Mastocytosis
This section provides a very brief summary predominantly of systemic mastocytosis (SM).
For more comprehensive information, see Further Reading.1,2,3
Key points
- Mastocytosis is a proliferation and accumulation of mast cells in one or more tissues of the body.
- Mast cells are derived from the haematopoietic stem cell, therefore mastocytosis is a haematopoietic disorder.
- Mast cell disorders are variable in character, ranging from conditions that spontaneously regress to rapidly fatal multi-system disorders.
- Point mutations of KIT, a proto-oncogene that encodes for the tyrosine kinase receptor for the stem cell factor/mast cell growth factor, are found in the vast majority of adult patients with SM.
- The production of an abnormal tyrosine kinase means that TKIs, e.g., imatinib, may be helpful in managing progressive SM.
Topic Code: 7922