Systemic Mastocytosis: Molecular Landscape and Implications for Treatment.
Allele burden
KIT
Systemic mastocytosis
Tyrosine kinase inhibitor
Journal
Mediterranean journal of hematology and infectious diseases
ISSN: 2035-3006
Titre abrégé: Mediterr J Hematol Infect Dis
Pays: Italy
ID NLM: 101530512
Informations de publication
Date de publication:
2021
2021
Historique:
received:
26
05
2021
accepted:
11
06
2021
entrez:
19
7
2021
pubmed:
20
7
2021
medline:
20
7
2021
Statut:
epublish
Résumé
Over the past decade, we have witnessed significant advances in the molecular characterization of systemic mastocytosis (SM). This has provided important information for a better understanding of the pathogenesis of the disease but has also practically impacted the way we diagnose and manage it. Advances in molecular testing have run in parallel with advances in therapeutic targeting of constitutive active KIT, the major driver of the disease. Therefore, assessing the molecular landscape in each SM patient is essential for diagnosis, prognosis, treatment, and therapeutic efficacy monitoring. This is facilitated by the routine availability of novel technologies like digital PCR and NGS. This review aims to summarize the pathogenesis of the disease, discuss the value of molecular diagnostic testing and how it should be performed, and provide an overview of present and future therapeutic concepts based on fine molecular characterization of SM patients.
Identifiants
pubmed: 34276915
doi: 10.4084/MJHID.2021.046
pii: mjhid-13-1-e2021046
pmc: PMC8265368
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
e2021046Déclaration de conflit d'intérêts
Competing interests: The authors declare no conflict of Interest.
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