NANETS2025 18th Annual Multidisciplinary NET Medical Symposium NANETS 2025 Other Section (13 abstracts)
Analysis of patient selection for germline testing in early-onset gastroenteropancreatic neuroendocrine neoplasms (GEPNENs) at a single institution
Lizeth Estrada 1 , Bryan Khuong Le 2 , Li Zhang 1,3 , Alan Paciorek 2,3 , Claire Mulvey 2,4 & Emily Bergsland 4
1School of Medicine, University of California San Francisco, San Francisco, CA; 2Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA; 3Department of Epidemiology and Biostatistics, University of California San Francisco, San Francisco, CA; 4Department of Medicine, Division of Hematology/Oncology, University of California San Francisco, San Francisco, CA
Background: In our previous work, we found a high rate of pathogenic/likely pathogenic germline mutations (PGM) in patients with early-onset GEPNENs (EO-GEPNENs) at UCSF, particularly in pancreatic primaries. However, germline testing practices in EO-GEPNENs have not been standardized. Testing has historically been driven by clinical factors, patient preference, and insurance coverage, but the process is prone to bias and relies on subjective provider assessment. This study characterizes the clinicodemographic features of EO-GEPNEN patients who underwent testing versus those who did not.
Methods: In this IRB-approved study, we identified 252 EO-GEPNEN patients (age 18–49 at diagnosis, any stage/grade) from 2011–2023. Group differences in categorical and continuous variables were assessed using the Chi-squared and Wilcoxon tests.
Results: Of 252 patients with EO-GEPNENs, 109 (43%) underwent germline testing. Among them, 29 (27%) had a PGM. Tested patients had a median age of 42 years at diagnosis, 55% female, 47% locoregional disease, and 92% well-differentiated tumors. Additional clinicodemographic features are in Table 1:
| Characteristic | Not Tested (n = 143, 56.7%) | Tested (n = 109, 43.3%) | P Value |
| Age (median [IQR]) | 42.00 [36.00, 46.00] | 43.00 [35.00, 47.00] | 0.914 |
| Sex Female Male | 78 (54.5) 65 (45.5) | 60 (55.0) 49 (45.0) | 1 |
| Race White Non-White | 86 (66.7) 43 (33.3) | 82 (78.1) 23 (21.9) | 0.074 |
| Suspected genetic syndrome | 10 (9.2) | 21 (19.3) | 0.052 |
| Other cancers besides NEN | 14 (10.3) | 18 (17.1) | 0.173 |
| Primary Tumor Site GI Pancreas | 70 (49.0) 73 (51.0) | 50 (45.9)59 (54.1) | 0.721 |
| Grade at Diagnosis G1/G2 NET G3 NET G3 NEC Unknown | 108 (75.5) 3 (2.1) 8 (5.6) 24 (16.7) | 82 (75.2) 12 (11) 6 (5.5) 9 (8.3) | 0.036 |
| Metastatic Disease | 79 (56.4) | 82 (75.2) | 0.003 |
Conclusions: EO-GEPNEN incidence is rising, but its association with PGMs is unclear. At UCSF, 43.3% of patients underwent germline testing, with 26.6% harboring a PGM. The tested population was enriched for G3 and stage IV disease, with no significant differences in age, sex, site, second cancers, or race, though our data suggest more suspected genetic syndromes in tested patients and more non-White patients in the non-tested group. Clinicodemographic features by PGM status will be presented. Further work is needed to define testing indications and assess downstream implications.
Abstract ID #33483
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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