Mast cell tumor pathophysiology

Mast cell tumor Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Mast Cell Tumor from other Diseases
Epidemiology and Demographics
Risk Factors
Natural History, Complications and Prognosis
Diagnosis
Diagnostic Study of Choice
Diagnostic criteria
Staging
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X-ray
Echocardiography or Ultrasound
CT Scan
MRI
Biopsy
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Mast cell tumor pathophysiology On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Mast cell tumor pathophysiology All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Mast cell tumor pathophysiology
CDC on Mast cell tumor pathophysiology
Mast cell tumor pathophysiology in the news
Blogs on Mast cell tumor pathophysiology
Directions to Hospitals Treating Mast cell tumor
Risk calculators and risk factors for Mast cell tumor pathophysiology

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Pathophysiology

• A mast cell originates from the bone marrow and is normally found throughout the connective tissue of the body.
• It is a normal component of the immune system and as it releases histamine it is associated with allergic reactions.
• Mast cell granules contain histamine, heparin, platelet-activating factor, and other substances.
• Mediator release from mast cells has a central role in the development of type 1 hypersensitivity.
• In systemic mastocytosis, abnormal proliferation and microscopic infiltration of mast cells involves skin, bone marrow, gastrointestinal tract, liver, and spleen.
• It is thought that the effects of mastocytosis relate at least in part to mediator release.
• Mast cells express a cell surface receptor, c-kit (CD117), which is the receptor for stem cell factor. In laboratory studies, stem cell factor appears to be important for the proliferation of mast cells.
• Mutations of the c-kit receptor, leading to uncontrolled stimulation of the receptor, is a cause for the disease.

Genetics

Genes involved in the pathogenesis of mast cell tumor include: The following genes are involved in the pathogenesis of mast cell tumor:

• KIT
• RAS
• JAK2
• TET2
• DNMT3A
• ASXL1
• CBI