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Mastocytosis is characterized by excessive accumulation of mast cells in one or more organs. According to the World Health Organizatiοn classification, three clinical entities fall under the mastocytosis umbrella: cutaneous mastocytosis, systemic mastocytosis (with or without cutaneous manifestations), and mast cell sarcoma. This article deals primarily with systemic mastocytosis.
There is considerable heterogeneity in the presentation of mastocytosis, and in the rate of disease progression. Clinical features include:
- cutaneous manifestations
- hypotension and syncope
- urticaria pigmentosa
- abdominal pain
- nausea, vomiting and diarrhea
- bone pain and pathological fractures
- associated hematological disorders 7
Mast cells are bone marrow-derived cells that are widely distributed in tissues. They store various biologically active mediators, such as heparin and histamine. Mediator release from mast cells has a central role in the development of type 1 hypersensitivity 1.
In systemic mastocytosis, abnormal proliferation and microscopic infiltration of mast cells involve the skin, bone marrow, gastrointestinal tract, liver and spleen. It is thought that the effects of mastocytosis relate at least in part to mediator release 7.
Under the 2016 revision of the WHO classification of tumors of hematopoietic and lymphoid tissues, mastocytosis is no longer considered a type of myeloproliferative neoplasm due to unique clinical and pathologic features.
There are multiple subtypes of systemic mastocytosis with varying clinical courses:
- indolent systemic mastocytosis (most common)
- smoldering systemic mastocytosis
- systemic mastocytosis with an associated hematological neoplasm
- aggressive systemic mastocytosis
- mast cell leukemia
Imaging findings are best categorized by the system rather than by modality. Most features are relatively non-specific but may suggest the diagnosis in the correct clinical setting.
Bone involvement in mastocytosis can be either lytic, sclerotic or mixed 4,5. Diffuse involvement tends to be more common 11. Usually, the radiographic appearance is that of sclerosis involving primarily the axial skeleton and the ends of the long bones. In some patients, there is generalized osteoporosis with the risk of pathological fractures.
- peptic ulcer disease
- diffuse small bowel thickening
- omental and mesenteric thickening 9
- pulmonary nodules (rare) 2,8
- 1. Robbins, Stanley L. 1915-, Kumar, Vinay, 1944-. Robbins and Cotran Pathologic Basis of Disease. (2010) ISBN: 9781416031215 - Google Books
- 2. Ralph Weissleder, Jack Wittenberg, Mukesh G. Harisinghani. Primer of Diagnostic Imaging. (2002) ISBN: 0323023282 - Google Books
- 3. Zettinig G, Becherer A, Szabo M et al. FDG Positron Emission Tomography in Patients with Systemic Mastocytosis. AJR Am J Roentgenol. 2002;179(5):1235-7. doi:10.2214/ajr.179.5.1791235 - Pubmed
- 4. Delsignore J, Dvoretsky P, Hicks D, O'Keefe R, Rosier R. Mastocytosis Presenting as a Skeletal Disorder. Iowa Orthop J. 1996;16:126-34. PMC2378151 - Pubmed
- 5. Johansson C, Roupe G, Lindstedt G, Mellström D. Bone Density, Bone Markers and Bone Radiological Features in Mastocytosis. Age Ageing. 1996;25(1):1-7. doi:10.1093/ageing/25.1.1 - Pubmed
- 6. Vardiman J, Thiele J, Arber D et al. The 2008 Revision of the World Health Organization (WHO) Classification of Myeloid Neoplasms and Acute Leukemia: Rationale and Important Changes. Blood. 2009;114(5):937-51. doi:10.1182/blood-2009-03-209262 - Pubmed
- 7. Metcalfe D. Classification and Diagnosis of Mastocytosis: Current Status. J Invest Dermatol. 1991;96(3 Suppl):2S-4S; discussion 4S, 60S. doi:10.1111/1523-1747.ep12468882 - Pubmed
- 8. Kelly A & Kazerooni E. HRCT Appearance of Systemic Mastocytosis Involving the Lungs. J Thorac Imaging. 2004;19(1):52-5. doi:10.1097/00005382-200401000-00011 - Pubmed
- 9. Nguyen B. CT and Scintigraphy of Aggressive Lymphadenopathic Mastocytosis. AJR Am J Roentgenol. 2002;178(3):769-70. doi:10.2214/ajr.178.3.1780769 - Pubmed
- 10. Avila N, Ling A, Worobec A, Mican J, Metcalfe D. Systemic Mastocytosis: CT and US Features of Abdominal Manifestations. Radiology. 1997;202(2):367-72. doi:10.1148/radiology.202.2.9015059 - Pubmed
- 11. Avila N, Worobec A, Ling A, Hijazi Y, Metcalfe D. Pulmonary and Ovarian Manifestations of Systemic Mastocytosis. AJR Am J Roentgenol. 1996;166(4):969-70. doi:10.2214/ajr.166.4.8610583 - Pubmed