Characterization of patients with clonal mast cells in the bone marrow with clinical significance not otherwise specified

Systemic mastocytosis (SM) diagnosis requires the presence of 3 minor criteria or 1 major and 1 minor criterion according to the WHO 2016 classification. The aim of this study was to characterize patients with 1 or 2 minor SM criteria including KIT 816 mutation and/or aberrant expression of CD2 and/...

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Published inEClinicalMedicine Vol. 80; p. 103043
Main Authors Ballul, Thomas, Sabato, Vito, Valent, Peter, Hermine, Olivier, Lortholary, Olivier, Rossignol, Julien, Livideanu, Cristina Bulai, Neuraz, Antoine, Agopian, Julie, Brenet, Fabienne, Dubreuil, Patrice, Ebo, Didier G., Beyens, Michiel, Lemal, Richard, Tournilhac, Olivier, Terriou, Louis, Launay, David, Bouillet, Laurence, Chatain, Catharina, Gourguechon, Clément, Damaj, Gandhi, Durupt, Stéphane, Greco, Celine, Frenzel, Laurent, Bodemer-Skandalis, Christine, Polivka, Laura, Madrange, Marine, Meni, Cécile, Bouktit, Hassiba, Bellais, Anne Florence, Durand, Jean-Marc, Gousseff, Marie, Le Mouel, Edwige, Hamidou, Mohamed, Neel, Antoine, Ranta, Dana, Niault, Mathilde, Schiffmann, Aurélie, Barete, Stéphane, Arock, Michel, Canioni, Danielle, Molina, Thierry Jo, Bruneau, Julie, Vaes, Mélanie, Havelange, Violaine, Faour, Hassan, Garcelon, Nicolas, Javier, Rose-Marie, Pelletier, Fabien, Castelain, Florence, Vincent, Denis, Retornaz, Frédérique, Cabrera, Quentin, Zunic, Patricia, Guilpain, Philippe, Gourin, Marie Pierre, Wierzbicka–Hainaut, Ewa, Viallard, Jean François, Lavigne, Christian, Hoarau, Cyrille, Lhermitte, Ludovic, Heiblig, Maël, Jaussaud, Roland
Format Journal Article
LanguageEnglish
Published England Elsevier Ltd 01.02.2025
Elsevier
Subjects
Anaphylaxis
Internal Medicine
KIT D816V
Life Sciences
Mast cells
Mastocytosis
Osteoporosis
Mastocytosis
Osteoporosis
KIT D816V
Mast cells
Anaphylaxis
Online AccessGet full text
ISSN2589-5370
2589-5370
DOI10.1016/j.eclinm.2024.103043

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Abstract Systemic mastocytosis (SM) diagnosis requires the presence of 3 minor criteria or 1 major and 1 minor criterion according to the WHO 2016 classification. The aim of this study was to characterize patients with 1 or 2 minor SM criteria including KIT 816 mutation and/or aberrant expression of CD2 and/or CD25 on bone marrow (BM) mast cells (MCs), but without MC activation syndrome (MCAS) criteria. We included eligible patients from two countries diagnosed between 2011 and 2021. These patients are reported herein as monoclonal MC with clinical significance (MMCS). MMCS patients were compared with 432 patients with indolent SM (ISM) and 51 with BM mastocytosis (BMM) from the CEREMAST database. Overall, 51 patients with MMCS were included. MMCS patients with (n = 29) or without (n = 22) KIT 816 mutation did not differ significantly with regard to the prevalence of anaphylaxis and basal tryptase level. Anaphylaxis, often in the context of hymenoptera venom allergy, was more frequent in MMCS than in ISM (78% vs 35%, respectively; p < 0.001). Osteoporosis was similarly prevalent in MMCS and BMM (45% vs 32%, p = ns). The median baseline serum tryptase level was lower in MMCS compared with ISM or BMM (13 vs 26 vs 23 ng/mL, respectively; p < 0.001). Hereditary alpha-tryptasemia was similarly represented in MMCS and BMM (14.3% vs 19.7% respectively, p = ns). Clonal BMMCs may be associated with clinically relevant symptoms even if criteria for SM or MCAS are not fulfilled. These MMCS patients may require specific management and follow-up to capture potential transition to SM and/or MCAS. None.
