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1.
Biomed Res Int ; 2020: 8397053, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33029526

RESUMO

Introduction: The Portuguese healthcare system had to adapt at short notice to the COVID-19 pandemic. We implemented workflow changes to our molecular pathology laboratory, a national reference center, to maximize safety and productivity. We assess the impact this situation had on our caseload and what conclusions can be drawn about the wider impact of the pandemic in oncological therapy in Portugal. Material and Methods. We reviewed our database for all oncological molecular tests requested between March and April of 2019 and 2020. For each case, we recorded age, sex, region of the country, requesting institution, sample type, testing method, and turnaround time (TAT). A comparison between years was made. Results: The total number of tests decreased from 421 in 2019 to 319 in 2020 (p = 0.0027). The greatest reduction was in clinical trial-related cases. Routine cases were similar between years (267 vs. 256). TAT was higher in 2019 (mean 15 days vs. 12.3 days; p = 0.0003). Medium- to large-sized public hospitals in the north of the country were mostly responsible for the reduction in cases (p = 0.0153). Conclusions: Case reduction was observed at hospitals that have mostly been involved in the treatment of COVID-19 and in the north of the country, the region worst-hit by the pandemic. Similar to other studies, our TAT decreased, even with a similar number of routine cases. Thus, we conclude that it is possible to successfully adapt the workflow of a molecular pathology laboratory to new safety standards without losing efficiency.


Assuntos
Infecções por Coronavirus/epidemiologia , Oncologia , Técnicas de Diagnóstico Molecular , Patologia Molecular , Pneumonia Viral/epidemiologia , Betacoronavirus , Humanos , Laboratórios , Pessoal de Laboratório , Técnicas de Diagnóstico Molecular/estatística & dados numéricos , Programas Nacionais de Saúde , Pandemias , Portugal/epidemiologia , Fluxo de Trabalho
2.
Rev Soc Bras Med Trop ; 53: e20200314, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32997053

RESUMO

INTRODUCTION: Rapid and accurate tuberculosis detection is critical for improving patient diagnosis and decreasing tuberculosis transmission. Molecular assays can significantly increase laboratory costs; therefore, the average time and economic impact should be evaluated before implementing a new technology. The aim of this study was to evaluate the cost and average turnaround time of smear microscopy and Xpert assay at a university hospital. METHODS: The turnaround time and cost of the laboratory diagnosis of tuberculosis were calculated based on the mean cost and activity based costing (ABC). RESULTS: The average turnaround time for smear microscopy was 16.6 hours while that for Xpert was 24.1 hours. The Xpert had a mean cost of USD 17.37 with an ABC of USD 10.86, while smear microscopy had a mean cost of USD 13.31 with an ABC of USD 6.01. The sensitivity of smear microscopy was 42.9% and its specificity was 99.1%, while the Xpert assay had a sensitivity of 100% and a specificity of 96.7%. CONCLUSIONS: The Xpert assay has high accuracy; however, the turnaround time and cost of smear microscopy were lower than those of Xpert.


Assuntos
Bioensaio/economia , Patologia Molecular/economia , Tuberculose Pulmonar/diagnóstico , Bioensaio/métodos , Custos e Análise de Custo , Humanos , Microscopia , Mycobacterium tuberculosis , Patologia Molecular/métodos , Sensibilidade e Especificidade , Tuberculose , Tuberculose Pulmonar/economia
3.
Yi Chuan ; 42(9): 870-881, 2020 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-32952121

RESUMO

The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has caused an ongoing pandemic of new coronavirus pneumonia (corona virus disease 2019, COVID-19). The virus has a long incubation period and strong infectivity, which poses a major threat to global health and safety. Detection of SARS-CoV-2 nucleic acid lies at the center of rapid detection of COVID-19, which is instrumental for mitigation of the ongoing pandemic. As of August 17, 2020, The National Medical Products Administration in China has approved 15 new coronavirus nucleic acid detection kits, 10 kits of which are based on reverse transcription-real-time quantitative PCR (RT-qPCR) technology. The remaining kits use five molecular diagnostic technologies different from RT-qPCR. This article reviews the principles, reaction time, advantages and disadvantages of above 15 detection kits, in order to provide references for rapid screening, diagnosis, prevention and control of COVID-19 and similar infectious diseases.


