Characterization of patients with clonal mast cells in the bone marrow with clinical significance not otherwise specifiedResearch in context
Summary: Background: 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...
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Elsevier
2025-02-01
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| Series: | EClinicalMedicine |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2589537024006229 |
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| author | Thomas Ballul Vito Sabato Peter Valent Olivier Hermine Olivier Lortholary Julien Rossignol Thomas Ballul Vito Sabato Cristina Bulai Livideanu Antoine Neuraz Julie Agopian Fabienne Brenet Patrice Dubreuil Didier G. Ebo Michiel Beyens Richard Lemal Olivier Tournilhac Louis Terriou David Launay Laurence Bouillet Catharina Chatain Clément Gourguechon Gandhi Damaj Stéphane Durupt Celine Greco Laurent Frenzel Christine Bodemer-Skandalis Laura Polivka Marine Madrange Cécile Meni Hassiba Bouktit Anne Florence Bellais Jean-Marc Durand Marie Gousseff Edwige Le Mouel Mohamed Hamidou Antoine Neel Dana Ranta Mathilde Niault Aurélie Schiffmann Stéphane Barete Michel Arock Danielle Canioni Thierry Jo Molina Julie Bruneau Mélanie Vaes Violaine Havelange Hassan Faour Nicolas Garcelon Rose-Marie Javier Fabien Pelletier Florence Castelain Denis Vincent Frédérique Retornaz Quentin Cabrera Patricia Zunic Philippe Guilpain Marie Pierre Gourin Ewa Wierzbicka–Hainaut Jean François Viallard Christian Lavigne Cyrille Hoarau Ludovic Lhermitte Maël Heiblig Roland Jaussaud Peter Valent Olivier Hermine Olivier Lortholary Julien Rossignol |
| author_facet | Thomas Ballul Vito Sabato Peter Valent Olivier Hermine Olivier Lortholary Julien Rossignol Thomas Ballul Vito Sabato Cristina Bulai Livideanu Antoine Neuraz Julie Agopian Fabienne Brenet Patrice Dubreuil Didier G. Ebo Michiel Beyens Richard Lemal Olivier Tournilhac Louis Terriou David Launay Laurence Bouillet Catharina Chatain Clément Gourguechon Gandhi Damaj Stéphane Durupt Celine Greco Laurent Frenzel Christine Bodemer-Skandalis Laura Polivka Marine Madrange Cécile Meni Hassiba Bouktit Anne Florence Bellais Jean-Marc Durand Marie Gousseff Edwige Le Mouel Mohamed Hamidou Antoine Neel Dana Ranta Mathilde Niault Aurélie Schiffmann Stéphane Barete Michel Arock Danielle Canioni Thierry Jo Molina Julie Bruneau Mélanie Vaes Violaine Havelange Hassan Faour Nicolas Garcelon Rose-Marie Javier Fabien Pelletier Florence Castelain Denis Vincent Frédérique Retornaz Quentin Cabrera Patricia Zunic Philippe Guilpain Marie Pierre Gourin Ewa Wierzbicka–Hainaut Jean François Viallard Christian Lavigne Cyrille Hoarau Ludovic Lhermitte Maël Heiblig Roland Jaussaud Peter Valent Olivier Hermine Olivier Lortholary Julien Rossignol |
| author_sort | Thomas Ballul |
| collection | DOAJ |
| description | Summary: Background: 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. Methods: 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. Findings: 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). Interpretation: 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. Funding: None. |
| format | Article |
| id | doaj-art-ccfb41f5377a44c18c775d58f0bb4c0a |
| institution | Kabale University |
| issn | 2589-5370 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | EClinicalMedicine |
| spelling | doaj-art-ccfb41f5377a44c18c775d58f0bb4c0a2025-01-11T06:41:50ZengElsevierEClinicalMedicine2589-53702025-02-0180103043Characterization of patients with clonal mast cells in the bone marrow with clinical significance not otherwise specifiedResearch in contextThomas Ballul0Vito Sabato1Peter Valent2Olivier Hermine3Olivier Lortholary4Julien Rossignol5Thomas BallulVito SabatoCristina Bulai LivideanuAntoine NeurazJulie AgopianFabienne BrenetPatrice DubreuilDidier G. EboMichiel BeyensRichard LemalOlivier TournilhacLouis TerriouDavid LaunayLaurence BouilletCatharina ChatainClément GourguechonGandhi DamajStéphane DuruptCeline GrecoLaurent FrenzelChristine Bodemer-SkandalisLaura PolivkaMarine MadrangeCécile MeniHassiba BouktitAnne Florence BellaisJean-Marc DurandMarie GousseffEdwige Le MouelMohamed HamidouAntoine NeelDana RantaMathilde NiaultAurélie SchiffmannStéphane BareteMichel ArockDanielle CanioniThierry Jo