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Related Experiment Video

Updated: Sep 8, 2025

High-Throughput Transcriptome Analysis for Investigating Host-Pathogen Interactions
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GIST is not all that it seems.

Pedro López Morales1, Miguel Ruiz Marín2, Patricia Pastor Pérez2

  • 1Cirugía General y del Aparato Digestivo, Hospital General Universitario Reina Sofía, España.

Revista Espanola De Enfermedades Digestivas
|June 15, 2022
PubMed
Summary
This summary is machine-generated.

A rare gastric submucosal tumor was diagnosed in a 41-year-old female presenting with epigastric pain. Endoscopic biopsies revealed spindle cells, leading to a diagnosis of a gastrointestinal stromal tumor (GIST) variant.

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Area of Science:

  • Gastroenterology
  • Surgical Pathology
  • Oncology

Background:

  • Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the gastrointestinal tract.
  • Accurate diagnosis and subtyping are crucial for appropriate patient management and prognosis.

Observation:

  • A 41-year-old female presented with a 2-month history of epigastric pain and vomiting.
  • Upper endoscopy revealed a gastric submucosal tumor with central ulceration.
  • Initial biopsies were non-diagnostic, but endoscopic ultrasound-guided biopsies showed spindle cells.

Findings:

  • Immunohistochemistry was negative for CD117 and smooth muscle actin, but positive for S100 protein.
  • CT scan confirmed a heterogeneous mass within the stomach wall.
  • The findings are suggestive of a rare variant of GIST, distinct from typical presentations.

Implications:

  • This case highlights the diagnostic challenges of GISTs, particularly rare subtypes.
  • Endoscopic ultrasound-guided biopsy and comprehensive immunohistochemistry are essential for accurate diagnosis.
  • Further research into the specific characteristics and behavior of S100-positive GIST variants is warranted.