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Introduction <p>Gastrointestinal stromal tumors (GISTs) exhibit remarkable clinical and morphological heterogeneity, occasionally manifesting in unexpected or deceptively atypical forms. This study presents twelve surgically managed cases encompassing the full spectrum—from classic lesions to rare presentations such as spontaneous rupture with peritonitis, ileo-colic intussusception, blunt-trauma-related rupture, and a cystic omental GIST mimicking ovarian carcinoma—illustrating the diagnostic complexity of these tumors.</p> Materials and methods <p>This retrospective study analyzed prospectively maintained data of 12 GIST patients with atypical presentations treated surgically at tertiary oncology centre in India (2018–2025), documenting demographics, presentation status, imaging, clinical features, prior therapies, and tumor characteristics.</p> Results <p>The study assessed 12 patients (7 males, 5 females) with a mean age of 43.3 ± 15.5 years (range, 19–75 years). The small bowel was the predominant tumor site (50%), primarily affecting the duodenum, followed by the stomach (25%). Symptoms were mostly non-specific, with three patients presenting as acute emergencies from perforation due to spontaneous rupture, intussusception, and blunt trauma abdomen. Initial misdiagnoses included pancreatic, desmoid, or ovarian tumors in three cases. One patient received neoadjuvant imatinib, followed by total gastrectomy, but experienced recurrence, requiring further surgery. Histopathological analysis showed 83.33% C-Kit positivity, with most classified as high-risk per NIH criteria, and all patients were alive at the last follow-up.</p> Conclusion <p>This study synthesizes rare, atypical, and emergency manifestations of GIST into a single comprehensive reference, emphasizing the importance of heightened diagnostic awareness and multidisciplinary care. GISTs should be recognized as important differential diagnoses in unusual intra-abdominal presentations rather than as entities of exclusion.</p>

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Gastrointestinal Stromal Tumours: Epitome of Variability

  • 期刊论文

  • 发表日期：

    2025年12月2日

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  • BR Sreejith,
  • Prashant Gupta,
  • Sree Hari Pothina,
  • Naveen Kumar Kushwaha,
  • Nandini Sarkar,
  • Nihanthy D. Sreenath

摘要

Introduction

Gastrointestinal stromal tumors (GISTs) exhibit remarkable clinical and morphological heterogeneity, occasionally manifesting in unexpected or deceptively atypical forms. This study presents twelve surgically managed cases encompassing the full spectrum—from classic lesions to rare presentations such as spontaneous rupture with peritonitis, ileo-colic intussusception, blunt-trauma-related rupture, and a cystic omental GIST mimicking ovarian carcinoma—illustrating the diagnostic complexity of these tumors.

Materials and methods

This retrospective study analyzed prospectively maintained data of 12 GIST patients with atypical presentations treated surgically at tertiary oncology centre in India (2018–2025), documenting demographics, presentation status, imaging, clinical features, prior therapies, and tumor characteristics.

Results

The study assessed 12 patients (7 males, 5 females) with a mean age of 43.3 ± 15.5 years (range, 19–75 years). The small bowel was the predominant tumor site (50%), primarily affecting the duodenum, followed by the stomach (25%). Symptoms were mostly non-specific, with three patients presenting as acute emergencies from perforation due to spontaneous rupture, intussusception, and blunt trauma abdomen. Initial misdiagnoses included pancreatic, desmoid, or ovarian tumors in three cases. One patient received neoadjuvant imatinib, followed by total gastrectomy, but experienced recurrence, requiring further surgery. Histopathological analysis showed 83.33% C-Kit positivity, with most classified as high-risk per NIH criteria, and all patients were alive at the last follow-up.

Conclusion

This study synthesizes rare, atypical, and emergency manifestations of GIST into a single comprehensive reference, emphasizing the importance of heightened diagnostic awareness and multidisciplinary care. GISTs should be recognized as important differential diagnoses in unusual intra-abdominal presentations rather than as entities of exclusion.