AbstractList Systemic mastocytosis (SM) diagnosis requires the presence of 3 minor criteria or 1 major and 1 minor criterion according to the WHO 2016 classification. The aim of this study was to characterize patients with 1 or 2 minor SM criteria including KIT 816 mutation and/or aberrant expression of CD2 and/or CD25 on bone marrow (BM) mast cells (MCs), but without MC activation syndrome (MCAS) criteria.BackgroundSystemic mastocytosis (SM) diagnosis requires the presence of 3 minor criteria or 1 major and 1 minor criterion according to the WHO 2016 classification. The aim of this study was to characterize patients with 1 or 2 minor SM criteria including KIT 816 mutation and/or aberrant expression of CD2 and/or CD25 on bone marrow (BM) mast cells (MCs), but without MC activation syndrome (MCAS) criteria.We included eligible patients from two countries diagnosed between 2011 and 2021. These patients are reported herein as monoclonal MC with clinical significance (MMCS). MMCS patients were compared with 432 patients with indolent SM (ISM) and 51 with BM mastocytosis (BMM) from the CEREMAST database.MethodsWe included eligible patients from two countries diagnosed between 2011 and 2021. These patients are reported herein as monoclonal MC with clinical significance (MMCS). MMCS patients were compared with 432 patients with indolent SM (ISM) and 51 with BM mastocytosis (BMM) from the CEREMAST database.Overall, 51 patients with MMCS were included. MMCS patients with (n = 29) or without (n = 22) KIT 816 mutation did not differ significantly with regard to the prevalence of anaphylaxis and basal tryptase level. Anaphylaxis, often in the context of hymenoptera venom allergy, was more frequent in MMCS than in ISM (78% vs 35%, respectively; p < 0.001). Osteoporosis was similarly prevalent in MMCS and BMM (45% vs 32%, p = ns). The median baseline serum tryptase level was lower in MMCS compared with ISM or BMM (13 vs 26 vs 23 ng/mL, respectively; p < 0.001). Hereditary alpha-tryptasemia was similarly represented in MMCS and BMM (14.3% vs 19.7% respectively, p = ns).FindingsOverall, 51 patients with MMCS were included. MMCS patients with (n = 29) or without (n = 22) KIT 816 mutation did not differ significantly with regard to the prevalence of anaphylaxis and basal tryptase level. Anaphylaxis, often in the context of hymenoptera venom allergy, was more frequent in MMCS than in ISM (78% vs 35%, respectively; p < 0.001). Osteoporosis was similarly prevalent in MMCS and BMM (45% vs 32%, p = ns). The median baseline serum tryptase level was lower in MMCS compared with ISM or BMM (13 vs 26 vs 23 ng/mL, respectively; p < 0.001). Hereditary alpha-tryptasemia was similarly represented in MMCS and BMM (14.3% vs 19.7% respectively, p = ns).Clonal BMMCs may be associated with clinically relevant symptoms even if criteria for SM or MCAS are not fulfilled. These MMCS patients may require specific management and follow-up to capture potential transition to SM and/or MCAS.InterpretationClonal BMMCs may be associated with clinically relevant symptoms even if criteria for SM or MCAS are not fulfilled. These MMCS patients may require specific management and follow-up to capture potential transition to SM and/or MCAS.None.FundingNone.
