RT Journal Article
A1 Kennedy, Vanessa E.
A1 Perkins, Cecelia
A1 Reiter, Andreas
A1 Jawhar, Mohamad
A1 Lübke, Johannes
A1 Kluin-Nelemans, Hanneke C.
A1 Shomali, William
A1 Langford, Cheryl
A1 Abuel, Justin
A1 Hermine, Olivier
A1 Niedoszytko, Marek
A1 Gorska, Aleksandra
A1 Mital, Andrzej
A1 Bonadonna, Patrizia
A1 Zanotti, Roberta
A1 Tanasi, Ilaria
A1 Mattsson, Mattias
A1 Hagglund, Hans
A1 Triggiani, Massimo
A1 Yavuz, Akif Selim
A1 Panse, Jens
A1 Christen, Deborah
A1 Heizmann, Marc
A1 Shoumariyeh, Khalid
A1 Müller, Sabine
A1 Elena, Chiara
A1 Malcovati, Luca
A1 Fiorelli, Nicolas
A1 Wortmann, Friederike
A1 Vucinic, Vladan
A1 Brockow, Knut
A1 Fokoloros, Christos
A1 Papageorgiou, Sotirios G.
A1 Breynaert, Christine
A1 Bullens, Dominique
A1 Doubek, Michael
A1 Ilerhaus, Anja
A1 Angelova-Fischer, Irena
A1 Solomianyi, Oleksii
A1 Várkonyi, Judit
A1 Sabato, Vito
A1 Rüfer, Axel
A1 Schug, Tanja Daniela
A1 Hermans, Maud A. W.
A1 Fortina, Anna Belloni
A1 Caroppo, Francesca
A1 Bumbea, Horia
A1 Gulen, Theo
A1 Hartmann, Karin
A1 Elberink, Hanneke Oude
A1 Schwaab, Juliana
A1 Arock, Michel
A1 Valent, Peter
A1 Sperr, Wolfgang R.
A1 Gotlib, Jason
T1 Mast cell leukemia: clinical and molecular features and survival outcomes of patients in the ECNM Registry
JF Blood Advances
JO Blood Adv
YR 2023
DO 10.1182/bloodadvances.2022008292
VO 7
IS 9
SP 1713
OP 1724
SN 2473-9529
AB 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.
RD 11/15/2025
UL https://doi.org/10.1182/bloodadvances.2022008292