Gastric Adenocarcinoma in a Patient with Tuberous Sclerosis Complex: A Rare Case Report and Review of Literature
Ramya Ravichandar1, Rajam Krishna S2, Priya Sivashankar3, and Sujai Anand*4
Journal of Angiotherapy 6(1) 1-5 https://doi.org/10.25163/angiotherapy.61621802922221222
Submitted: 29 November 2021 Revised: 12 December 2021 Published: 05 January 2022
Abstract
Background: Tuberous sclerosis complex (TSC) is a genetic disorder characterized by benign tumors in multiple organ systems. Caused by mutations in TSC1 or TSC2 genes, TSC primarily leads to benign growths, but rare malignancies have been reported. Malignancies in TSC patients are uncommon, and the association with gastric adenocarcinoma is exceedingly rare. This report presents a case of gastric adenocarcinoma in a 42-year-old male with TSC, highlighting the need for awareness of potential malignancies in TSC patients. Method: The patient, a known case of TSC, presented with swelling in the left axilla, significant weight loss, and reduced appetite. An excision biopsy of the axillary lymph nodes was performed to evaluate the swelling. An upper gastrointestinal (UGI) endoscopy was conducted to identify the primary malignancy source. Results: Histopathological examination of the excised axillary lymph nodes revealed secondary deposits of adenocarcinoma. UGI endoscopy identified multiple polypoidal lesions in the stomach. Biopsy of these lesions confirmed poorly cohesive adenocarcinoma of the signet ring cell type, a subtype of diffuse-type gastric adenocarcinoma. Conclusion: This case illustrates a rare occurrence of gastric adenocarcinoma in a TSC patient, suggesting the possibility of an under-recognized association. Further studies are needed to explore this potential link, which could impact the surveillance and management of TSC patients, particularly those presenting with atypical symptoms.
Keywords: Tuberous sclerosis complex, Gastric adenocarcinoma, Signet ring cell carcinoma, mTOR pathway, Genetic disorder.
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