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Predictors of Clonality and Underlying Mastocytosis in Mast Cell Activation Syndromes

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Abstract

Purpose of Review

Mast cell (MC) activation can present with a wide range of symptoms. The mechanisms that cause such activation are varied. One of them is the presence of clonal MCs which is defined, within other possible changes, by the presence of a somatic, activating mutation in the KIT gene. The clinical course and prognosis of patients with this underlying disease may be different from other causes of MC activation (MCA). For this reason, it is important to early diagnose, or at least suspect, which patients with MCA are due to clonal MCs.

Recent Findings

The diagnosis of clonality must be made in a comprehensive manner. However, this paper reviews chronologically each of the stages from the patient’s first visit to the doctor’s office which can be indicative of clonality: clinical presentation of MCA, physical examination, analytical determinations of tryptase, and/or KIT mutational analysis and bone involvement, among others. The different clonality predictive scores proposed are also reviewed and compared.

Summary

Although the gold standard for the diagnosis of certainty of MC clonality is the performance of a bone marrow (BM) biopsy, there are clinical symptoms, signs, and biological parameters suggestive of clonality, as well as predictive scores, which can guide (or rule out) an early diagnosis and avoid unnecessary BM biopsies.

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Data Availability

The data that support the findings of this review are not openly available due to reasons of sensitivity and are available from the corresponding author upon reasonable request.

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Authors and Affiliations

  1. Department of Allergy, Hospital Ramón y Cajal, IRYCIS, Ctra. Colmenar Viejo km 9,1, 28034, Madrid, Spain

    David Gonzalez-de-Olano

  2. Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain

    David Gonzalez-de-Olano & Iván Álvarez-Twose

  3. Reference Center (CSUR) for Mastocytosis, Instituto de Estudios de Mastocitosis de Castilla La Mancha (CLMast), Virgen del Valle Hospital, Complejo Hospitalario Universitario de Toledo (CHUT), Ctra. Cobisa s/n, 45071, Toledo, Spain

    Iván Álvarez-Twose

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Both DGO and IAT equally contributed to the conception, data generation, revision, and approval of the manuscript.

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Gonzalez-de-Olano, D., Álvarez-Twose, I. Predictors of Clonality and Underlying Mastocytosis in Mast Cell Activation Syndromes. Curr Allergy Asthma Rep 24, 25–32 (2024). https://doi.org/10.1007/s11882-023-01122-w

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