Systemic mastocytosis (SM) diagnosis requires the presence of 3 minor criteria or 1 major and 1 minor criterion according to the WHO 2016 classification. The aim of this study was to characterize patients with 1 or 2 minor SM criteria including KIT 816 mutation and/or aberrant expression of CD2 and/or CD25 on bone marrow (BM) mast cells (MCs), but without MC activation syndrome (MCAS) criteria. We included eligible patients from two countries diagnosed between 2011 and 2021. These patients are reported herein as monoclonal MC with clinical significance (MMCS). MMCS patients were compared with 432 patients with indolent SM (ISM) and 51 with BM mastocytosis (BMM) from the CEREMAST database. Overall, 51 patients with MMCS were included. MMCS patients with (n = 29) or without (n = 22) KIT 816 mutation did not differ significantly with regard to the prevalence of anaphylaxis and basal tryptase level. Anaphylaxis, often in the context of hymenoptera venom allergy, was more frequent in MMCS than in ISM (78% vs 35%, respectively; p < 0.001). Osteoporosis was similarly prevalent in MMCS and BMM (45% vs 32%, p = ns). The median baseline serum tryptase level was lower in MMCS compared with ISM or BMM (13 vs 26 vs 23 ng/mL, respectively; p < 0.001). Hereditary alpha-tryptasemia was similarly represented in MMCS and BMM (14.3% vs 19.7% respectively, p = ns). Clonal BMMCs may be associated with clinically relevant symptoms even if criteria for SM or MCAS are not fulfilled. These MMCS patients may require specific management and follow-up to capture potential transition to SM and/or MCAS. None.
Systemic mastocytosis (SM) diagnosis requires the presence of 3 minor criteria or 1 major and 1 minor criterion according to the WHO 2016 classification. The aim of this study was to characterize patients with 1 or 2 minor SM criteria including mutation and/or aberrant expression of CD2 and/or CD25 on bone marrow (BM) mast cells (MCs), but without MC activation syndrome (MCAS) criteria. We included eligible patients from two countries diagnosed between 2011 and 2021. These patients are reported herein as monoclonal MC with clinical significance (MMCS). MMCS patients were compared with 432 patients with indolent SM (ISM) and 51 with BM mastocytosis (BMM) from the CEREMAST database. Overall, 51 patients with MMCS were included. MMCS patients with (n = 29) or without (n = 22) 816 mutation did not differ significantly with regard to the prevalence of anaphylaxis and basal tryptase level. Anaphylaxis, often in the context of hymenoptera venom allergy, was more frequent in MMCS than in ISM (78% vs 35%, respectively; p < 0.001). Osteoporosis was similarly prevalent in MMCS and BMM (45% vs 32%, p = ns). The median baseline serum tryptase level was lower in MMCS compared with ISM or BMM (13 vs 26 vs 23 ng/mL, respectively; p < 0.001). Hereditary alpha-tryptasemia was similarly represented in MMCS and BMM (14.3% vs 19.7% respectively, p = ns). Clonal BMMCs may be associated with clinically relevant symptoms even if criteria for SM or MCAS are not fulfilled. These MMCS patients may require specific management and follow-up to capture potential transition to SM and/or MCAS. None.
SummaryBackgroundSystemic mastocytosis (SM) diagnosis requires the presence of 3 minor criteria or 1 major and 1 minor criterion according to the WHO 2016 classification. The aim of this study was to characterize patients with 1 or 2 minor SM criteria including KIT 816 mutation and/or aberrant expression of CD2 and/or CD25 on bone marrow (BM) mast cells (MCs), but without MC activation syndrome (MCAS) criteria. MethodsWe included eligible patients from two countries diagnosed between 2011 and 2021. These patients are reported herein as monoclonal MC with clinical significance (MMCS). MMCS patients were compared with 432 patients with indolent SM (ISM) and 51 with BM mastocytosis (BMM) from the CEREMAST database. FindingsOverall, 51 patients with MMCS were included. MMCS patients with (n = 29) or without (n = 22) KIT 816 mutation did not differ significantly with regard to the prevalence of anaphylaxis and basal tryptase level. Anaphylaxis, often in the context of hymenoptera venom allergy, was more frequent in MMCS than in ISM (78% vs 35%, respectively; p < 0.001). Osteoporosis was similarly prevalent in MMCS and BMM (45% vs 32%, p = ns). The median baseline serum tryptase level was lower in MMCS compared with ISM or BMM (13 vs 26 vs 23 ng/mL, respectively; p < 0.001). Hereditary alpha-tryptasemia was similarly represented in MMCS and BMM (14.3% vs 19.7% respectively, p = ns). InterpretationClonal BMMCs may be associated with clinically relevant symptoms even if criteria for SM or MCAS are not fulfilled. These MMCS patients may require specific management and follow-up to capture potential transition to SM and/or MCAS. FundingNone.
