= 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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Mast cell leukemia: clinical and molecular features and survival outcomes of patients in the ECNM Registry
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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 Česká republika, domácí), 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 a Jason GOTLIB
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.
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 a Jason GOTLIB. Mast cell leukemia: clinical and molecular features and survival outcomes of patients in the ECNM Registry. Blood advances. AMSTERDAM: ELSEVIER, 2023, roč. 7, č. 9, s. 1713-1724. ISSN 2473-9529. Dostupné z: 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 a Jason GOTLIB. Mast cell leukemia: clinical and molecular features and survival outcomes of patients in the ECNM Registry. \textit{Blood advances}. AMSTERDAM: ELSEVIER, 2023, roč.~7, č.~9, s.~1713-1724. ISSN~2473-9529. Dostupné z: https://dx.doi.org/10.1182/bloodadvances.2022008292.