Gastrointestinal stromal tumours: A clinicopathological perspective

Aishwarya S, Shanmugapriya M, Suresh R, Eswari V, Aruthra P, Lokeshwari V

Pdf Page Numbers :- 277-285

Aishwarya S^1,*, Shanmugapriya M¹, Suresh R¹, Eswari V¹, Aruthra P¹ and Lokeshwari V¹

¹Department of Pathology, Meenakshi Medical College Hospital and Research Institute, Meenakshi Academy of Higher Education and Research (Deemed to be University), Kanchipuram - 631552, Tamil Nadu, India

*Corresponding author: Dr. Aishwarya S, MD, Associate Professor, Meenakshi Medical College Hospital and Research Institute, Meenakshi Academy of Higher Education and Research (Deemed to be University), Kanchipuram - 631552, Tamil Nadu, India. Email: aishwarya@mmchri.ac.in

Received 14 April 2025; Revised 9 June 2025; Accepted 16 June 2025; Published 25 June 2025

Citation: Aishwarya S, Shanmugapriya M, Suresh R, Eswari V, Aruthra P, Lokeshwari V. Gastrointestinal stromal tumours: A clinicopathological perspective. J Med Sci Res. 2025; 13(3):277-285. DOI: http://dx.doi.org/10.17727/JMSR.2025/13-49

Copyright: © 2025 Aishwarya S et al. Published by KIMS Foundation and Research Center. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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Abstract

Gastrointestinal stromal tumours (GIST) account for only 1-2% of all gastrointestinal (GI) neoplasms, yet they are the most common mesenchymal tumours of the GI tract. They arise from the interstitial cells of Cajal involved in gut motility and peristaltic movement. Early events in GIST development are activating mutations in CD117/c-KIT (cytoplasmic tyrosine kinase) or PDGFRA (Platelet Derived Growth Factor Receptor Alpha), which occur in most GISTs and encode for mutated tyrosine receptor kinases that are therapeutic targets for tyrosine kinase inhibitors. A small minority of GISTs possessing neither KIT nor PDGFRA mutations may have germline mutations in succinate dehydrogenase enzyme (SDH), suggesting a potential role of SDH in the pathogenesis. Immunohistochemical detection of c-KIT, DOG1 has proven to be highly sensitive and specific in the diagnosis of GISTs. Since accurate diagnosis by pathologists is crucial for current and future therapy, it is important to recognize KIT-negative GISTs, GISTs in specific clinical conditions, GISTs with unusual morphology, and GISTs with differential immunostaining that signify mutational subtypes. This case series highlights the biology, clinical presentations, morphology, immunohistochemistry, molecular analysis, and risk assessment of GISTs.

Keywords: GIST; CD117; c-KIT; PDGFRA mutation; immunohistochemistry; tyrosine kinase inhibitor; DOG-1; abdominal mass