Clinico-Pathological Characteristics and Mutational Analysis of Gastrointestinal Stromal Tumors from India: A Single Institution Experience

Abstract

Background: Gastrointestinal stromal tumor (GIST) is the most common type of mesenchymal neoplasm of gastrointestinal tract. The incidence of GIST in India is not known and its treatment strategy in our country is largely derived from studies in other global populations. Some of the most important features of this type of cancer include its size, site of origin, mitotic index, histology and Immunohistochemistry. In this report we have studied these parameters in the Indian GIST patients presenting at our center. Additionally, we have also studied the mutational spectrum of these GISTs by next generation sequencing. Methods: Thirty one Indian patients of GIST were enrolled in this study and information regarding age, gender, tumor location and size was collected from their records. Immunohistochemistry studies were performed by the pathologist. Mutational analysis of these samples was performed by next generation sequencing. Results and Discussion: The most common site of GIST occurrence in our study was stomach. The tumor size for all 31 patients ranged between 0.6 cms to 20 cms. A spindle-cell pattern was present in 24 out of 31 of the cases. 29 out of 31 subjects were positive for CD117 expression. C-KIT was the most highly mutated gene indentified in our patients. Apart from these findings we observed many similarities as well as dissimilarities between the results of our study and literature published previously. Conclusions: The dissimilarities in the results of our study and published literature could be attributed to the genetic or ethnic differences that exist between the Indian population and other global populations. The results of our study warrant a need to conduct studies of GIST in a much larger population of India. Such large scale studies may also help in better treatment and/or prevention of GIST in developing countries like India.

Clinical, pathological, radiological characteristics, risk stratification and immunohistochemistry profile of gastrointestinal stromal tumors treated in a tertiary cancer centre located in Sub-Himalayan region: institutional experience of 20 patients and review of literature

“…In a study by Minhas et al as well stomach was the most common site of the tumor. 7 In our study GIST was more common in males than females consistent with the studies conducted in other parts of the country. 7,8 Age of the patients varied from 25 years to 76 years with 50 years as median age of diagnosis.…”

“…7 In our study GIST was more common in males than females consistent with the studies conducted in other parts of the country. 7,8 Age of the patients varied from 25 years to 76 years with 50 years as median age of diagnosis. The various sites of lesion in our study were stomach, ileum, jejunum, esophagus, rectum and in two patients the exact origin could not be ascertained.…”

“…The incidence of GIST in India was unknown and its treatment strategy in our country was largely derived from studies in other global populations. 5 Clinical presentation of the patient reporting to the hospital depends upon site from where it arises. GIST arising from upper GI tract may present as upper dysphagia, haematemesis, nausea, vomiting.…”

Targeted Next-Generation Sequencing of Thymic Epithelial Tumours Revealed Pathogenic Variants in KIT, ERBB2, KRAS, and TP53 in 30% of Thymic Carcinomas

“…In this study, the germline KIT p.(Met541Leu) variant was found in 9% of TETs. To date, Met541Leu has mostly been reported in GISTs, in which it is associated with an increased risk of tumour progression and dissemination [ 81 , 82 , 83 ]. Using transfected cell lines, Brahmi et al found that KIT p.(Met541Leu) induced mutant-like intracellular signalling in the presence of stem cell factor [ 81 ].…”

Insights into the medical management of gastrointestinal stromal tumours: lessons learnt from a dedicated gastrointestinal stromal tumour clinic in North India

“…Indian data describing and analysing the mutations is sparse [11][12][13][14]. Minhas et al [15] and Cyriac et al [16] described a cohort of 31 and 24 patients, respectively, wherein c-kit was the most common mutation seen. SDH deficiency, wild type and PDGFRA D842V molecular alterations have been incorporated in the guidelines to better understand the extensive clonal heterogeneity observed in patients with GIST.…”