{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T15:20:44Z","timestamp":1781796044459,"version":"3.54.5"},"reference-count":29,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T00:00:00Z","timestamp":1764115200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Department of Laboratory Medicine and Pathology"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Gastrointestinal (GI) symptoms are common in systemic mastocytosis (SM). We hereby report the clinicopathologic and molecular features of GI mastocytosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>The study includes 104 patients with suspected SM. Of 258 GI biopsy \u00adspecimens, 33 (20 patients, 19%) were mastocytosis-positive, with 19 (16 patients) initially missed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Tryptase (n\u2009=\u200929) was weakly positive\/negative in two-thirds of the mastocytosis-positive GI biopsy specimens. Additional immunohistochemistry (n\u2009=\u200923) showed positive mast cell expression for CD30 (n\u2009=\u20092), CD123 (n\u2009=\u20097), and PD-L1 (n\u2009=\u200912), as well as increased PD-1\u2013positive cells (n\u2009=\u20094). Sixty patients had positive bone marrow (BM) for SM (SM-BM+), including 19 with positive GI biopsy specimens (SM-GI+). Almost all (43\/44) SM-BM\u2013 patients were SM-GI\u2013. The SM-GI vs SM-BM status showed high positive predictive value (95%) and specificity (98%). Patients with SM with mastocytosis-positive vs mastocytosis-negative GI biopsy specimens had higher serum tryptase levels (P = .04). KIT D816V mutation was detected in 7 of 13 and 12 of 13 mastocytosis-positive GI biopsy specimens using allele-specific polymerase chain reaction and droplet digital polymerase chain reaction (ddPCR), respectively.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>GI mastocytosis is highly predictive of SM in BM; however, most SM-BM+ patients are SM-GI\u2013. The SM-BM\u2013 patients are very unlikely to be SM-GI+. Because GI neoplastic mast cells are often tryptase negative, diagnostic evaluation should include CD117 and CD25 immunohistochemistry, as well as KIT D816V mutation analysis by ddPCR as needed.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ajcp\/aqaf112","type":"journal-article","created":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T11:31:24Z","timestamp":1757417484000},"page":"879-889","source":"Crossref","is-referenced-by-count":1,"title":["Distinct clinical, laboratory, molecular, and pathologic features of systemic mastocytosis involving the gastrointestinal tract"],"prefix":"10.1093","volume":"164","author":[{"given":"April","family":"Chiu","sequence":"first","affiliation":[{"name":"Division of Hematopathology, Mayo Clinic , Rochester, MN,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David S","family":"Viswanatha","sequence":"additional","affiliation":[{"name":"Division of Hematopathology, Mayo Clinic , Rochester, MN,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6116-8163","authenticated-orcid":false,"given":"Rong","family":"He","sequence":"additional","affiliation":[{"name":"Division of Hematopathology, Mayo Clinic , Rochester, MN,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie A","family":"Majerus","sequence":"additional","affiliation":[{"name":"Division of Hematopathology, Mayo Clinic , Rochester, MN,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaaren K","family":"Reichard","sequence":"additional","affiliation":[{"name":"Division of Hematopathology, Mayo Clinic , Rochester, MN,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayalew","family":"Tefferi","sequence":"additional","affiliation":[{"name":"Division of Hematology, Mayo Clinic , Rochester, MN,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Animesh","family":"Pardanani","sequence":"additional","affiliation":[{"name":"Division of Hematology, Mayo Clinic , Rochester, MN,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7627-9560","authenticated-orcid":false,"given":"Dong","family":"Chen","sequence":"additional","affiliation":[{"name":"Division of Hematopathology, Mayo Clinic , Rochester, MN,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,11,26]]},"reference":[{"key":"2026010814424990700_aqaf112-B1","first-page":"84","volume-title":"The Internal Consensus Classification of Myeloid and Lymphoid Neoplasms","author":"Reichard","year":"2025"},{"key":"2026010814424990700_aqaf112-B2","first-page":"64","volume-title":"Haematolymphoid Tumours.","author":"Verstovsek","year":"2024"},{"key":"2026010814424990700_aqaf112-B3","doi-asserted-by":"publisher","first-page":"1021","DOI":"10.1111\/his.13033","article-title":"Clinicopathological characteristics of systemic mastocytosis in the intestine","volume":"69","author":"Shih","year":"2016","journal-title":"Histopathology"},{"key":"2026010814424990700_aqaf112-B4","doi-asserted-by":"publisher","first-page":"832","DOI":"10.1097\/pas.0000000000000190","article-title":"A clinicopathologic study of 24 cases of systemic mastocytosis involving the gastrointestinal tract and assessment of mucosal mast cell density in irritable bowel syndrome and asymptomatic patients","volume":"38","author":"Doyle","year":"2014","journal-title":"Am J Surg Pathol"},{"key":"2026010814424990700_aqaf112-B5","doi-asserted-by":"publisher","first-page":"1508","DOI":"10.1038\/modpathol.2008.158","article-title":"Systemic mastocytosis involving the gastrointestinal tract: clinicopathologic and molecular study of five cases","volume":"21","author":"Kirsch","year":"2008","journal-title":"Mod Pathol"},{"key":"2026010814424990700_aqaf112-B6","doi-asserted-by":"publisher","first-page":"866","DOI":"10.1016\/j.jaci.2013.05.026","article-title":"Gastrointestinal manifestations in mastocytosis: a study of 83 patients","volume":"132","author":"Sokol","year":"2013","journal-title":"J Allergy Clin Immunol"},{"key":"2026010814424990700_aqaf112-B7","doi-asserted-by":"publisher","first-page":"657","DOI":"10.1016\/s0016-5085(88)80012-x","article-title":"Gastrointestinal dysfunction in systemic mastocytosis. 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