<i>KIT</i>D816V mutation in blood for the diagnostic screening of systemic mastocytosis and mast cell activation syndromes

Navarro-Navarro, Paula; Álvarez‐Twose, Iván; Pérez-Pons, Alba; Henriques, Ana; Órfão, Alberto; García‐Montero, Andrés C.; Sánchez‐Muñoz, Laura; González‐López, Oscar; Matito, Almudena; Caldas, Carolina; Jara‐Acevedo, María; Órfão, Alberto

doi:10.1111/all.15584

Cited by 17 publications

(9 citation statements)

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“…67 Besides, detection of the KIT D816V mutation in hematopoietic cell compartments other than MC (multilineage involvement) has been associated with higher rate of progression from ISM to AdvSM and a worse outcome. 70,71 In line with this data, a value greater than 6% of circulating KIT D816V1 cells has been proposed as being suggestive of a multilineage involvement in patients. 68 Thus, the KIT D816V mutation burden seems to be a reliable and reproducible prognostic marker of SM, 5,67,72 now incorporated into prognostic scoring systems, such as the REMA score.…”

Section: Quantification Of the Kit D816v Mutational Burden For Progno...mentioning

confidence: 69%

KIT Mutations and Other Genetic Defects in Mastocytosis

Chantran

Valent

Arock

2023

Immunology and Allergy Clinics of North America

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Section: Quantification Of the Kit D816v Mutational Burden For Progno...mentioning

confidence: 69%

KIT Mutations and Other Genetic Defects in Mastocytosis

Chantran

Valent

Arock

2023

Immunology and Allergy Clinics of North America

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“…Although the association between cMCD and severe HVA has been known for years, recent studies employing peripheral blood KIT p.D816V screening have only highlighted the true extent of this clinical association and further revealed that cMCD is often present in patients with normal BST levels [11,12,[26][27][28]. A recent study confirmed a high correlation between blood and bone marrow KIT p.D816V allele burden, demonstrating that the presence of KIT p.D816V in peripheral blood, which is a minor criterion for an SM diagnosis, was highly specific for cMCD, mostly (indolent) systemic mastocytosis ((I)SM), bone marrow mastocytosis (BMM) or monoclonal mast cell activation syndrome (c-MCAS) [29]. cMCD is a rare, largely underrecognized disease because it often reveals itself as secondary to another condition, typically anaphylaxis [13,17].…”

Section: Discussionmentioning

confidence: 93%

Fatal Hymenoptera Venom–Triggered Anaphylaxis in Patients with Unrecognized Clonal Mast Cell Disorder—Is Mastocytosis to Blame?

Rijavec,

Inkret,

Bidovec-Stojković

et al. 2023

IJMS

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Hymenoptera venom–triggered anaphylaxis (HVA) affects up to 8.9% of the general population and is the most frequent cause of anaphylaxis in adults, accounting for approximately 20% of all fatal anaphylaxis cases. Quite often, a fatal reaction is a victim’s first manifestation of HVA. Mastocytosis represents one of the most important risk factors for severe HVA. We analyzed patients with documented fatal HVA for the presence of underlying clonal mast cell disorder (cMCD). Here, we report three cases of fatal HVA, with undiagnosed underlying cMCD identified by the presence of the peripheral blood and/or bone marrow KIT p.D816V missense variant postmortem. In the first case, anaphylaxis was the initial episode and was fatal. In the other two cases, both patients were treated with specific venom immunotherapy (VIT), nevertheless, one died of HVA after VIT discontinuation, and the other during VIT; both patients had cardiovascular comorbidities and were taking beta-blockers and/or ACE inhibitors. Our results point to the importance of screening all high-risk individuals for underlying cMCD using highly sensitive molecular methods for peripheral blood KIT p.D816V variant detection, including severe HVA and possibly beekeepers, for proper management and the need for lifelong VIT to prevent unnecessary deaths. Patients at the highest risk of fatal HVA, with concomitant cardiovascular and cMCD comorbidities, might not be protected from field stings even during regular VIT. Therefore, two adrenaline autoinjectors and lifelong VIT, and possibly cotreatment with omalizumab, should be considered for high-risk patients to prevent fatal HVA episodes.

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“…• Mastocitosis cutánea (CM): se caracteriza por la presencia de lesiones localizadas o diseminadas, marrones o rojas y con signo de Darier positivo (enrojecimiento al aplicar presión en una lesión), por la liberación de mediadores mastocitarios. (28) Subclasificación:…”

Section: Clasificaciónunclassified

Diagnostic biomarkers in mastocytosis

Núñez Reyes,

Proaño Pérez

2024

Salud, Ciencia y Tecnología

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Introducción: la mastocitosis es una enfermedad rara, desencadenada por la mutación KIT D816V que aumenta la proliferación y supervivencia de los mastocitos en varios órganos. Los mastocitos tienen receptores importantes como: KIT, TLR, de complemento (C5aR, C3aR), MHCI, MHCII, MRGPRX y FcεRI que les permiten activarse y degranular en las respuestas de la inmunidad innata y adaptativa. La prevalencia de mastocitosis es de 10 casos por 10.000 habitantes a nivel mundial y se clasifica en mastocitosis cutánea y sistémica afectando tanto a niños como adultos. Objetivo: caracterizar los biomarcadores utilizados en el pronóstico, diagnóstico y seguimiento de Mastocitosis.Método: se realizó una revisión bibliográfica mediante la búsqueda de información en las bases de datos como Pubmed, SciencieDirect y Google Académico, durante el periodo marzo-mayo del 2024, incluyendo un total de 35 artículos en inglés, publicados en los últimos 5 años y varios publicados antes del 2019 que aportaron con información relevante al tema. Resultados: se estableció que los biomarcadores de pronóstico permiten identificar las formas graves de la enfermedad, mientras que los de diagnóstico y seguimiento se utilizan para confirmar la enfermedad, evaluar progresión, eficacia del tratamiento, identificar el riesgo de anafilaxia y los subtipos de mastocitosis.Conclusión: se caracterizaron biomarcadores para el pronóstico de mastocitosis como la triptasa sérica basal (BST) y α-triptasemia hereditaria (HαT). Además, biomarcadores de diagnóstico y seguimiento como: la mutación KID D816V, análisis de vesículas extracelulares (EVs), CD25+/CD2+/CD30+, MITF, miARNs, LBP, CXCL7, TGF-β1, PDGFRβ, IL-6, leucotrienos, prostaglandina, histamina e IgE.

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KITD816V mutation in blood for the diagnostic screening of systemic mastocytosis and mast cell activation syndromes

Abstract: This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.

Cited by 17 publications

References 50 publications

KIT Mutations and Other Genetic Defects in Mastocytosis

KIT Mutations and Other Genetic Defects in Mastocytosis

Fatal Hymenoptera Venom–Triggered Anaphylaxis in Patients with Unrecognized Clonal Mast Cell Disorder—Is Mastocytosis to Blame?

Diagnostic biomarkers in mastocytosis

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