Clinical outcome of Brazilian patients with non-small cell lung cancer in early stage harboring rare mutations in epidermal growth factor receptor

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dc.contributor.authorMachado-Rugolo, J. [UNESP]
dc.contributor.authorBaldavira, C. M.
dc.contributor.authorPrieto, T. G.
dc.contributor.authorOlivieri, E. H.R.
dc.contributor.authorFabro, A. T.
dc.contributor.authorRainho, C. A. [UNESP]
dc.contributor.authorCastelli, E. C. [UNESP]
dc.contributor.authorRibolla, P. E.M. [UNESP]
dc.contributor.authorAb’saber, A. M.
dc.contributor.authorTakagaki, T.
dc.contributor.authorNagai, M. A.
dc.contributor.authorCapelozzi, V. L.
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversidade Estadual Paulista (UNESP)
dc.contributor.institutionAC Camargo Cancer Center
dc.contributor.institutionInstituto do Câncer de São Paulo
dc.date.accessioned2023-07-29T13:34:45Z
dc.date.available2023-07-29T13:34:45Z
dc.date.issued2022-01-01
dc.description.abstractThe common epidermal growth factor receptor (EGFR) mutations, such as the L858R point mutation in exon 21 and the in-frame deletional mutation in exon 19, have been definitively associated with response to EGFR-tyrosine kinase inhibitors (EGFR-TKI). However, the clinical outcome and response to treatment for many other rarer mutations are still unclear. In this study, we report the results of Brazilian patients in stage IB–IIIA non-small cell lung cancer (NSCLC) following complete resection with minimal residual disease and EGFR mutations treated with adjuvant chemotherapy and/or EGFR-TKIs. The frequency of EGFR mutations was investigated in 70 cases of early stage NSCLC. Mutations in exons 18 and 20, uncommon mutations in exons 19 and 21, as well as in exons 3, 7, 14, 16, 22, 27, and 28, and/or the presence of different mutations in a single tumor (complex mutations) are considered rare. EGFR mutations were detected in 23 tumors (32.9%). Fourteen cases carried rare mutations and were treated with platinum-based chemotherapy and two cases were treated with erlotinib. The clinical outcome is described case by case with references to the literature. Notably, we found two rare EGFR mutations and one of them with an unknown response to chemotherapy and/or EGFR-TKIs. We have provided complementary information concerning the clinical outcome and treatment of patients with early stage NSCLC for several rare EGFR mutations not previously or only rarely reported. Description of cases harboring rare mutations can support the decision-making process in this subset of patients.en
dc.description.affiliationLaboratório de Histomorfometria e Genômica Pulmonar Departamento de Patologia Faculdade de Medicina Universidade de São Paulo, SP
dc.description.affiliationCentro de Avaliac¸ão de Tecnologias em Saúde Hospital das Clínicas de Botucatu Faculdade de Medicina Universidade Estadual Paulista, SP
dc.description.affiliationCentro Internacional de Pesquisa/CIPE AC Camargo Cancer Center, SP
dc.description.affiliationDepartamento de Patologia e Medicina Legal Laboratório de Medicina Respiratória Faculdade de Medicina de Ribeirão Preto Universidade de São Paulo, SP
dc.description.affiliationInstituto de Biociências Departamento de Ciências Químicas e Biológicas Universidade Estadual Paulista, SP
dc.description.affiliationLaboratório de Genética Molecular e Bioinformática Unidade de Pesquisa Experimental Faculdade de Medicina Universidade Estadual Paulista, SP
dc.description.affiliationDepartamento de Patologia Faculdade de Medicina Universidade Estadual Paulista, SP
dc.description.affiliationInstituto de Biotecnologia Universidade Estadual Paulista, SP
dc.description.affiliationInstituto de Biociências Departamento de Bioestatística Biologia Vegetal Parasitologia e Zoologia Universidade Estadual Paulista, SP
dc.description.affiliationDivisão de Pneumologia Instituto do Coracão Faculdade de Medicina Universidade de São Paulo, SP
dc.description.affiliationDepartamento de Radiologia e Oncologia Faculdade de Medicina Universidade de São Paulo, SP
dc.description.affiliationLaboratório de Genética Molecular Centro de Pesquisa Translacional em Oncologia Instituto do Câncer de São Paulo, SP
dc.description.affiliationUnespCentro de Avaliac¸ão de Tecnologias em Saúde Hospital das Clínicas de Botucatu Faculdade de Medicina Universidade Estadual Paulista, SP
dc.description.affiliationUnespInstituto de Biociências Departamento de Ciências Químicas e Biológicas Universidade Estadual Paulista, SP
dc.description.affiliationUnespLaboratório de Genética Molecular e Bioinformática Unidade de Pesquisa Experimental Faculdade de Medicina Universidade Estadual Paulista, SP
dc.description.affiliationUnespDepartamento de Patologia Faculdade de Medicina Universidade Estadual Paulista, SP
dc.description.affiliationUnespInstituto de Biotecnologia Universidade Estadual Paulista, SP
dc.description.affiliationUnespInstituto de Biociências Departamento de Bioestatística Biologia Vegetal Parasitologia e Zoologia Universidade Estadual Paulista, SP
dc.identifierhttp://dx.doi.org/10.1590/1414-431X2022e12409
dc.identifier.citationBrazilian Journal of Medical and Biological Research, v. 55.
dc.identifier.doi10.1590/1414-431X2022e12409
dc.identifier.issn1414-431X
dc.identifier.scopus2-s2.0-85145230049
dc.identifier.urihttp://hdl.handle.net/11449/248111
dc.language.isoeng
dc.relation.ispartofBrazilian Journal of Medical and Biological Research
dc.sourceScopus
dc.subjectErlotinib
dc.subjectLung cancer
dc.subjectNext generation sequencing
dc.subjectPlatinum-based chemotherapy
dc.subjectRare EGFR mutation
dc.titleClinical outcome of Brazilian patients with non-small cell lung cancer in early stage harboring rare mutations in epidermal growth factor receptoren
dc.typeArtigo

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