Scientific Reports (Jan 2024)

A clinical, morphological and molecular study of 70 patients with gastrointestinal involvement in systemic mastocytosis

  • Johannes Lübke,
  • Nicole Naumann,
  • Oliver Hoffmann,
  • Hans-Peter Horny,
  • Karl Sotlar,
  • Martina Rudelius,
  • Georgia Metzgeroth,
  • Alice Fabarius,
  • Wolf-Karsten Hofmann,
  • Andreas Reiter,
  • Juliana Schwaab

DOI
https://doi.org/10.1038/s41598-023-49749-z
Journal volume & issue
Vol. 14, no. 1
pp. 1 – 9

Abstract

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Abstract In 70 patients with KIT D816V positive systemic mastocytosis (SM) including 36 patients with advanced SM (AdvSM), we correlated the extent of reported mucosal mast cell ([m]MC) infiltration of the upper and/or lower gastrointestinal tract (UGIT, n = 63; LGIT, n = 64; both, n = 57) with symptoms and markers of MC burden/subtype. GI symptoms were reported by all patients (mean 2.1 number of symptoms). A strong mMC infiltration was identified in 24 patients (UGIT, 17/63, 27%; LGIT, 19/64, 30%). Concurrent involvement of UGIT and LGIT (n = 12) correlated with female gender (75%) and a higher symptom burden (mean 2.7) but not with MC burden or subtype. Significant differences between non-AdvSM and AdvSM were reported regarding food intolerance (54% vs. 17%), cramping (54% vs. 22%) and weight loss (0% vs. 64%). KIT D816V was identified in 54/56 (96%) available biopsies. In 46 patients, digital PCR revealed a correlation with low albumin levels (r = − 0.270, P = 0.069) and the KIT D816V VAF in peripheral blood (r = 0.317, P = 0.036) but not with the extent of mMC infiltration or markers of MC burden/subtype. Although MC mediator triggered GI symptoms have a substantial impact on the quality of life, correlation to objective disease parameters is lacking thus making its systematic assessment challenging.