Your browser doesn't support javascript.
loading
High success rate of first proficiency testing for RET fusions and RET mutations in lung and thyroid cancer samples by various methods.
Siebolts, Udo; Pappesch, Roberto; Bauer, Marcus; Dietmaier, Wolfgang; Ernst, Mareike; Haak, Anja; Hartmann, Nils; Ilm, Katharina; Kalbourtzis, Stavros; Krause, Thomas; Kazdal, Daniel; Schorle, Hubert; Utpatel, Kirsten; Merkelbach-Bruse, Sabine.
Afiliación
  • Siebolts U; Faculty of Medicine and University Hospital Cologne, Institute of Pathology, University of Cologne, Cologne, Germany.
  • Pappesch R; Faculty of Medicine and University Hospital Cologne, Institute of Pathology, University of Cologne, Cologne, Germany.
  • Bauer M; Institute of Pathology, University Hospital Halle (Saale), Martin Luther University Halle-Wittenberg, Halle, Germany.
  • Dietmaier W; Institute of Pathology, University of Regensburg, Regensburg, Germany.
  • Ernst M; Institute of Pathology, University Hospital Bonn, Bonn, Germany.
  • Haak A; Institute of Pathology, University Hospital Halle (Saale), Martin Luther University Halle-Wittenberg, Halle, Germany.
  • Hartmann N; Institute of Pathology, University Hospital Mainz, Mainz, Germany.
  • Ilm K; QuIP Ltd, Berlin, Germany.
  • Kalbourtzis S; University Hospital Essen, Essen, Germany.
  • Krause T; Eli Lilly and Company, Indianapolis, IN, USA.
  • Kazdal D; Institute of Pathology, Heidelberg University Hospital, 69120, Heidelberg, Germany.
  • Schorle H; Center for Personalized Medicine (ZPM) Heidelberg, 69120, Heidelberg, Germany.
  • Utpatel K; German Center for Lung Research (DZL), Heidelberg Site, 69120, Heidelberg, Germany.
  • Merkelbach-Bruse S; Institute of Pathology, University Hospital Bonn, Bonn, Germany.
Virchows Arch ; 485(3): 519-526, 2024 Sep.
Article en En | MEDLINE | ID: mdl-39120655
ABSTRACT
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 (Qualitätssicherungs-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.
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias de la Tiroides / Carcinoma Neuroendocrino / Proteínas Proto-Oncogénicas c-ret / Secuenciación de Nucleótidos de Alto Rendimiento / Neoplasias Pulmonares / Mutación Límite: Humans Idioma: En Revista: Virchows Arch Asunto de la revista: BIOLOGIA MOLECULAR / PATOLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Alemania
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias de la Tiroides / Carcinoma Neuroendocrino / Proteínas Proto-Oncogénicas c-ret / Secuenciación de Nucleótidos de Alto Rendimiento / Neoplasias Pulmonares / Mutación Límite: Humans Idioma: En Revista: Virchows Arch Asunto de la revista: BIOLOGIA MOLECULAR / PATOLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Alemania