Neurofibromatosis type 1 (NF1) is associated with various pancreatic tumors. Pancreatic tumors in NF1 are most frequently neuroendocrine tumors (NETs) and less commonly. To date, no cases of NF1 combined with solid pseudopapillary neoplasm of the pancreas (SPN) have been reported. This case report provides the first detailed description of the diagnosis and treatment process of a patient with NF1 combined with pancreatic SPN. By presenting this case, we aim to offer clinicians practical experience and valuable insights to enhance the medical community’s recognition and understanding of this rare disease. This paper reports a 13-year-old female patient who was diagnosed with NF1 by genetic testing. The pancreatic head mass was found via whole-body MRI screening and was diagnosed as SPN via endoscopic ultrasound-guided fine needle aspiration biopsy. For this patient, our center ‘s plan is : the patient ‘s unresectable facial plexiform neurofibroma is treated with the targeted drug Smetitinib, and the patient ‘s pancreatic head tumor is treated with laparoscopic pancreatic tumor resection. The postoperative recovery was smooth, and there was no disease progression during the 6-month follow-up period. Combined with this case report, we also reviewed the literature concerning NF1 combined with pancreatic tumors. To our knowledge, this represents the first reported case of neurofibromatosis type 1 (NF1) associated with a solid pseudopapillary neoplasm of the pancreas (SPN). We also reviewed the characteristics of pancreatic tumors in NF1 patients reported in the literature. Combined with this case, we propose that pancreatic endocrine tumors may be one of the particularly rare clinical manifestations in patients with NF1, although further data analysis and molecular mechanism verification are needed. Nevertheless, this case provides valuable inspiration for the diagnosis and treatment of similar cases.
Yang et al. (Thu,) studied this question.