RESUMO
PURPOSE: Biomarkers as screening for precision medicine is a fundamental step. The purpose of this article is twofold. First, to highlight the existing barriers in the implementation of Precision Medicine in Spain, with a special emphasis on barriers in access to the determination of biomarkers. Second, to provide a Roadmap that can help implement Precision Medicine equitably at the national level and optimize the use of biomarkers. METHODS: A systematic review of literature (SRL) and a focus group (FG) with multidisciplinary experts has been carried out in 2023. Participants were contacted individually, and discourse analysis was processed anonymously. RESULTS: We carried out a quantitative (SRL) and a qualitative approach (FG). The discourse analysis and roadmap were sent individually to each expert for approval. CONCLUSIONS: The potential of Precision Medicine has not been fulfilled in Spain. While several regional initiatives are in place, a national plan or strategy around Precision Medicine and use of biomarkers is lacking. In a general context of rapid progress at a global and European level, including the 2021 Europe's Beating Cancer Plan, it is time to define and implement a National Plan to make the promise come true. While some comparable countries within Europe - such as the UK or France - are mature enough to adopt such strategies, in Spain there is still a long way to go. We consider that the different strands of work outlined in the Roadmap can be used as basis for such purpose.
Assuntos
Biomarcadores Tumorais , Oncologia , Neoplasias , Medicina de Precisão , Humanos , Espanha , Biomarcadores Tumorais/análise , Neoplasias/diagnóstico , Grupos FocaisRESUMO
After undergoing remodeling, uterine spiral arteries turn into wide, flexible tubes, with low resistance. If remodeling does not occur, spontaneous abortions, intrauterine growth restriction, and pregnancy-related hypertensive disorders can ensue. Arterial transformation begins at a very early gestational stage; however, second quarter pregnancy histopathological samples have yet to pinpoint the exact moment when abnormal remodeling transpires. We examined 100 samples, taken from consecutive abortions at 12-23 gestational weeks. Following Pijnenborg and Smith guidelines, blinded pathologists analyzed clinical data on remodeling stages. Lab results showed that arterial remodeling is not synchronic in all vessels; a single sample can include various remodeling stages; neither is remodeling homogenous in a single vessel: change may be occurring in one part of the vessel, but not in another. To our knowledge, no one has published this finding. In the examined age group, Smith stage IV predominates; around week 14, substantial muscle and endothelium loss takes place. After week 17, endovascular or fibrin trophoblast does not usually occur. Although scant consensus exists on what defines preeclampsia etiology, it is clear that it involves abnormal remodeling in decidua vessels. Improved understanding requires further knowledge on both the physiological and pathological aspects of the remodeling process. We observed that muscle and endothelial tissues disappear from weeks 14-17, after which time reendothelization predominates. We list the expected proportion of spiral artery changes for each gestational age which, to date, has not been available.
Assuntos
Placenta/fisiopatologia , Artéria Uterina/fisiopatologia , Remodelação Vascular/fisiologia , Adolescente , Adulto , Decídua/patologia , Decídua/fisiopatologia , Feminino , Humanos , Placenta/patologia , Pré-Eclâmpsia/patologia , Pré-Eclâmpsia/fisiopatologia , Gravidez , Segundo Trimestre da Gravidez , Trofoblastos/patologia , Artéria Uterina/patologia , Adulto JovemRESUMO
Thirteen cases of primary pulmonary adenofibromas are presented. The patients are 8 women and 5 men between the ages of 41 and 73 years (average: 57 y). The patients presented with nonspecific symptomatology or their tumor was identified during routine chest films. A wedge resection was performed in all cases with lymph node sampling. Grossly, the tumors varied in size from 1 to 2.5 cm in greatest dimension. The entire tumor was histologically evaluated in all cases. All the tumors shared similar histologic features namely leaf-like/phyllodes-like growth patterns with varying areas of sclerosis, focal inflammation, and entrapped epithelium. A wide panel of immunohistochemical studies was performed including epithelial, neural, muscle, and vascular markers, all of which showed negative staining. The tumors were positive only for vimentin in the stroma and keratin in the entrapped epithelium. Further evaluation in 6 cases using in situ hybridization for the solitary fibrous tumor was performed and was negative. Clinical follow-up in all the patients showed no evidence of recurrence or metastatic disease, during a period of 12 to 36 months. The current cases highlight the unusual occurrence of pulmonary adenofibromas and the importance of separating these tumors from other tumors that may have the potential to recur or metastasize. The use of proper immunohistochemical stains/molecular analysis aids in the proper classification of these tumors.
Assuntos
Adenofibroma/diagnóstico , Adenofibroma/patologia , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/patologia , Adenofibroma/metabolismo , Adenofibroma/cirurgia , Adulto , Idoso , Biomarcadores Tumorais/metabolismo , Feminino , Seguimentos , Humanos , Imuno-Histoquímica , Neoplasias Pulmonares/metabolismo , Neoplasias Pulmonares/cirurgia , Masculino , Pessoa de Meia-Idade , Pneumonectomia , PrognósticoRESUMO
This consensus statement, conceived as a joint initiative of the Spanish Society of Pathology and the Spanish Society of Medical Oncology, makes diagnostic and treatment recommendations for the management of patients with hereditary, localised and advanced CRC based on the current scientific evidence on biomarker use. This consensus statement thus provides an opportunity to improve healthcare efficiency and resource use, which will benefit these patients. Based on the currently available data on this subject, this expert group recommends testing for microsatellite instability (MSI) in patients with localised CRC, as this is a strong predictive factor for deciding on adjuvant treatment. However, although the ColoPrint(®) and Oncotype Dx(®) gene expression signatures have been shown to have prognostic value, no consensus yet exists concerning their use in clinical practice. For advanced CRC, it is essential to test for KRAS mutation status before administering an anti-EGFR treatment, such as cetuximab or panitumumab. However, testing for other biomarkers, such as BRAF, EGFR, PI3K and PTEN mutations, should not be done routinely, because this does not influence treatment planning at the present time. Other important issues addressed include organisational requirements and the quality controls needed for proper testing of these biomarkers as well as the legal implications to be borne in mind when testing some biomarkers.
