Mastocytosis—A Review of Disease Spectrum with Imaging Correlation

Abstract

Mastocytosis is a rare disorder due to the abnormal proliferation of clonal mast cells. Mast cells exist in most tissues, mature in situ from hematopoietic stem cells and develop unique characteristics of local effector cells. Mastocytosis develops by activation mutation of the KIT surface receptor which is involved in the proliferation of a number of cell lines such as mast cells, germ cells, melanocytes, and hematopoietic cells. It manifests as two main categories: cutaneous mastocytosis and systemic mastocytosis. Imaging can play an important role in detection and characterization of the disease manifestation, not only by radiography and bone scans, but also magnetic resonance imaging and computed tomography, which can be more sensitive in the assessment of distinctive disease patterns. Radiologists should be aware of various appearances of this disease to better facilitate diagnosis and patient management. Accordingly, this review will discuss the clinical presentation, pathophysiology, and role of imaging in detection and extent estimation of the systemic involvement of the disease, in addition to demonstration of appearance on varying imaging modalities. Familiarity with the potential imaging findings associated with mastocytosis can aid in early disease diagnosis and classification and accordingly can lead directing further work up and better management.

Comparative Study of the Role of Interepithelial Mucosal Mast Cells in the Context of Intestinal Adenoma-Carcinoma Progression

“…The pathogenetic and clinically relevant role of MCs in inflammatory and allergic diseases as well as in mastocytosis is well-known and elucidated [53][54][55]. In humans, MCs are typed with respect to their granule content: tryptase (MC T ); chymase (MC C ); and tryptaseand chymase-(MC TC ) positive MCs [56,57].…”

Normal Bone Marrow and Non-neoplastic Systemic Hematopoietic Disorders in the Adult

“…The role of fluorine-18-FDG-PET in SM is uncertain, but it may be of diagnostic value in the rarer SM subtypes. 56…”

Osteoporosis in Patients With Systemic Mastocytosis

“…The response to the excessive amount of cells and mediators is responsible for the clinical features of mastocytosis. The disease is classified as cutaneous and systemic mastocytosis according to the clinical manifestations and the presence of organ involvement [1]. Skeletal system is one of the systems that can be affected in systemic mastocytosis.…”

“…Skeletal abnormalities of systemic mastocytosis include osteopenia, osteolysis, osteoporosis, and osteosclerosis [2]. Osteolysis may lead to osteoporosis and pathologic fractures [1,3].…”