Siebolts, Udo and Pappesch, Roberto and Bauer, Marcus and Dietmaier, Wolfgang and Ernst, Mareike and Haak, Anja and Hartmann, Nils and Ilm, Katharina and Kalbourtzis, Stavros and Krause, Thomas and Kazdal, Daniel and Schorle, Hubert and Utpatel, Kirsten and Merkelbach-Bruse, Sabine (2024) High success rate of first proficiency testing for RET fusions and RET mutations in lung and thyroid cancer samples by various methods. VIRCHOWS ARCHIV, 485 (3). pp. 519-526. ISSN 0945-6317, 1432-2307
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This study describes the external quality assessment (EQA) scheme for molecular testing of RET alterations in non-small cell lung cancer (NSCLC), medullary thyroid carcinomas (MTC), and non-MTC. The lead panel institute and Quality Assurance Initiative in Pathology (Qualit & auml;tssicherungs-Initiative Pathologie [QuIP] GmbH) selected formalin-fixed paraffin-embedded (FFPE) tissue from MTC for RET mutation testing by next-generation sequencing (NGS) methods and FFPE tissue from NSCLC and non-MTC for RET gene fusion testing using either in situ hybridisation (ISH) or NGS methods, forming 3 sub-schemes of the EQA scheme. Tissue material underwent an internal validation phase followed by an external testing phase. The internal validation phase served as a cross-validation step conducted by panel institutes. In the external testing phase, the number of participating institutes in the RET point mutation sub-scheme, RET fusion (ISH) sub-scheme, and RET fusion (NGS) sub-scheme was 32, 24, and 38, respectively. The reported success rates for external testing were 96.0%, 89.5%, and 93.5% for the RET point mutation, the ISH RET fusion, and the NGS RET fusion EQA sub-schemes, respectively. These findings confirm the reliability of the NGS method in detecting RET alterations and align with current screening recommendations. Overall, 31 institutes were certified for RET point mutation testing by NGS methods, 22 institutes were certified for RET fusion testing by ISH, and 36 institutes were certified for RET fusion testing by NGS methods. Results can be employed to inform real-world diagnostic decisions in Germany, Austria, and Switzerland.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | ; RET fusions; RET point mutations; External quality assessment schemes; Medullary thyroid carcinomas; Non-small cell lung cancer |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Pathologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 17 Dec 2025 09:57 |
| Last Modified: | 17 Dec 2025 09:57 |
| URI: | https://pred.uni-regensburg.de/id/eprint/65244 |
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