Mastocytosis and related entities: a practical roadmap

Michiel Beyens*, Jessy Elst, Marie-Line van der Poorten, Athina Van Gasse, Alessandro Toscano, Anke Verlinden, Katrien Vermeulen, Marie-Berthe Maes, J. N. G. H Oude Elberink, Didier Ebo, Vito Sabato

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

4 Citations (Scopus)

Abstract

Mastocytosis is a complex heterogenous multisystem disorder that is characterized by pathologic activation or accumulation of neoplastic mast cells (MCs) in one or more organs. This clonal MC expansion is often associated with a somatic gain-of-function mutation (D816V in most of the cases) in the KIT gene, encoding for the MC surface receptor KIT (CD117), a stem cell growth factor receptor. Based on clinical and biochemical criteria, the World Health Organization (WHO) divided mastocytosis into different subclasses. The exact prevalence of mastocytosis remains elusive, but it is estimated that the disease affects approximately 1 in 10,000 persons. The clinical presentation of mastocytosis varies significantly, ranging from asymptomatic patients to a life-threatening disease with multiple organ involvement, potentially leading to cytopenia, malabsorption, hepatosplenomegaly, lymphadenopathy, ascites or osteolytic bone lesions with pathological fractures. Patients with mastocytosis may experience symptoms related to release of MC mediators, such as flushing or diarrhea or even more severe symptoms such as anaphylaxis. Recently, a new genetic trait, hereditary alpha tryptasemia (HaT), was described which involves a copy number variation in the TPSAB1-gene. Its role as standalone multisystem syndrome is heavily debated. There is emerging evidence suggesting there might be a link between HaT and due to the increased prevalence of HaT in patients with SM. The aim of this review is to provide a practical roadmap for diagnosis and management of mastocytosis and its associated entities, since there are still many misconceptions about these topics.

Original languageEnglish
Pages (from-to)325-335
Number of pages11
JournalActa clinica belgica
Volume78
Issue number4
Early online date19-Oct-2022
DOIs
Publication statusPublished - 2023

Keywords

  • Mastcytosis
  • hereditary alpha typtasemia
  • anaphylaxis
  • mast cell
  • MCAS
  • MAST-CELL DISORDERS
  • SYSTEMIC MASTOCYTOSIS
  • ACTIVATION SYNDROME
  • DIAGNOSIS
  • TRYPTASE
  • INDOLENT
  • DISEASE
  • CLASSIFICATION
  • PREVALENCE

Fingerprint

Dive into the research topics of 'Mastocytosis and related entities: a practical roadmap'. Together they form a unique fingerprint.

Cite this