Distinct clinical, laboratory, molecular, and pathologic features of systemic mastocytosis involving the gastrointestinal tract

GI mastocytosis is highly predictive of SM in BM; however, most SM-BM+ patients are SM-GI-. The SM-BM- 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.

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Publication Details

Journal
American Journal of Clinical Pathology
Published
2025-09-09
DOI
https://doi.org/10.1093/ajcp/aqaf112
Primary Topic
Mast cells and histamine
Type
article
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article

Distinct clinical, laboratory, molecular, and pathologic features of systemic mastocytosis involving the gastrointestinal tract

Ayalew Tefferi, Julie A. Majerus, Animesh Dev Pardanani, April Chiu et al.
American Journal of Clinical Pathology
Mast cells and histamine
article

Distinct clinical, laboratory, molecular, and pathologic features of systemic mastocytosis involving the gastrointestinal tract

Ayalew Tefferi, Julie A. Majerus, Animesh Dev Pardanani, April Chiu, Rong Lucy He, Kaaren K. Reichard, Dong Chen, David S. Viswanatha
article en

Abstract

GI mastocytosis is highly predictive of SM in BM; however, most SM-BM+ patients are SM-GI-. The SM-BM- 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.

American Journal of Clinical PathologyVol. 164(6)
Mayo Clinic (US), WinnMed (US), Mayo Clinic in Arizona (US), Mayo Clinic in Florida (US)
Openalex Percentile: Top 59%
Mast cells and histamine
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Distinct clinical, laboratory, molecular, and pathologic features of systemic mastocytosis involving the gastrointestinal tract — Ayalew Tefferi, Julie A. Majerus, et al. · American Journal of Clinical Pathology (2025) | TGRS Research Map | TGRS