Abstract
Simple SummaryMastocytosis is a group of neoplastic mast cell disorders ranging from a skin-limited disease to a systemic form with multi-organ involvement, including gut involvement. Clinical manifestations and outcome of systemic mastocytosis are variable. Symptoms may result from either release of mast cell mediators or tissue infiltration by mast cell proliferation. Gastrointestinal symptoms are one of the major causes of morbidity in these patients. The diagnosis of gastrointestinal mastocytosis can be tricky, as symptoms often mimic other more common gastrointestinal diseases; the endoscopic appearance is often unremarkable or nonspecific and the infiltrate can be focal and subtle and easily missed unless special stains are used. This review aims to better define the gastrointestinal involvement in systemic mastocytosis, discussing potential diagnostic pitfalls and pointing out the importance of a multidisciplinary approach for a prompt diagnosis and treatment.Mastocytosis represents a heterogeneous group of neoplastic mast cell disorders. The basic classification into a skin-limited disease and a systemic form with multi-organ involvement remains valid. Systemic mastocytosis is a disease often hard to diagnose, characterized by different symptoms originating from either the release of mast cell mediators or organ damage due to mast cell infiltration. Gastrointestinal symptoms represent one of the major causes of morbidity, being present in 60–80% of patients. A high index of suspicion by clinicians and pathologists is required to reach the diagnosis. Gastrointestinal mastocytosis can be a challenging diagnosis, as symptoms simulate other more common gastrointestinal diseases. The endoscopic appearance is generally unremarkable or nonspecific and gastrointestinal mast cell infiltration can be focal and subtle, requiring an adequate sampling with multiple biopsies by the endoscopists. Special stains, such as CD117, tryptase, and CD25, should be performed in order not to miss the gastrointestinal mast cell infiltrate. A proper patient’s workup requires a multidisciplinary approach including gastroenterologists, endoscopists, hematologists, oncologists, and pathologists. The aim of this review is to analyze the clinicopathological features of gastrointestinal involvement in systemic mastocytosis, focusing on the relevance of a multidisciplinary approach.
Highlights
Mast cells (MCs) are multifunctional cells involved in innate and acquired immunity and attendant inflammatory reactions [1–3]
An elevated serum tryptase level above 20 ng/mL is a typical finding of Systemic mastocytosis (SM) and further exams including BM biopsy and KIT mutation analysis are recommended
MCs represent a source of either protumorigenic factors favoring angiogenesis and tumor growth or anti-tumorigenic molecules (TNFα and IL-9) with a protective function
Summary
Mast cells (MCs) are multifunctional cells involved in innate and acquired immunity and attendant inflammatory reactions [1–3]. They have high-affinity receptors for IgE (IgERs) and synthesize inflammatory and vasoactive mediators, which are stored in the metachromatic granules of mature MCs [1–3]. MCs determine clinical manifestations through mediator release [1–3]. Mast cell activation (MCA) may occur in different physiologic and pathologic conditions [3]. Clinical symptoms resulting from MCA can be observed in the setting of allergic diseases, but even in the context of MC neoplasms [3]. If MCA symptoms are severe and recurrent, the possibility of mast cell activation syndrome (MCAS) should be considered [3,4]
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