Assuntos
Betacoronavirus , Infecções por Coronavirus , Pandemias , Pneumonia Viral , China , Técnicas de Laboratório Clínico , Infecções por Coronavirus/diagnóstico , Humanos , Patologia Molecular , Pneumonia Viral/diagnóstico
5.
ACS Infect Dis ; 6(9): 2513-2523, 2020 09 11.
Artigo em Inglês | MEDLINE | ID: mdl-32786273

RESUMO

Coronavirus disease 2019 (COVID-19) is a newly emerging human infectious disease caused by Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2, also previously known as 2019-nCoV). Within 8 months of the outbreak, more than 10,000,000 cases of COVID-19 have been confirmed worldwide. Since human-to-human transmission occurs easily and the rate of human infection is rapidly increasing, sensitive and early diagnosis is essential to prevent a global outbreak. Recently, the World Health Organization (WHO) announced various primer-probe sets for SARS-CoV-2 developed at different institutions: China Center for Disease Control and Prevention (China CDC, China), Charité (Germany), The University of Hong Kong (HKU, Hong Kong), National Institute of Infectious Diseases in Japan (Japan NIID, Japan), National Institute of Health in Thailand (Thailand NIH, Thailand), and US CDC (USA). In this study, we compared the ability to detect SARS-CoV-2 RNA among seven primer-probe sets for the N gene and three primer-probe sets for the Orf1 gene. The results revealed that "NIID_2019-nCOV_N" from the Japan NIID and "ORF1ab" from China CDC represent a recommendable performance of RT-qPCR analysis for SARS-CoV-2 molecular diagnostics without nonspecific amplification and cross-reactivity for hCoV-229E, hCoV-OC43, and MERS-CoV RNA. Therefore, the appropriate combination of NIID_2019-nCOV_N (Japan NIID) and ORF1ab (China CDC) sets should be selected for sensitive and reliable SARS-CoV-2 molecular diagnostics.


Assuntos
Betacoronavirus/genética , Infecções por Coronavirus/virologia , Primers do DNA/genética , Pneumonia Viral/virologia , Betacoronavirus/isolamento & purificação , Técnicas de Laboratório Clínico/métodos , Infecções por Coronavirus/diagnóstico , Surtos de Doenças , Humanos , Pandemias , Patologia Molecular/métodos , Pneumonia Viral/diagnóstico , RNA Viral/análise , RNA Viral/genética , Reação em Cadeia da Polimerase em Tempo Real/métodos
7.
Brasília; CONITEC; ago. 2020.
Não convencional em Português | BRISA/RedTESA | ID: biblio-1122912