ArticleNumber 103043
Author Neel, Antoine
Ranta, Dana
Viallard, Jean François
Hermine, Olivier
Valent, Peter
Lortholary, Olivier
Faour, Hassan
Gourin, Marie Pierre
Livideanu, Cristina Bulai
Gourguechon, Clément
Durand, Jean-Marc
Rossignol, Julien
Castelain, Florence
Barete, Stéphane
Le Mouel, Edwige
Wierzbicka–Hainaut, Ewa
Jaussaud, Roland
Ebo, Didier G.
Bouktit, Hassiba
Beyens, Michiel
Tournilhac, Olivier
Niault, Mathilde
Retornaz, Frédérique
Pelletier, Fabien
Molina, Thierry Jo
Neuraz, Antoine
Greco, Celine
Vaes, Mélanie
Sabato, Vito
Havelange, Violaine
Arock, Michel
Launay, David
Hamidou, Mohamed
Bodemer-Skandalis, Christine
Zunic, Patricia
Hoarau, Cyrille
Gousseff, Marie
Meni, Cécile
Chatain, Catharina
Bruneau, Julie
Dubreuil, Patrice
Polivka, Laura
Bellais, Anne Florence
Schiffmann, Aurélie
Garcelon, Nicolas
Damaj, Gandhi
Vincent, Denis
Frenzel, Laurent
Lavigne, Christian
Lemal, Richard
Canioni, Danielle
Heiblig, Maël
Madrange, Marine
Cabrera, Quentin
Agopian, Julie
Javier, Rose-Marie
Terriou, Louis
Bouillet, Laurence
Brenet, Fabienne
Guilpain, Philippe
Ballul, Thoma
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ContentType Journal Article
Contributor Neel, Antoine
Ranta, Dana
Wierzbicka-Hainaut, Ewa
Viallard, Jean François
Hermine, Olivier
Valent, Peter
Lortholary, Olivier
Faour, Hassan
Gourin, Marie Pierre
Livideanu, Cristina Bulai
Gourguechon, Clément
Durand, Jean-Marc
Castelain, Florence
Rossignol, Julien
Barete, Stéphane
Le Mouel, Edwige
Jaussaud, Roland
Bouktit, Hassiba
Beyens, Michiel
Tournilhac, Olivier
Niault, Mathilde
Retornaz, Frédérique
Pelletier, Fabien
Molina, Thierry Jo
Neuraz, Antoine
Greco, Celine
Vaes, Mélanie
Sabato, Vito
Havelange, Violaine
Arock, Michel
Launay, David
Ebo, Didier G
Hamidou, Mohamed
Bodemer-Skandalis, Christine
Zunic, Patricia
Hoarau, Cyrille
Gousseff, Marie
Meni, Cécile
Chatain, Catharina
Bruneau, Julie
Dubreuil, Patrice
Polivka, Laura
Bellais, Anne Florence
Schiffmann, Aurélie
Garcelon, Nicolas
Damaj, Gandhi
Vincent, Denis
Frenzel, Laurent
Lavigne, Christian
Lemal, Richard
Canioni, Danielle
Heiblig, Maël
Madrange, Marine
Cabrera, Quentin
Agopian, Julie
Javier, Rose-Marie
Terriou, Louis
Bouillet, Laurence
Brenet, Fabienne
Guilpain, Philippe
Ballul, Thomas
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Keywords Mastocytosis
Osteoporosis
KIT D816V
Mast cells
Anaphylaxis
Language English
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2024 The Author(s).
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Snippet Systemic mastocytosis (SM) diagnosis requires the presence of 3 minor criteria or 1 major and 1 minor criterion according to the WHO 2016 classification. The...
SummaryBackgroundSystemic mastocytosis (SM) diagnosis requires the presence of 3 minor criteria or 1 major and 1 minor criterion according to the WHO 2016...
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SubjectTerms Anaphylaxis
Internal Medicine
KIT D816V
Life Sciences
Mast cells
Mastocytosis
Osteoporosis
Title Characterization of patients with clonal mast cells in the bone marrow with clinical significance not otherwise specified
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