Published online Dec 7, 2020. doi: 10.3748/wjg.v26.i45.7263
Peer-review started: September 3, 2020
First decision: November 3, 2020
Revised: November 9, 2020
Accepted: November 14, 2020
Article in press: November 14, 2020
Published online: December 7, 2020
Tuberous sclerosis complex (TSC) is a rare inherited disease with non-cancerous tumor growths in the skin, brain, kidneys, heart, and lungs. The co-occurrence of neuroendocrine neoplasm (NEN) with TSC is even rarer. There have been few reports on the relationship between TSC and neuroendocrine tumors (NETs), and fewer on the relationship between TSC and neuroendocrine carcinoma (NEC), a subtype of NEN. This is the first reported case of NEC occurring at the esophagogastric junction in a patient with TSC.
A 46-year-old woman visiting our hospital for the treatment of TSC was admitted to the emergency department with tarry stools and dizziness. Computed tomography scans revealed thickness of the gastric cardia, multiple metastatic lesions of the liver, and enlarged lymph nodes near the lesser curvature of the stomach. Esophagogastroduodenoscopy revealed a type 3 tumor located from the esophagogastric junction to the fundus, and the pathological diagnosis by biopsy was NEC. The patient was treated with seven courses of cisplatin + irinotecan, followed by eight courses of ramucirumab + nab-paclitaxel, one course of nivolumab, and two courses of S-1 + oxaliplatin. Twenty-three months after the first treatment, the patient died because of disease progression and deterioration of the general condition.
This case of NEC occurring in a patient with TSC indicates a difference in the occurrence of NETs and NECs.
Core Tip: Although it has been reported that neuroendocrine tumors can merge with the tuberous sclerosis complex (TSC), the co-occurrence of neuroendocrine carcinoma (NEC) with TSC is rare. This is the first reported case of NEC occurring at the esophagogastric junction in a patient with TSC. This highly suggestive case indicates there is a difference in the occurrence of neuroendocrine tumors and NECs, which depends upon the pathogenesis of TSC developed despite inhibition of the AKT/mTOR pathway.