@article { author = {Faiyaz-Ul-Haque, Muhammad and Al-Dayel, Fouad and Tulba, Asma and Abalkhail, Halah and Alhussaini, Hussa and Memon, Muhammad and Bazarbashi, Shouki and Amin, Tarek and Satti, Mohamed B and Peltekova, Iskra and Nawaz, Zafar and Zaidi, Syed H E}, title = {Spectrum of the KIT Gene Mutations in Gastrointestinal Stromal Tumors in Arab Patients}, journal = {Asian Pacific Journal of Cancer Prevention}, volume = {19}, number = {10}, pages = {2905-2910}, year = {2018}, publisher = {West Asia Organization for Cancer Prevention (WAOCP), APOCP's West Asia Chapter.}, issn = {1513-7368}, eissn = {2476-762X}, doi = {10.22034/APJCP.2018.19.10.2905}, abstract = {Background: Gastrointestinal stromal tumors are the most common mesenchymal tumors of the gastrointestinaltract, which originate from the interstitial cells of Cajal. These tumors are characterized by expression of CD117 andCD34 antigens and activating mutations in the KIT and PDGFRA genes. While KIT and PDGFRA mutations have beenextensively studied in other populations, the spectrum of mutations in Arab patients remains unknown. The study aimedat determining the distribution of KIT and PDGFRA mutations and phenotypic characterization of the gastrointestinalstromal tumors in Arab patients. Methods: Sanger sequencing was used to analyze 52 archived gastrointestinal stromaltumors for mutations in the KIT and the PDGFRA genes. Tumor descriptions were obtained from the clinical reportsof patients. Results: In these patients, most tumors occur in the stomach, followed by the rest of the digestive tract. Avast majority of tumors express the CD117 and CD34 antigens. Sequencing of the KIT and PDGFRA genes identifiedfive non-synonymous mutations and 26 deletions (25 novel) in exon 11 of the KIT gene. All non-synonymous mutationsand deletions affect the juxta-membrane domain, which is known to inhibit ligand-independent activation of the KITreceptor. No mutations were found in the PDGFRA gene. Conclusions: Molecular profiling of the gastrointestinalstromal tumors in Arab patients identified a unique spectrum of mutations in exon 11 of the KIT gene. These data areimportant for the diagnosis and management of patients of Arab ethnic origin.}, keywords = {Gastrointestinal stromal tumors,KIT mutations,Arab patients,CD117}, url = {https://journal.waocp.org/article_69131.html}, eprint = {https://journal.waocp.org/article_69131_87f1bc39d4463b82aee5eb9ca9053adc.pdf} }