Data from Germline Testing Identifies Pathogenic/Likely Pathogenic Variants in Patients with Pancreatic Neuroendocrine Tumors

• DOI: 10.1158/1940-6207.c.7311482
• Publication Date: 2024-07-02T10:46:12Z
• Authors: Chirayu Mohindroo; Seyda Baydogan; Parul Agarwal; Robin D. Wright; Laura R. Prakash; Maureen E. Mork; Alison P. Klein; Daniel A. Laheru; Jessica E. Maxwell; Matthew H.G. Katz; Arvind Dasari; Michael P. Kim; Jin He; Florencia McAllister; Ana De Jesus-Acosta
• Keywords: MEN1

<div>Abstract<p>Ten percent of pancreatic neuroendocrine tumors (pNET) are related to inherited syndromes (<i>MEN1</i>, <i>MEN4</i>, <i>VHL</i>, <i>NF1</i>, and <i>TSC</i>). Growing evidence suggests that clinically sporadic pNETs can also harbor germline pathogenic variants. In this study, we report the prevalence pathologic/likely pathologic (P/LP) variants in a high-risk cohort an unselected cohort. We collected clinical data patients with seen at MD Anderson Cancer Center Johns Hopkins Hospital. The included (<i>n</i> = 132) who underwent testing for criteria (early onset, personal or family history cancer, syndromic features) between 2013 2019. 106) Hospital following their diagnosis 2020 2022. 132), 33% 44) had P/LP majority <i>MEN1</i> 56% 25), followed by DNA repair pathways 18% 8), 7% 3) MSH2 (Lynch syndrome). Patients were younger (45 vs. 50 years; <i>P</i> 0.002). 106), 21% 22) P/LP. noted 40% 9) 36% 8). Multifocal correlated presence (<i>P</i> 0.0035). age (40 56 0.0012), multifocal < 0.0001), World Health Organization grade 1 histology 0.0078). prevalent pNET irrespective features. findings support upfront universal all pNET.</p><p><b>Prevention Relevance:</b> Here, present from largest reported 238), comprising both cohorts, identify high number P/LPs, including those pathway. Our pNET.</p></div>