RESUMO

INTRODUÇÃO: Estima-se que a prevalencia de hepatite C entre gestantes no Brasil varie entre 0,2 e 1,4%, entretanto, a partir de 2014 a taxa de deteccao da doenca entre mulheres em idade fertil dobrou no pais, apos a incorporacao pelo Sistema Unico de Saude de antivirais de acao direta com alta efetividade e seguranca. O risco de transmissao vertical e variavel e depende de fatores como o correto planejamento de procedimentos obstetricos, da viremia materna, de coinfeccao por HIV, entre outros. A hepatite C na gravidez esta relacionada a desfechos em saude desfavoraveis para a gestante e os recem-nascidos e, em longo prazo, a aumento de incidencia de carcinoma hepatocelular, cirrose, necessidade de transplante de figado, utilizacao de servicos de saude e mortalidade. Atualmente a conduta para a deteccao de hepatite C em gestantes depende da prospeccao de fatores de risco pre-existentes, a qual postula-se ser ineficaz na identificação do numero real de casos. O rastreamento e proposto como alternativa a testagem baseada em risco com a finalidade de aumentar a taxa de deteccao de casos, diminuir a transmissao vertical e aumentar a cobertura de tratamentos atendendo a politicas publicas de eliminacao da doenca implementadas pelo Sistema de Saude Publica brasileiro. PERGUNTA: A estrategia de rastreamento para hepatite C em gestantes no primeiro trimestre de gravidez durante o prenatal e eficaz, segura e custo-efetiva quando comparada a testagem baseada em fatores de risco de acordo com a conduta em vigencia preconizada no Protocolo Clinico e Diretrizes Terapeuticas (PCDT) de Hepatite C e Coinfeccoes do Ministerio da Saude? TECNOLOGIA: Testagem universal para hepatite C em gestantes no primeiro trimestre de gravidez durante o pre-natal. EVIDÊNCIAS CLÍNICAS: Identificou-se pela avaliacao de estudos observacionais e transversais descritivos que a estrategia de testagem baseada em risco esta associada a baixos rendimentos diagnostico e sensibilidade, ou a uma baixa deteccao de casos efetivamente diagnosticados de hepatite C em gestantes durante o pre-natal. Em estudo realizado no Canada, pais em que a prevalencia estimada de hepatite C em gestantes e de 0,6%, identificou-se que uma resposta positiva (a questionario estruturado) a pelo menos um dos fatores de risco foi relacionada com uma sensibilidade de 67%, uma especificidade de 28%, um valor preditivo positivo de 0,4% e um valor preditivo negativo de 99% para identificacao de gestantes com HCV. Alem disso, identificou-se que o valor preditivo positivo para essa estrategia e dependente dos fatores de risco avaliados. E possivel que essa variabilidade se traduza em diferentes taxas de deteccao da doenca por meio da estrategia de abordagem por risco, com numero de casos verdadeiramente positivos nao identificaveis variando amplamente entre 2,5% e 27%, mas podendo chegar a 50%. De fato, na maioria dos estudos nao se identificou associação estatisticamente significativa entre a presenca de fatores de risco e ter um diagnostico positivo para hepatite C em gestantes. Em relacao aos criterios de Wilson e Jungner, utilizados na avaliacao de estrategias de rastreamento, identificasse que a maioria deles seriam atendidos, entretanto, ainda nao ha estudos em que se avaliem desfechos em saúde relevantes de curto (de importancia obstetrica e transmissao vertical) e longo prazos (evolucao da doenca e transmissibilidade) associados a implementacao de programa de rastreamento para hepatite C em gestantes. Outro criterio nao atendido e a inexistencia atualmente de tratamento antiviral aprovado para o uso em gestantes. AVALIAÇÃO ECONÔMICA: Foi conduzida uma analise de custo-efetividade na perspectiva do Sistema Unico de Saude para comparar as duas estrategias utilizando-se um modelo estatico de arvore de decisao em combinacao com cadeias de Markov. O rastreamento foi associado a custos incrementais de R$ 288,78 e aumento incremental em anos de vida ajustados pela qualidade (AVAQ-QALY) de 0,18 por gestante rastreada em comparacao com a triagem baseada em risco, com uma razao de custo-efetividade incremental de R$1.617,95 por QALY para rastreamento versus estrategia baseada em risco. Análise de impacto orçamentário: O impacto orcamentario anual associado a implementacao de um programa de rastreamento para hepatite C em gestantes na perspectiva do Sistema Unico de Saude foi de R$ 49 