KIT Mutation in Gastric Gastrointestinal Stromal Tumor in a Patient With Familial Paraganglioma Syndrome Type 4
Bibliographic record
Abstract
OBJECTIVE: Familial paraganglioma syndrome type 4 is associated with mutations in the succinate dehydrogenase complex subunit B (SDHB) gene. We report the case of a patient with familial paraganglioma syndrome type 4 with the mutation c.600G>T; p.Trp200Cys who developed a gastric gastrointestinal stromal tumor (GIST) with a KIT mutation. METHODS: Clinical, radiographic, and genetic data have been presented. RESULTS: A 40-year-old man with familial paraganglioma syndrome type 4 and recurrent paraganglioma presented with epigastric pain. He had undergone resection of a paraganglioma superior to the right adrenal gland at 19 years of age, resection of two para-aortic paragangliomas at 39 years, and resection of a paraganglioma in the interatrial septum at 40 years. Computed tomography scan showed a 3.2 × 3.8-cm gastric body intraluminal polypoid mass. A partial gastrectomy was performed, which revealed a GIST with a KIT mutation (NM_000222.2[KIT]:c.2466T>A[p.Asn822Lys]). CONCLUSION: This case provides further evidence that mutations in SDHB and KIT are not mutually exclusive with GISTs. It also identifies the need for endoscopic evaluation for GIST in patients with familial paraganglioma syndrome type 4 with unexplained gastrointestinal symptoms.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".