Academic Journal
A clinical, morphological and molecular study of 70 patients with gastrointestinal involvement in systemic mastocytosis
| Title: | A clinical, morphological and molecular study of 70 patients with gastrointestinal involvement in systemic mastocytosis |
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| Authors: | Johannes Lübke, Nicole Naumann, Oliver Hoffmann, Hans-Peter Horny, Karl Sotlar, Martina Rudelius, Georgia Metzgeroth, Alice Fabarius, Wolf-Karsten Hofmann, Andreas Reiter, Juliana Schwaab |
| Source: | Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024) |
| Publisher Information: | Nature Portfolio, 2024. |
| Publication Year: | 2024 |
| Collection: | LCC:Medicine LCC:Science |
| Subject Terms: | Medicine, Science |
| More Details: | 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. |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 2045-2322 |
| Relation: | https://doaj.org/toc/2045-2322 |
| DOI: | 10.1038/s41598-023-49749-z |
| Access URL: | https://doaj.org/article/401bed6d276b43f0807e3552a3d9913f |
| Accession Number: | edsdoj.401bed6d276b43f0807e3552a3d9913f |
| Database: | Directory of Open Access Journals |
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| ISSN: | 20452322 |
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| DOI: | 10.1038/s41598-023-49749-z |
| Published in: | Scientific Reports |
| Language: | English |