2585 Distant Uveal Melanoma Presenting as Jejuno-Jejunal Intussusception After 11 Years!

Abstract

INTRODUCTION: Metastatic melanoma of cutaneous origin is known to affect the GI tract. The jejunum and the ileum are commonly involved sites. Metastatic melanoma of uveal origin affecting the GI tract has been rarely reported. CASE DESCRIPTION/METHODS: A 46 year-old male with a diagnosis of right-sided ophthalmic uveal melanoma (diagnosed in 2007, treated with brachytherapy, with no evidence of recurrent disease) presented to Emergency Department with complaints of abdominal pain, nausea, and vomiting of 2 days. The CT scan of the abdomen showed a small bowel mass, measuring 4.3 × 4.6 × 6 cm causing intussusception. The patient underwent laparoscopic small bowel resection, and was found to have a jejunal mass causing intussusception. The mass was reported as malignant melanoma invading through the muscular wall into subserosal adipose tissue, and two lymph nodes were positive for metastatic melanoma. Next generation sequencing showed GNAQ and SF3B1 mutations, confirming metastatic uveal melanoma. The patient was initially started on a chemotherapy regimen and is now undergoing treatment with immunotherapy. DISCUSSION: Malignant melanoma of cutaneous origin has high metastatic potential. The GI tract is one of the most common sites of metastasis, among which the jejunum and the ileum are the most common sites. Most metastases go unrecognized or do not present clinically with gastrointestinal symptoms. Uveal melanoma does not contain recurrent BRAF or NRAS mutations, which are present in metastatic cutaneous disease. Common sites of metastasis of uveal melanoma include the liver, lung, soft tissue, and bone, whereas cutaneous melanoma metastasizes to the lung, soft tissue, and the GI tract. Cutaneous melanoma metastases to the GI tract have been reported multiple times in the literature, while uveal melanoma metastases to small bowel causing intussusception have rarely been reported. In our case, the patient had no evidence of disease for 11 years before he suddenly presented with GI symptoms. In patients with a history of uveal melanoma, metastatic melanoma should be considered when presenting with unusual GI symptoms.