Assuntos
Biomarcadores Tumorais/análise , Carcinoma/diagnóstico , Neoplasias Colorretais/diagnóstico , Consenso , Técnicas e Procedimentos Diagnósticos , Guias de Prática Clínica como Assunto , Algoritmos , Biomarcadores Tumorais/genética , Carcinoma/genética , Neoplasias Colorretais/genética , Humanos , Oncologia/legislação & jurisprudência , Oncologia/organização & administração , Instabilidade de Microssatélites , Patologia Clínica/legislação & jurisprudência , Patologia Clínica/organização & administração , Prognóstico , Sociedades Médicas/legislação & jurisprudência , Sociedades Médicas/organização & administração , EspanhaRESUMO
Endometrial cancer (EC) is the most common gynecologic malignancy of the female genital tract and the fourth most common neoplasia in women. In EC, myometrial invasion is considered one of the most important prognostic factors. For this process to occur, epithelial tumor cells need to undergo an epithelial to mesenchymal transition (EMT), either transiently or stably, and to differing degrees. This process has been extensively described in other types of cancer but has been poorly studied in EC. In this review, several features of EMT and the main molecular pathways responsible for triggering this process are investigated in relation to EC. The most common hallmarks of EMT have been found in EC, either at the level of E-cadherin loss or at the induction of its repressors, as well as other molecular alterations consistent with the mesenchymal phenotype-like L1CAM and BMI-1 up-regulation. Pathways including progesterone receptor, TGFß, ETV5 and microRNAs are deeply related to the EMT process in EC.
Assuntos
Carcinoma/patologia , Neoplasias do Endométrio/patologia , Transição Epitelial-Mesenquimal/genética , Carcinoma/genética , Transformação Celular Neoplásica/genética , Transformação Celular Neoplásica/patologia , Neoplasias do Endométrio/genética , Transição Epitelial-Mesenquimal/fisiologia , Feminino , Humanos , MicroRNAs/genética , MicroRNAs/fisiologia , Modelos Biológicos , Invasividade Neoplásica , Receptores de Progesterona/genética , Receptores de Progesterona/fisiologia , Transdução de Sinais/genéticaRESUMO
The identification of HER2 alterations in advanced gastric carcinomas is of critical importance in daily clinical practice as such neoplasms require specific treatment with trastuzumab. For these reasons, pathologists and oncologists with expertise in gastric carcinomas and HER2 testing from both organisations (SEAP and SEOM) have endeavoured to discuss and agree on national guidelines for HER2 testing in gastric carcinomas. These guidelines are based on the experience of those who participated in the discussions and also on experience published internationally. These agreed guidelines give the minimum requirements that a pathological anatomy laboratory must fulfil in order to guarantee adequate HER2 testing in daily practice. Any laboratories which do not meet the minimum standards set out in the guidelines must make every effort to achieve compliance.
Assuntos
Carcinoma/genética , Consenso , Genes erbB-2 , Testes Genéticos/métodos , Testes Genéticos/estatística & dados numéricos , Neoplasias Gástricas/genética , Algoritmos , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/genética , Carcinoma/diagnóstico , Carcinoma/patologia , Técnicas de Laboratório Clínico/métodos , Ensaios Clínicos como Assunto , Genes erbB-2/genética , Humanos , Oncologia/legislação & jurisprudência , Oncologia/métodos , Oncologia/organização & administração , Patologia Molecular/legislação & jurisprudência , Patologia Molecular/métodos , Patologia Molecular/organização & administração , Guias de Prática Clínica como Assunto , Sociedades Médicas/legislação & jurisprudência , Espanha , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/patologiaRESUMO
Identifying breast cancers with HER2 overexpression or amplification is critical as these usually imply the use of HER2-targeted therapies. DNA (amplification) and protein (overexpression) HER2 abnormalities usually occur simultaneously and both in situ hybridisation and immunohistochemistry may be accurate methods for the evaluation of these abnormalities. However, recent studies, including those conducted by the Association for Quality Assurance of the Spanish Society of Pathology, as well as the experience of a number of HER2 testing National Reference Centres have suggested the existence of serious reproducibility issues with both techniques. To address this issue, a joint committee from the Spanish Society of Pathology (SEAP) and the Spanish Society of Medical Oncology (SEOM) was established to review the HER2 testing guidelines. Consensus recommendations are based not only on the panellists' experience, but also on previous consensus guidelines from several countries, including the USA, the UK and Canada. These guidelines include the minimal requirements that pathology departments should fulfil in order to guarantee proper HER2 testing in breast cancer. Pathology laboratories not fulfilling these standards should make an effort to meet them and, until then, are highly encouraged to submit to reference laboratories breast cancer samples for which HER2 determination has clinical implications for the patients.