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©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
Tuberous sclerosis patient with neuroendocrine carcinoma of the esophagogastric junction: A case report
Natsuki Ishida, Takahiro Miyazu, Satoshi Tamura, Satoshi Suzuki, Shinya Tani, Mihoko Yamade, Moriya Iwaizumi, Satoshi Osawa, Yasushi Hamaya, Kazuya Shinmura, Haruhiko Sugimura, Katsutoshi Miura, Takahisa Furuta, Ken Sugimoto
Natsuki Ishida, Takahiro Miyazu, Satoshi Tamura, Mihoko Yamade, Yasushi Hamaya, Ken Sugimoto, First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan
Satoshi Suzuki, Shinya Tani, Satoshi Osawa, Department of Endoscopic and Photodynamic Medicine, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan
Moriya Iwaizumi, Department of Laboratory Medicine, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan
Kazuya Shinmura, Haruhiko Sugimura, Department of Tumor Pathology, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan
Katsutoshi Miura, Department of Health Science, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan
Takahisa Furuta, Center for Clinical Research, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan
Author contributions: Ishida N and Sugimoto K wrote the manuscript; Miyazu T, Tamura S, Suzuki S, Tani S, Yamade M, Iwaizumi M, Hamaya Y, Osawa S, and Furuta T contributed to the manuscript design and coordination; Shinmura K, Sugimura H, and Miura K contributed to the pathological examination.
Informed consent statement: The patient provided written informed consent.
Conflict-of-interest statement: The authors declare that there are no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
http://creativecommons.org/Licenses/by-nc/4.0/ Corresponding author: Ken Sugimoto, MD, PhD, Associate Professor, First Department of Medicine, Hamamatsu University School of Medicine, 1-20-1, Handayama, Hamamatsu 431-3192, Japan. sugimken@hama-med.ac.jp
Received: September 3, 2020
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
BACKGROUND
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.
CASE SUMMARY
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.
CONCLUSION
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.