MolinaJulie BruneauMélanie VaesViolaine HavelangeHassan FaourNicolas GarcelonRose-Marie JavierFabien PelletierFlorence CastelainDenis VincentFrédérique RetornazQuentin CabreraPatricia ZunicPhilippe GuilpainMarie Pierre GourinEwa Wierzbicka–HainautJean François ViallardChristian LavigneCyrille HoarauLudovic LhermitteMaël HeibligRoland JaussaudPeter ValentOlivier HermineOlivier LortholaryJulien RossignolFrench Reference Center for Mastocytosis (CEREMAST), Paris Cité University, Necker – Enfants Malades University Hospital, APHP, Paris, FranceDepartment of Immunology Allergology and Rheumatology University of Antwerp and Antwerp University Hospital, Antwerp, BelgiumDivision of Hematology and Hemostaseology, Department of Internal Medicine I, Medical University of Vienna, Austria; Ludwig Boltzmann Institute for Hematology and Oncology, Medical University of Vienna, AustriaFrench Reference Center for Mastocytosis (CEREMAST), Paris Cité University, Necker – Enfants Malades University Hospital, APHP, Paris, France; Corresponding author.French Reference Center for Mastocytosis (CEREMAST), Paris Cité University, Necker – Enfants Malades University Hospital, APHP, Paris, France; Corresponding author.French Reference Center for Mastocytosis (CEREMAST), Paris Cité University, Necker – Enfants Malades University Hospital, APHP, Paris, FranceSummary: Background: 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. Methods: 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. Findings: 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). Interpretation: 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. Funding: None.http://www.sciencedirect.com/science/article/pii/S2589537024006229MastocytosisAnaphylaxisOsteoporosisKIT D816VMast cells |
| spellingShingle | Thomas Ballul Vito Sabato Peter Valent Olivier Hermine Olivier Lortholary Julien Rossignol Thomas Ballul Vito Sabato Cristina Bulai Livideanu Antoine Neuraz Julie Agopian Fabienne Brenet Patrice Dubreuil Didier G. Ebo Michiel Beyens Richard Lemal Olivier Tournilhac Louis Terriou David Launay Laurence Bouillet Catharina Chatain Clément Gourguechon Gandhi Damaj Stéphane Durupt Celine Greco Laurent Frenzel Christine Bodemer-Skandalis Laura Polivka Marine Madrange Cécile Meni Hassiba Bouktit Anne Florence Bellais Jean-Marc Durand Marie Gousseff Edwige Le Mouel Mohamed Hamidou Antoine Neel Dana Ranta Mathilde Niault Aurélie Schiffmann Stéphane Barete Michel Arock Danielle Canioni Thierry Jo Molina Julie Bruneau Mélanie Vaes Violaine Havelange Hassan Faour Nicolas Garcelon Rose-Marie Javier Fabien Pelletier Florence Castelain Denis Vincent Frédérique Retornaz Quentin Cabrera Patricia Zunic Philippe Guilpain Marie Pierre Gourin Ewa Wierzbicka–Hainaut Jean François Viallard Christian Lavigne Cyrille Hoarau Ludovic Lhermitte Maël Heiblig Roland Jaussaud Peter Valent Olivier Hermine Olivier Lortholary Julien Rossignol Characterization of patients with clonal mast cells in the bone marrow with clinical significance not otherwise specifiedResearch in context EClinicalMedicine Mastocytosis Anaphylaxis Osteoporosis KIT D816V Mast cells |
| title | Characterization of patients with clonal mast cells in the bone marrow with clinical significance not otherwise specifiedResearch in context |
| title_full | Characterization of patients with clonal mast cells in the bone marrow with clinical significance not otherwise specifiedResearch in context |
| title_fullStr | Characterization of patients with clonal mast cells in the bone marrow with clinical significance not otherwise specifiedResearch in context |
| title_full_unstemmed | Characterization of patients with clonal mast cells in the bone marrow with clinical significance not otherwise specifiedResearch in context |
| title_short | Characterization of patients with clonal mast cells in the bone marrow with clinical significance not otherwise specifiedResearch in context |
| title_sort | characterization of patients with clonal mast cells in the bone marrow with clinical significance not otherwise specifiedresearch in context |
| topic | Mastocytosis Anaphylaxis Osteoporosis KIT D816V Mast cells |
| url | http://www.sciencedirect.com/science/article/pii/S2589537024006229 |
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