Researchers highlighted the current diagnostic and prognostic standards of mast cell neoplasms and published their findings in the Journal of Allergy and Clinical Immunology.
In their article, they propose an algorithm that includes genetic markers as well as clinical and histopathological criteria for the diagnosis and prognosis of systemic mastocytosis. They propose that the diagnostic algorithm should be applied to adult patients with the disease.
“In patients with cutaneous mastocytosis or with indolent systemic mastocytosis (ISM), various KIT-activating mutations act as key molecular drivers of the disease,” they wrote. However, the types of mutations seen in adults and children with the disease are different with the most prevalent mutation seen in adults being KIT p.D816V.
Other mutations can also be detected in different types of systemic mastocytosis such as aggressive and hematological neoplasm-associated systemic mastocytosis, the researchers said. These include mutations in the SRSF2, JAK2, RUNX1, ASXL1, or RAS genes.
Read more about systemic mastocytosis overview
Finally, they report that hereditary alpha-tryptasemia, which is common in patients with mastocytosis, seems to be associated with a high risk of anaphylactic reactions induced by wasp and bee venom.
The algorithm that the researchers propose is therefore based on biochemical, molecular, genetic, and cytogenetic markers as well as prognostically relevant clinical and biological parameters.
“In the near future, these new tools should lead to better classification of systemic mastocytosis patients into various risk groups regarding progression and survival,” the authors concluded.
Mastocytosis, which used to be considered a subgroup of myeloproliferative neoplasm, has been classified as a separate disease category since 2016. There are 3 types of mastocytosis: cutaneous, systemic, and mast cell sarcoma. Systemic mastocytosis is further classified as indolent, smoldering, or with an associated hematologic neoplasm.
Arock M, Hoermann G, Sotlar K, et al. Clinical impact and proposed application of molecular markers, genetic variants and cytogenetic analysis in mast cell neoplasms: status 2022. J Allergy Clin Immunol. Published online April 14, 2022. doi:10.1016/j.jaci.2022.04.004