Volume 27, Issue 131, January 2023

Neurofibromatosis type 1 patient presenting with multiple small bowel gastrointestinal stromal tumors: A case report

Sawsan Yaseen Abdulla Ali Isa^1♦, Yaser Ebrahim Alderazi², Aalaa S Shubbar³

¹General Practitioner, Department of Surgery, Department of Surgery, Salmaniya Medical Complex, Bahrain
²Consultant General Surgery, Department of Surgery, Salmaniya Medical complex, Bahrain
³Histopathology Resident, Department of Pathology, Salmaniya Medical Complex, Bahrain

^♦Corresponding author
General Practitioner, Department of Surgery, Department of Surgery, Salmaniya Medical Complex, Bahrain

ABSTRACT

Background: Multiple gastrointestinal stromal tumors (GIST) are exceptionally rare. They usually occur in certain syndromes such as neurofibromatosis type 1 (NF1). GIST tumors in NF1 patients behave in a specific manner, which is explained by their distinct molecular biology compared to sporadic GIST. Also, they lack of specific mutations, making them resistant to biological therapy, imatinib. Case report: A 62-year-old female, known to have NF1 presented with acute lower gastrointestinal bleeding. Further investigations revealed a bleeding mass in the jejunum. During surgery, two more masses were identified in the terminal ilium and histopathological analysis confirmed 3 GIST tumors. The patient made full recovery and no further treatment was required. Conclusion: NF1 GISTs are considered unique in both presentation and management. Further research is required to understand these neoplasms, which will provide better treatment options and improve outcomes for NF1 patients.

Keywords: GIST, NF1, imatinib, case report

Medical Science, 2023, 27, e47ms2714

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DOI: https://doi.org/10.54905/disssi/v27i131/e47ms2714

Published: 14 January 2023