pp. 1713 - 1724
Main Authors:	Kennedy, Vanessa E., Perkins, Cecelia, Reiter, Andreas, Jawhar, Mohamad, Lübke, Johannes, Kluin-Nelemans, Hanneke C., Shomali, William, Langford, Cheryl, Abuel, Justin, Hermine, Olivier, Niedoszytko, Marek, Gorska, Aleksandra, Mital, Andrzej, Bonadonna, Patrizia, Zanotti, Roberta, Tanasi, Ilaria, Mattsson, Mattias, Hagglund, Hans, Triggiani, Massimo, Yavuz, Akif Selim, Panse, Jens, Christen, Deborah, Heizmann, Marc, Shoumariyeh, Khalid, Müller, Sabine, Elena, Chiara, Malcovati, Luca, Fiorelli, Nicolas, Wortmann, Friederike, Vucinic, Vladan, Brockow, Knut, Fokoloros, Christos, Papageorgiou, Sotirios G., Breynaert, Christine, Bullens, Dominique, Doubek, Michael, Ilerhaus, Anja, Angelova-Fischer, Irena, Solomianyi, Oleksii, Várkonyi, Judit, Sabato, Vito, Rüfer, Axel, Schug, Tanja Daniela, Hermans, Maud A. W., Fortina, Anna Belloni, Caroppo, Francesca, Bumbea, Horia, Gulen, Theo, Hartmann, Karin, Elberink, Hanneke Oude, Schwaab, Juliana, Arock, Michel, Valent, Peter, Sperr, Wolfgang R., Gotlib, Jason
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 09-05-2023 The American Society of Hematology
Subjects:	Abnormal Karyotype Humans Leukemia, Mast-Cell - diagnosis Leukemia, Mast-Cell - genetics Mast Cells Mastocytosis Mastocytosis, Systemic - diagnosis Mastocytosis, Systemic - drug therapy Mastocytosis, Systemic - genetics Medicin och hälsovetenskap Myeloid Neoplasia
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Summary:	•The median OS of patients with MCL was 1.6 years; a diagnosis of MCL-AHN and an abnormal karyotype were each associated with inferior outcomes.•Midostaurin was the most commonly used agent in MCL and was associated with improved OS in a multivariate analysis. [Display omitted] 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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	2473-9529 2473-9537 2473-9537
DOI:	10.1182/bloodadvances.2022008292