Data from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out

• DOI: 10.1158/0008-5472.c.6499770.v1
• Publication Date: 2023-03-31T01:46:05Z
• Authors: Hartmut P.H. Neumann; Zoran Erlic; Carsten C. Boedeker; Lisa A. Rybicki; Mercedes Robledo; Mario Hermsen; Francesca Schiavi; Maurizio Falcioni; Pingling Kwok; Catherine Bauters; Karen Lampe; Markus Fischer; Emily Edelman; Diana E. Benn; Bruce G. Robinson; Stefanie Wiegand; Gerd Rasp; Boris A. Stuck; Michael M. Hoffmann; Maren Sullivan; Maria A. Sevilla; Marjan M. Weiss; Mariola Peczkowska; Agata Kubaszek; Pascal Pigny; Robyn L. Ward; Diana Learoyd; Michael Croxson; Dmitry Zabolotny; Svetlana Yaremchuk; Wolfgang Draf; Mihaela Muresan; Robert R. Lorenz; Stephan Knipping; Michael Strohm; Gerhard Dyckhoff; Christoph Matthias; Nicole Reisch; Simon F. Preuss; Dirk Eβer; Martin A. Walter; Holger Kaftan; Timo Stöver; Christian Fottner; Harald Gorgulla; Mahdi Malekpour; Masoud Motasaddi ...; Jörg Schipper; Christoph Brase; Alexander Glien; Matthias Kühnemund; Sven Koscielny; Peter Schwerdtfeger; Matti Välimäki; Witold Szyfter; Ulrich Finckh; Klaus Zerres; Alberto Cascon; Giuseppe Opocher; Gerd J. Ridder; Andrzej Januszewicz; Carlos Suarez; Charis Eng
• Keywords: SDHD; SDHB

<div>Abstract<p>Multiple genes and their variants that lend susceptibility to many diseases will play a major role in clinical routine. Genetics-based cost reduction strategies diagnostic processes are important the setting of multiple for single disease. Head neck paraganglioma (HNP) is caused by germline mutations at least three succinate dehydrogenase subunit (<i>SDHx</i>). Mutation analysis all 3 costs ∼US$2,700 per patient. Genetic classification essential downstream management patient preemptive family members. Utilizing HNP as model, we wanted determine predictors prioritize most heritable presentations which gene begin testing presentations, reduce genetic screening. Patients were tested <i>SDHB, SDHC</i>, <i>SDHD</i> intragenic large deletions. Clinical parameters analyzed potential finding mutations. Cost was calculated between prioritized compared with genes. Of 598 patients, 30.6% had <i>SDHx</i> mutations: 34.4% <i>SDHB</i>, 14.2% <i>SDHC</i>, 51.4% <i>SDHD</i>. Predictors an mutation history [odds ratio (OR), 37.9], previous pheochromocytoma (OR, 10.9), 10.6), age ≤40 years 4.0), male gender 3.5). By screening only preselected cases stepwise approach, 60% can be achieved, 91.8% sensitivity 94.5% negative predictive value. Our data give evidence predict help HNP. Such strategy cost-saving practice genetics-based personalized health care. [Cancer Res 2009;69(8):3650–6]</p></div>