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Precision Medicine in Systemic Mastocytosis
- Source :
- Medicina, Vol 57, Iss 1135, p 1135 (2021), Medicina, Università degli Studi del Piemonte Orientale-IRIS
- Publication Year :
- 2021
- Publisher :
- MDPI AG, 2021.
-
Abstract
- Mastocytosis is a rare hematological neoplasm characterized by the proliferation of abnormal clonal mast cells (MCs) in different cutaneous and extracutaneous organs. Its diagnosis is based on well-defined major and minor criteria, including the pathognomonic dense infiltrate of MCs detected in bone marrow (BM), elevated serum tryptase level, abnormal MCs CD25 expression, and the identification of KIT D816V mutation. The World Health Organization (WHO) classification subdivides mastocytosis into a cutaneous form (CM) and five systemic variants (SM), namely indolent/smoldering (ISM/SSM) and advanced SM (AdvSM) including aggressive SM (ASM), SM associated to hematological neoplasms (SM-AHN), and mast cell leukemia (MCL). More than 80% of patients with SM carry a somatic point mutation of KIT at codon 816, which may be targeted by kinase inhibitors. The presence of additional somatic mutations detected by next generation sequencing analysis may impact prognosis and drive treatment strategy, which ranges from symptomatic drugs in indolent forms to kinase-inhibitors active on KIT. Allogeneic stem cell transplant (SCT) may be considered in selected SM cases. Here, we review the clinical, diagnostic, and therapeutic issues of SM, with special emphasis on the translational implications of SM genetics for a precision medicine approach in clinical practice.
- Subjects :
- Pathology
medicine.medical_specialty
Medicine (General)
Somatic cell
precision medicine
Tryptase
Leukemia, Mast-Cell
Review
systemic mastocytosis
tyrosine kinase inhibitor
R5-920
Mastocytosis, Systemic
medicine
Humans
genetics
IL-2 receptor
Systemic mastocytosis
KIT
biology
business.industry
General Medicine
Mast cell leukemia
medicine.disease
Proto-Oncogene Proteins c-kit
medicine.anatomical_structure
Mutation
biology.protein
Hematological neoplasm
Tryptases
Bone marrow
Stem cell
business
Subjects
Details
- Language :
- English
- ISSN :
- 16489144
- Volume :
- 57
- Issue :
- 1135
- Database :
- OpenAIRE
- Journal :
- Medicina
- Accession number :
- edsair.doi.dedup.....d1f64f1f7f74c4153cd0f42ee8b49922