Genomic profiling of intestinal/mixed‐type superficial non‐ampullary duodenal epithelial tumors

Abstract

Background and Aim The mechanism underlying carcinogenesis and the genomic features of superficial non‐ampullary duodenal epithelial tumors (SNADETs) have not been elucidated in detail. In this study, we examined the genomic features of incipient SNADETs, such as small lesions resected via endoscopic treatment, using next‐generation sequencing (NGS). Methods Twenty consecutive patients who underwent endoscopic treatment for SNADETs of less than 20 mm between January and December 2017 were enrolled. Targeted genomic sequencing was performed through NGS using a panel of 160 cancer‐related genes. Furthermore, the alteration/mutation frequencies in SNADETs were examined. Results The maximum size of the SNADETs examined in this study was 12 mm in diameter. Five SNADETs were classified as low‐grade dysplasia (LGD) tumors, while 14 SNADETs were classified as high‐grade dysplasia tumors. Only one carcinoma in situ was detected. NGS data for 16 samples were obtained. APC alterations were detected in 81% of samples (13/16). KRAS, BRAF, and TP53 alterations were detected in 25% (4/16), 18.8% (3/16), and 6.3% (1/16) of cases, respectively. Conclusion We detected APC alterations in most small SNADETs resected via endoscopic treatment, from LGD to carcinoma samples. Even in SNADETs classified as small LGD exhibited KRAS and BRAF alterations.

Underwater Endoscopic Mucosal Resection Versus Conventional Endoscopic Mucosal Resection for Superficial Non-ampullary Duodenal Epithelial Tumors ≤20 mm

“…Given the adenoma-carcinoma sequence and the poor prognosis of advanced duodenal tumors, early detection and treatment can significantly improve the survival rate of patients. 3,4 For cases of SNA-DETs with a negligible risk of lymph node metastasis, local treatments such as endoscopic resection is considered to be a feasible therapeutic modality. This minimally invasive approach can provide a better health-related quality of life compared with traditional surgical interventions such as pancreatoduodenectomy.…”

“…The detection rate of superficial non-ampullary duodenal epithelial tumors (SNADETs) has been remarkably increasing over the past 2 decades, 1,2 although several critical issues concerning the exact pathogenesis, appropriate treatment strategies, and clinical prognosis of this rare entity remain largely unclear. Given the adenoma-carcinoma sequence and the poor prognosis of advanced duodenal tumors, early detection and treatment can significantly improve the survival rate of patients 3,4 . For cases of SNADETs with a negligible risk of lymph node metastasis, local treatments such as endoscopic resection is considered to be a feasible therapeutic modality.…”