Neurofibromatosis type I identified in a patient with four concurrent neoplasms (neurofibroma, GIST, pheochromocytoma and ampullary NET): a case report with literature review

Abstract

Abstract BACKGROUND Neurofibromatosis type-1 (NF1) is a multi-organ and multi-systemic disorder. Diagnostic features include café au lait spots, freckling in axilla or groin, neurofibromas (cutaneous or plexiform) and first-degree relation to a NF1 person. Some people may present with unusual symptoms and tumors, thus remain underdiagnosed. CASE PRESENTATION We present a case of 42-year-old laborer from north of Pakistan who was diagnosed with NF1 after he underwent workup for four co-existing tumors i.e., Cutaneous neurofibroma, GIST, pheochromocytoma and ampullary duodenal NET. He presented with 2 months history of melena (4 to 5 episodes/day) & abdominal discomfort. Physical examination showed blood pressure of 160/95 mm hg, multiple cutaneous nodules (1 to 3 cm), café au lait spots and axillary freckling. Ultrasound abdomen showed a complex cystic area at the upper pole of right kidney. Differentials included Pheochromocytoma. CT scan KUB confirmed the above finding. Another small intraluminal lesion in 2nd part of the duodenum along with atrophied pancreas was also seen. Lab investigations showed mildly raise direct bilirubin & significantly raised urinary VMA levels. Biopsy of cutaneous nodules which revealed Neurofibroma on histopathology. Patient underwent exploratory laparotomy & right adrenalectomy, partial gastrectomy, cholecystectomy with partial pancreatectomy & small bowel resection up till jejunum. Adrenalectomy specimen revealed pheochromocytoma on histopathology with diffuse chromogranin positivity. Small bowel showed multiple GISTS on serosal surface which were confirmed on histopathology by diffuse positivity of CD117 and DOG 1. Sections from ampulla showed a well differentiated neuroendocrine tumor that showed ki-67 of < 2%. On follow up, patient was doing well & complains had subsided. Ultrasound abdomen only showed mild hepatic cholestasis due to post surgical edema. All lab investigations & blood pressure of patient were within normal range. CONCLUSION It is imperative to investigate extensively all the patients that may come with hallmarks of NF1 such as cutaneous neurofibromas. Presence of synchronous multiple tumors must be investigated for an underlying syndrome. Especially the occurrence of GIST, ampullary NET and pheochromocytoma together must alert the physician to consider the possibility of NF1.