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Review
. 2021 Jul 1;13(13):3316.
doi: 10.3390/cancers13133316.

Gastrointestinal Manifestations in Systemic Mastocytosis: The Need of a Multidisciplinary Approach

Magda Zanelli  1 , Marco Pizzi  2 , Francesca Sanguedolce  3 , Maurizio Zizzo  4   5 , Andrea Palicelli  1 , Alessandra Soriano  6   7 , Alessandra Bisagni  1 , Giovanni Martino  8 , Cecilia Caprera  8 , Marina Moretti  9 , Francesco Masia  9 , Loredana De Marco  1 , Elisabetta Froio  1 , Moira Foroni  1 , Giuditta Bernardelli  1 , Maria Isabel Alvarez de Celis  10 , Alessandro Giunta  4 , Francesco Merli  10 , Stefano Ascani  8   11
Affiliations
Review

Gastrointestinal Manifestations in Systemic Mastocytosis: The Need of a Multidisciplinary Approach

Magda Zanelli et al. Cancers (Basel). .

Abstract

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.

Keywords: bone marrow; gut; mast cell; mast cell activation; mastocytosis.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Low power view of large bowel lamina propria expanded by a polymorphous infiltrate of oval to spindle-shaped mast cells with admixed granulocytes, small lymphocytes, and plasma cells (panel (A), Hematoxilin and eosin, magnification 100×). High power view of the infiltrate in the lamina propria (panel (B), Hematoxylin and eosin, magnification 400×). High power view of the infiltrate rich in eosinophilic granulocytes (panel (C), Hematoxylin and eosin, magnification 400×). Tryptase positivity highlighting mast cell infiltrate (panel (D), immunostain, magnification 400×); CD117 positivity (panel (E), immunostain, magnification 400×); CD25 expression indicative of clonal mast cells (panel (F), immunostain, magnification 400×).
See this image and copyright information in PMC

References

    1. Galli S.J., Tsai M. IgE and mast cells in allergic disease. Nat. Med. 2012;18:693–704. doi: 10.1038/nm.2755. - DOI - PMC - PubMed
    1. Metcalfe D.D. Mast cells and mastocytosis. Blood. 2008;112:946–956. doi: 10.1182/blood-2007-11-078097. - DOI - PMC - PubMed
    1. Valent P., Akin C., Arock M., Brockow K., Butterfield J.H., Carter M.C., Castelss M., Escribano L., Hartmann K., Lieberman P., et al. Definitions, criteria and global classification of mast cell disorders with special reference to mast cell activation syndromes: A consensus proposal. Int. Arch. Allergy Immunol. 2012;157:215–225. doi: 10.1159/000328760. - DOI - PMC - PubMed
    1. Valent P., Akin C., Bonadonna P., Hartmann K., Brockow K., Niedoszytko M., Nedoszytko B., Siebenhaar F., Sperr W.R., Elberink J.N.O., et al. Proposed Diagnostic Algorithm for Patients with Suspected Mast Cell Activation Syndrome. J. Allergy Clin. Immunol. Pr. 2019;7:1125–1133.e1. doi: 10.1016/j.jaip.2019.01.006. - DOI - PMC - PubMed
    1. Horny H.P., Akin C., Arber D.A., Peterson L.C., Tefferi A., Metcalfe D.D., Bennet J.M., Bain B.J., Escribano L., Valent P. In: WHO Classification of Tumours Haematopoietic and Lymphoid Tissues. Revised 4th ed. WHO Classification of Tumours Editorial Board, editor. IARC; Lyon, France: 2017. pp. 62–69.

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