Non-hematologic diagnosis of systemic mastocytosis: Collaboration of radiology and pathology

Systemic mastocytosis (SM) is a hematologic disease with a wide range of clinical courses ranging from an indolent condition with normal life expectancy to exceedingly aggressive disorder with a poor prognosis. The symptoms and signs of SM result from the release of mast cell mediators with heterogeneous functions, and/or organ damage from neoplastic mast cell infiltration, or both. Diagnostic criteria for SM are well-defined by the World Health Organization (WHO). However, the diagnosis of SM can be difficult when especially it is not in the differential diagnosis. Routinely used radiologic techniques (e.g., X-ray, ultrasound, CT scans can show findings such as lytic-, sclerotic- or mixed-bone lesions, splenomegaly, hepatomegaly, retroperitoneal or periportal mesenteric lymphadenopathy, and omental thickening). It is essential to emphasize that the constellation of these radiologic findings should strongly concern of SM, especially in patients who also have a skin rash, allergic reactions, gastrointestinal tract symptoms (lasting, intermittent nausea, diarrhea), paroxysmal tachycardias, unexplained weight loss, persistent bone pain, cytopenias, liver dysfunction, eosinophilia. These findings, even coincidentally noted, will likely lead to a tissue biopsy, which reveals diagnosis (as we discussed and illustrated some tissue biopsies here). Moreover, the role of MRI and new techniques such as [18-fluorodeoxyglucose positron emission computed tomography, fibroscan] in the diagnosis of SM have been discussed. Furthermore, we reviewed the use of radiologic methods to evaluate treatment response and prognostication of SM.