Case report of ascending colon cancer and multiple jejunal GISTs in a patient with neurofibromatosis type 1 (NF1)

• Published in: BMC cancer 2019-12, Vol.19 (1), p.1196-1196, Article 1196
• Main Authors: Shang, Liang, Fang, Zhen, Liu, Jin, Du, Fengying, Jing, Haiyan, Xu, Yali, Dong, Kangdi, Zhang, Xiaoman, Wu, Hao, Jing, Changqing, Li, Leping
• Format: Article
• Language: English
• Subjects: Adenocarcinoma; Adenomatous polyposis coli; Antigens; Autosomal dominant inheritance; Benign; Carbohydrates; Cardiovascular disease; Case Report; Case reports; Cell growth; Coexistence; Colectomy; Colon cancer; Colon, Ascending - pathology; Colon, Ascending - surgery; Colonic Neoplasms - genetics; Colonic Neoplasms - pathology; Colonic Neoplasms - surgery; Colorectal cancer; Comorbidity; Gastrointestinal cancer; Gastrointestinal Stromal Tumors - genetics; Gastrointestinal Stromal Tumors - pathology; Gastrointestinal Stromal Tumors - surgery; Gene mutation; Genes; Genetic disorders; GIST; Hereditary diseases; Humans; Immunohistochemistry; Kinases; Laparoscopy; Lymphatic system; Male; Middle Aged; Mutation; Neurofibromatosis; Neurofibromatosis 1 - genetics; Neurofibromatosis 1 - pathology; Neurofibromatosis 1 - surgery; Neurofibromin 1 - genetics; Neurological disorders; NF1; Patients; Point mutation; Proteins; Recklinghausen's disease; Signal transduction; Smad4 protein; Small intestine; Surgery; Tumor removal; Tumors; Whole Exome Sequencing
• ISSN: 1471-2407; 1471-2407
• DOI: 10.1186/s12885-019-6375-9

NF1(Neurofibromatosis type 1) is an autosomal dominant genetic disorder. Patients with NF1 have an increased risk of developing benign or malignant tumours, such as gastrointestinal stromal tumours (GISTs). However, the coexistence of NF1, GIST and colon cancer is very rare, and few cases have been reported in the literature. We admitted a case of a 64-year-old man with type 1 neurofibromatosis, GISTs, and ascending colon cancer. This case was characterized by café-au-lait macules, discrete cutaneous neurofibromas, nodular neurofibromas, multiple jejunal tumours, and ascending colon cancer. Laparoscopic exploration revealed ascending colon cancer and multiple jejunal tumours. Laparoscopic right hemicolectomy and local excision of the jejunal tumours were performed successfully. The pathological results confirmed moderate differentiated adenocarcinoma of the ascending colon with multiple jejunal GISTs (low risk, very low risk). Moreover, the immunohistochemistry results of multiple jejunal GISTs suggest that NF1 is positive. Whole-exome sequencing (WES) of colon cancer revealed mutations in more than 20 genes, including KRAS, PIK3CA, APC, SMAD4, etc. The results of whole-exome sequencing (WES) of jejunal GISTs revealed an NF1 mutation and no KIT or PDGFR gene mutation. We report a rare case of simultaneous NF1, GIST and colon adenocarcinoma. For patients with NF1, benign and/or malignant tumours are often combined. Therefore, these patients should undergo regular physical examinations so that early detection and early treatment can be achieved.