Experience of Uncommon EGFR Mutation in Lung Scheme Quality Program: Discussing Risks and Opportunities for the Improvement of Laboratory Response

Background The quality programs can be considered to be a valuable tool for global and individual growth. Each result, obtained by a single laboratory, contributes to define the standardization of the response. In the case of the uncommon epidermal growth factor receptor (EGFR) mutations, the molecu...

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Autores principales:	Alessandro Pancrazzi, Agostino Ognibene, Alice Moncada, Valerio Torre
Formato:	article
Lenguaje:	EN
Publicado:	Georg Thieme Verlag KG 2021
Materias:	uncommon egfr mutations tkis quality programs Genetics QH426-470 Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/db65eb245f784111913ef238de4903be
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spelling	oai:doaj.org-article:db65eb245f784111913ef238de4903be2021-12-01T23:41:03ZExperience of Uncommon EGFR Mutation in Lung Scheme Quality Program: Discussing Risks and Opportunities for the Improvement of Laboratory Response2699-940410.1055/s-0041-1732481https://doaj.org/article/db65eb245f784111913ef238de4903be2021-07-01T00:00:00Zhttp://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1732481https://doaj.org/toc/2699-9404Background The quality programs can be considered to be a valuable tool for global and individual growth. Each result, obtained by a single laboratory, contributes to define the standardization of the response. In the case of the uncommon epidermal growth factor receptor (EGFR) mutations, the molecular result is sometimes difficult to interpret in terms of biological significance and therapy choosing. The standardization effort in the diagnostic lung setting also consists of active quality program participation. Materials and Methods The quality control analysis, which is defined as a clinical case, was performed by the extraction of DNA from FFPE sections and by RT-PCR on the EGFR (exons 19, 20, 21), BRAF, and KRAS genes. The laboratory performed a validation sequencing of EGFR exon 20 with the help of the Sanger method. Results The laboratory reported positivity for EGFR exon 20 insertions and negative results for BRAF and KRAS. The quality test finished with the redaction of a report containing the recommendation to consider the efficacy of therapy with tyrosine kinase inhibitors (TKI). This specific interpretation has determined poor performance judgment by the quality provider, which explained why most of these mutations are TKI-resistant. Conclusions This experience provides an opportunity to reflect on the critical aspects of this diagnostic setting. The detection of some uncommon EGFR mutations should entail the mutation characterization, especially for the rare exon 20 insertions, of which are not classifiable as “resistant.” Moreover, this experience allows reflecting on the quality program design, mandatory actions for the laboratory, and routine activity in the oncologic multidisciplinary team.Alessandro PancrazziAgostino OgnibeneAlice MoncadaValerio TorreGeorg Thieme Verlag KGarticleuncommon egfr mutationstkisquality programsGeneticsQH426-470Neoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENGlobal Medical Genetics, Vol 08, Iss 04, Pp 171-175 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	uncommon egfr mutations tkis quality programs Genetics QH426-470 Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	uncommon egfr mutations tkis quality programs Genetics QH426-470 Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Alessandro Pancrazzi Agostino Ognibene Alice Moncada Valerio Torre Experience of Uncommon EGFR Mutation in Lung Scheme Quality Program: Discussing Risks and Opportunities for the Improvement of Laboratory Response
description	Background The quality programs can be considered to be a valuable tool for global and individual growth. Each result, obtained by a single laboratory, contributes to define the standardization of the response. In the case of the uncommon epidermal growth factor receptor (EGFR) mutations, the molecular result is sometimes difficult to interpret in terms of biological significance and therapy choosing. The standardization effort in the diagnostic lung setting also consists of active quality program participation. Materials and Methods The quality control analysis, which is defined as a clinical case, was performed by the extraction of DNA from FFPE sections and by RT-PCR on the EGFR (exons 19, 20, 21), BRAF, and KRAS genes. The laboratory performed a validation sequencing of EGFR exon 20 with the help of the Sanger method. Results The laboratory reported positivity for EGFR exon 20 insertions and negative results for BRAF and KRAS. The quality test finished with the redaction of a report containing the recommendation to consider the efficacy of therapy with tyrosine kinase inhibitors (TKI). This specific interpretation has determined poor performance judgment by the quality provider, which explained why most of these mutations are TKI-resistant. Conclusions This experience provides an opportunity to reflect on the critical aspects of this diagnostic setting. The detection of some uncommon EGFR mutations should entail the mutation characterization, especially for the rare exon 20 insertions, of which are not classifiable as “resistant.” Moreover, this experience allows reflecting on the quality program design, mandatory actions for the laboratory, and routine activity in the oncologic multidisciplinary team.
format	article
author	Alessandro Pancrazzi Agostino Ognibene Alice Moncada Valerio Torre
author_facet	Alessandro Pancrazzi Agostino Ognibene Alice Moncada Valerio Torre
author_sort	Alessandro Pancrazzi
title	Experience of Uncommon EGFR Mutation in Lung Scheme Quality Program: Discussing Risks and Opportunities for the Improvement of Laboratory Response
title_short	Experience of Uncommon EGFR Mutation in Lung Scheme Quality Program: Discussing Risks and Opportunities for the Improvement of Laboratory Response
title_full	Experience of Uncommon EGFR Mutation in Lung Scheme Quality Program: Discussing Risks and Opportunities for the Improvement of Laboratory Response
title_fullStr	Experience of Uncommon EGFR Mutation in Lung Scheme Quality Program: Discussing Risks and Opportunities for the Improvement of Laboratory Response
title_full_unstemmed	Experience of Uncommon EGFR Mutation in Lung Scheme Quality Program: Discussing Risks and Opportunities for the Improvement of Laboratory Response
title_sort	experience of uncommon egfr mutation in lung scheme quality program: discussing risks and opportunities for the improvement of laboratory response
publisher	Georg Thieme Verlag KG
publishDate	2021
url	https://doaj.org/article/db65eb245f784111913ef238de4903be
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Experience of Uncommon EGFR Mutation in Lung Scheme Quality Program: Discussing Risks and Opportunities for the Improvement of Laboratory Response

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