Introduction:
The Neurofibromatosis type I (NF1) is an autosomal dominant syndrome that affects 1/3000-1/4000 individuals. Patients with this condition are predisposed to different tumors, like neurofibromas, optic nerve gliomas, gastrointestinal stromal tumors (GIST) and breast cancers.
Presentation of case:
A 78-year-old female patient affected by NF1 in May 2018 during follow-up for a carcinoma of the right breast had persistent anemia requiring regular blood transfusions. She presented with NF 1 with disseminated cutaneous neurofibromas, asthma, hypothyroidism, arterial hypertension and uterine prolapse. She had performed gastroscopy and colonoscopy both negative for neoplastic lesions. She was subjected to chest and abdomen CT which revealed the presence of an ileal lesion of 6.5 × 4 cm suspected of GIST. The patient underwent laparoscopic ileal resection in 120 min and was discharged on the sixth postoperative day.
Discussion:
NF1 is caused by biallelic loss of a tumor suppressor gene. Most GISTs are localized in the stomach and small intestine. Surgery is the first line of treatment for localized disease. The main goal of surgery is complete excision with negative margins. The association between breast cancer and intestinal GIST in NF1 is reported only from two previous studies.
Conclusion:
It is a rare case of association of breast cancer and ileal GIST in NF1. Laparoscopic resection of intestinal GIST has shown in some studies to have oncological outcomes comparable to laparotomy. Furthermore, laparoscopy is associated with better perioperative outcomes and shorter hospital stays. Further studies with a higher level of evidence are needed.