Abstract 244P
Background
Primary neuroendocrine carcinoma of the gastrointestinal tract (GI-NEC) is a rare disease with no established effective treatment. This study investigated the utility of comprehensive genomic profiling (CGP) testing for GI-NEC.
Methods
We analyzed 203 cases who were diagnosed with primary GI-NEC and were registered in the Center for Cancer Genomics and Advanced Therapeutics (C-CAT) utilization portal between June 2019 and June 2024. Clinical and pathological features, as well as genomic profiling results, were examined to determine their association with prognosis.
Results
The median age of all cases was 68 years, with 144 males and 59 females. Performance status was 0 in 122 cases, 1 in 67 cases, 2 in 4 cases, and unknown in 10 cases. Target Sequencing panels (124-737 genes) were used to detect driver mutations. Genes with frequently observed variants were TP53 (83%), RB1 (32%), APC (31%), CCNE1 (19%), MYC (18%), and KRAS (17%). Multivariate analysis using the Cox proportional hazards model revealed that MYC mutations (HR 3.2, 95% CI 1.6-6.6) and KRAS mutations (HR 2.4, 95% CI 1.2-4.7) were significant prognostic factors. Druggable variants (such as KRAS, CDKN2A, and BRAF mutation) were identified in 74 cases (36%), and 15 cases (7.4%) received corresponding treatments.
Conclusions
The CGP testing for GI-NEC may be useful for identifying effective treatment options and predicting prognosis. Thus, Implementing the CGP test at the time of diagnosis is expected to broaden the range of treatment strategies for GI-NEC patients.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
The authors.
Funding
Has not received any funding.
Disclosure
S. Toyooka: Financial Interests, Personal, Other, Lecture fee: Chugai Pharmaceutical Co., Ltd. and Guardant Health, Inc. All other authors have declared no conflicts of interest.