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

J 2023

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

KENNEDY, Vanessa E, Cecelia PERKINS, Andreas REITER, Mohamad JAWHAR, Johannes LUEBKE et. al.

Basic information

Original name

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

Authors

KENNEDY, Vanessa E, Cecelia PERKINS, Andreas REITER, Mohamad JAWHAR, Johannes LUEBKE, 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 MUELLER, Chiara ELENA, Luca MALCOVATI, Nicolas FIORELLI, Friederike WORTMANN, Vladan VUCINIC, Knut BROCKOW, Christos FOKOLOROS, Sotirios G PAPAGEORGIOU, Christine BREYNAERT, Dominique BULLENS, Michael DOUBEK (203 Czech Republic, belonging to the institution), Anja ILERHAUS, Irena ANGELOVA-FISCHER, Oleksii SOLOMIANYI, Judit VARKONYI, Vito SABATO, Axel RUEFER, 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

Edition

Blood advances, AMSTERDAM, ELSEVIER, 2023, 2473-9529

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30205 Hematology

Country of publisher

Netherlands

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 7.500 in 2022

RIV identification code

RIV/00216224:14110/23:00131384

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1182/bloodadvances.2022008292

UT WoS

000999263900001

Keywords in English

Mast cell leukemia

Abstract

V originále

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.

Citovat

KENNEDY, Vanessa E, Cecelia PERKINS, Andreas REITER, Mohamad JAWHAR, Johannes LUEBKE, 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 MUELLER, 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 VARKONYI, Vito SABATO, Axel RUEFER, 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. Mast cell leukemia: clinical and molecular features and survival outcomes of patients in the ECNM Registry. Blood advances. AMSTERDAM: ELSEVIER, 2023, vol. 7, No 9, p. 1713-1724. ISSN 2473-9529. Available from: https://dx.doi.org/10.1182/bloodadvances.2022008292.

@article{2301603,
   author = {Kennedy, Vanessa E and Perkins, Cecelia and Reiter, Andreas and Jawhar, Mohamad and Luebke, Johannes and KluinandNelemans, Hanneke C and Shomali, William and Langford, Cheryl and Abuel, Justin and Hermine, Olivier and Niedoszytko, Marek and Gorska, Aleksandra and Mital, Andrzej and Bonadonna, Patrizia and Zanotti, Roberta and Tanasi, Ilaria and Mattsson, Mattias and Hagglund, Hans and Triggiani, Massimo and Yavuz, Akif Selim and Panse, Jens and Christen, Deborah and Heizmann, Marc and Shoumariyeh, Khalid and Mueller, Sabine and Elena, Chiara and Malcovati, Luca and Fiorelli, Nicolas and Wortmann, Friederike and Vucinic, Vladan and Brockow, Knut and Fokoloros, Christos and Papageorgiou, Sotirios G and Breynaert, Christine and Bullens, Dominique and Doubek, Michael and Ilerhaus, Anja and AngelovaandFischer, Irena and Solomianyi, Oleksii and Varkonyi, Judit and Sabato, Vito and Ruefer, Axel and Schug, Tanja Daniela and Hermans, Maud A W and Fortina, Anna Belloni and Caroppo, Francesca and Bumbea, Horia and Gulen, Theo and Hartmann, Karin and Elberink, Hanneke Oude and Schwaab, Juliana and Arock, Michel and Valent, Peter and Sperr, Wolfgang R and Gotlib, Jason},
   article_location = {AMSTERDAM},
   article_number = {9},
   doi = {http://dx.doi.org/10.1182/bloodadvances.2022008292},
   keywords = {Mast cell leukemia},
   language = {eng},
   issn = {2473-9529},
   journal = {Blood advances},
   title = {Mast cell leukemia: clinical and molecular features and survival outcomes of patients in the ECNM Registry},
   url = {https://ashpublications.org/bloodadvances/article/7/9/1713/486570/Mast-cell-leukemia-clinical-and-molecular-features},
   volume = {7},
   year = {2023}
}

TY  - JOUR
ID  - 2301603
AU  - Kennedy, Vanessa E - Perkins, Cecelia - Reiter, Andreas - Jawhar, Mohamad - Luebke, 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 - Mueller, 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 - Varkonyi, Judit - Sabato, Vito - Ruefer, 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
PY  - 2023
TI  - Mast cell leukemia: clinical and molecular features and survival outcomes of patients in the ECNM Registry
JF  - Blood advances
VL  - 7
IS  - 9
SP  - 1713-1724
EP  - 1713-1724
PB  - ELSEVIER
SN  - 24739529
KW  - Mast cell leukemia
UR  - https://ashpublications.org/bloodadvances/article/7/9/1713/486570/Mast-cell-leukemia-clinical-and-molecular-features
N2  - 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.
ER  -

KENNEDY, Vanessa E, Cecelia PERKINS, Andreas REITER, Mohamad JAWHAR, Johannes LUEBKE, 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 MUELLER, 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 VARKONYI, Vito SABATO, Axel RUEFER, 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. Mast cell leukemia: clinical and molecular features and survival outcomes of patients in the ECNM Registry. \textit{Blood advances}. AMSTERDAM: ELSEVIER, 2023, vol.~7, No~9, p.~1713-1724. ISSN~2473-9529. Available from: https://dx.doi.org/10.1182/bloodadvances.2022008292.

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