Published online Apr 6, 2023. doi: 10.12998/wjcc.v11.i10.2336
Peer-review started: December 21, 2022
First decision: January 20, 2023
Revised: February 1, 2023
Accepted: March 14, 2023
Article in press: March 14, 2023
Published online: April 6, 2023
Processing time: 99 Days and 9.2 Hours
Neurofibromatosis type 1 (NF1) is characterized by café-au-lait patches on the skin and the presence of neurofibromas. Gastrointestinal stromal tumor (GIST) is the most common non-neurological tumor in NF1 patients. In NF1-associated GIST, KIT and PDGFRA mutations are frequently absent and imatinib is ineffective. Surgical resection is first-line treatment.
A 56-year-old woman with NF1 was hospitalized because of an incidental pelvic mass. Physical examination was notable for multiple café-au-lait patches and numerous subcutaneous soft nodular masses of the skin of the head, face, trunk, and limbs. Her abdomen was soft and nontender. No masses were palpated. Digital rectal examination was unremarkable. Abdominal computed tomography was suspicious for GIST or solitary fibrous tumor. Laparoscopy was performed, which identified eight well-demarcated masses in the jejunum. All were resected and pathologically diagnosed as GISTs. The patient was discharged on day 7 after surgery without complications. No tumor recurrence was evident at the 6-mo follow-up.
Laparoscopy is effective for both diagnosis and treatment of NF1-associated GIST.
Core Tip: A thorough medical history and physical examination are imperative in patients with neurofibromatosis type 1 and gastrointestinal symptoms. Such symptoms may indicate the presence of one or more gastrointestinal stromal tumors. Abdominal computed tomography, capsule endoscopy, or small bowel endoscopy should be performed. Laparoscopy may also be performed for both diagnosis and treatment.