African Journal of Medicine and Surgery

African Journal of Medicine and Surgery ISSN 2756-3324 Vol. 9 (3), pp. 001-007, March, 2022. Available online at www.internationalscholarsjournals.org © International Scholars Journals

Review

Exploring the Genetic and Therapeutic Landscape of Gastrointestinal Stromal Tumors: A Case of Successful Intervention in Metastatic Disease

Ali Mahmood^1*, Martin Luchtefeld^2, Anthony Senagore³ and Allen Silbergleit⁴

¹Department of Colon and Rectal Surgery, Colorectal Surgical Associates, 7900 Fannin, Suite 3700, Houston, TX
77054, USA.
²Department of Colon and Rectal Surgery, The Ferguson Clinic, Grand Rapids Medical and Educational Center,
Michigan State University, 1000 Monroe NW, Grand Rapids, MI 49503, USA.

³Department of Colon and Rectal Surgery, Vice President, Research and Medical Education Spectrum Health, Grand Rapids Medical and Educational Center Michigan State University, Grand Rapids, MI 49503.
⁴Wayne State University School of Medicine St. Joseph Mercy Oakland Hospital 44405 Woodward Avenue Pontiac, MI

48341.

Accepted 15 September, 2021

Abstract

Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors arising from the interstitial cells of Cajal. Originally thought to be leiomyosarcomas, these tumors are traditionally resistant to chemotherapy and radiation therapy. Molecular studies have identified the gene mutations that cause these masses to proliferate. The KIT proto-oncogene and PDGFRA mutations have been successfully implicated as the insults leading to disease. We present a 54 year old male, whose tumor was very aggressive yet multi-modality therapy did show an excellent response. Discovered incidentally while he was undergoing a sigmoid colostomy for benign disease, the patient had evidence of metastatic GIST disease. We utilized radiology, pathology and immunohistochemistry to provide a definitive diagnosis. Radiology was extremely useful in identifying disease and possible metastases. Furthermore the use of PET scans, particularly PET/CT allows clinicians to monitor and tailor therapy. Successful management of GISTs involves medical and surgical therapy. Imatinib mesylate is a drug used to inhibit the production of the KIT proto-oncogene. Coupled with surgery, this combination holds promise in successful management and possible eradication of the disease.

Key words: Gastrointestinal stromal tumor, PET scan, Imatinib, gene therapy, small bowel obstruction.