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World J Clin Oncol. Aug 10, 2013; 4(3): 70-74
Published online Aug 10, 2013. doi: 10.5306/wjco.v4.i3.70
Published online Aug 10, 2013. doi: 10.5306/wjco.v4.i3.70
Behavior of advanced gastrointestinal stromal tumor in a patient with von-Recklinghausen disease: Case report
Samer Sawalhi, Department of Surgery, Permanent researcher in the Centre of Genetics and Inherited Diseases, College of Medicine-Taibah University, Al-Madina 30001, Saudi Arabia
Khalid Al-Harbi, Center of Genetics and Inherited Diseases, College of Medicine, Taibah University, Al-Madina 30001, Saudi Arabia
Zakaria Raghib, Department of Surgery, King Fahd Hospital, Al-Madina 42351, Saudi Arabia
Abdelrahman I Abdelrahman, Department of Radiology, King Fahd Hospital, Al-Madina 42351, Saudi Arabia
Ahmed Al-Hujaily, Department of Pathology, King Fahd Hospital, Al-Madina 42351, Saudi Arabia
Author contributions: Sawalhi S designed research, wrote the paper, assisted in surgery; Al-Harbi K contributed by supplying the reagents/analytic tools; Raghib Z performed the surgery; Abdelrahman AI analyzed radiological data; Al-Hujaily A performed pathological testing.
Correspondence to: Samer Sawalhi, Assistant Professor, Department of Surgery, Permanent researcher in the Centre of Genetics and Inherited Diseases, College of Medicine-Taibah University, PO Box 30001, Al-Madina, Saudi Arabia. drsawalhi@yahoo.com
Telephone: +966-59-6832442 Fax: +966-59-6832442
Received: March 4, 2013
Revised: April 23, 2013
Accepted: May 7, 2013
Published online: August 10, 2013
Revised: April 23, 2013
Accepted: May 7, 2013
Published online: August 10, 2013
Core Tip
Core tip: There are several differences between gastrointestinal stromal tumors (GISTs) in a neurofibromatosis type 1 (NF1) patient and sporadic GISTs with regard to the tumor site, tumor behavior, targeted therapeutic approach, survival, prognosis, and recurrence based on genomic mutations. Wild type GISTs, those that do not have mutations in KIT or platelet-derived growth factor receptor-alpha (PDGFR-α), are typically resistant to imatanib therapy. Mutational analysis is critical in predicting tumor behavior and might individualize targeted therapy. We show that sequencing for KIT and PDGFR-α provide a useful tool in predicting tumor behavior of GIST in a NF1 patient.