milhoes, com estimativa de gastos de 250 milhoes em cinco anos. Foram considerados os gastos diretos com diagnosticos, exames e procedimentos medicos complementares e tratamento. A variacao de parametros como a taxa de cobertura de gestantes testadas no sistema publico de saude em relacao as testadas no sistema suplementar, a taxa de gestantes testadas no primeiro trimestre de gravidez, o numero de gestantes coinfectadas com HIV e a taxa de oferta de tratamento causam reducoes no impacto orcamentario que variam entre 41 e 55%. RECOMENDAÇÕES INTERNACIONAIS: As Agencias inglesa National Institute for Health and Care Excellence (NICE), a canadense Canadian Agency for Drugs and Technologies in Health (CADTH) e a European Association for the Study of the Liver recomendam a testagem baseada na deteccao de fatores de risco. Nos Estados Unidos o Centers for Disease Control and Prevention (CDC), o U.S. Preventive Services Task Force (USPSTF) e a American Association for the Study of Liver Diseases e a Infectious Diseases Society of America recomendam o rastreamento para hepatite C em gestantes. O American College of Obstetricians and Gynecologists (ACOG) esta atualmente revisando as recomendacoes publicadas em 2017. Na Australia e Nova Zelandia, em documento de 2020, o The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) recomenda o rastreamento para hepatite C em gestantes. CONSIDERAÇÕES FINAIS: Ha evidencia de moderada qualidade que a estrategia de selecao para testagem de gestantes baseada na identificacao de risco e ineficaz, com baixo valor preditivo positivo e baixa sensibilidade. Apesar de não existem estudos controlados randomizados ou estudos observacionais com braco comparador em que se avaliem as consequencias em saude e os riscos associados a ambas as estrategias, e possivel que o numero de mulheres não detectadas pela estrategia baseada em risco seja significativo com consequencias deleterias para a saude das gestantes e recem-nascidos. Na perspectiva do Sistema Unico de Saude a estrategia de rastreamento se demonstrou mais efetiva que a deteccao baseada em risco com um acrescimo de R$ 288 por gestante testada. Algumas autoridades de saude mundiais vem reformulando as recomendacoes a respeito do diagnostico da hepatite C em gestantes para indicar o rastreamento, principalmente frente ao aumento da taxa de deteccao dos casos mundiais em mulheres, como ocorre no Brasil. A implementacao do programa de rastreamento atende a maioria dos criterios de Wilson e Jungner, exceto a possibilidade de tratamento, que ainda nao e possivel em gestantes. A adocao do rastreamento estaria associada a um incremento de 49 milhoes por ano no orcamento do Ministerio da Saude, principalmente em funcao do alto custo dos tratamentos. RECOMENDAÇÃO INICIAL DA CONITEC: Os membros presentes na 87a reuniao ordinaria da Conitec, que ocorreu no dia 03/06/2020, decidiram, por unanimidade, recomendar a incorporacao da testagem universal para hepatite C em gestantes no pre-natal. CONSULTA PÚBLICA: A consulta publica n° 19/2020, publicada no Diario Oficial da Uniao de 15/06/2020, foi realizada entre os dias 16/06/2020 e 06/07/2020. Foram recebidas 50 contribuicoes, sendo 8 pelo formulario para contribuicoes tecnicocientificas e 42 pelo formulario para contribuicoes sobre experiencia ou opiniao. Entre as 8 contribuicoes recebidas e avaliadas de cunho tecnico-cientifico, 4 foram consideradas para inclusao nesse parecer, todas concordantes com a recomendacao inicial da Conitec. Houve duas contribuicoes de pessoa juridica, da Iniciativa Medicamentos Doenças Negligenciadas (DNDi America Latina) e da Sociedade Brasileira de Infectologia. Os estudos submetidos reforcam a importancia da deteccao acurada de gestantes infectadas pela hepatite C em funcao dos piores desfechos relacionados a gestação nesse contexto e clinico e da possibilidade de encaminhamento das mulheres para acompanhamento para gestação de alto risco, do melhor planejamento de procedimentos obstetricos, de tratamento das mulheres e crianças em momento oportuno apos o parto e do alinhamento com as metas para a eliminacao da doenca no pais, diminuindo a transmissao vertical. Considerou-se a abordagem de testagem por risco como ineficaz. Todas as 42 contribuições recebidas sobre experiencia com a tecnologia ou opiniao sobre a incorporacao traziam contribuicoes em algum dos campos do formulario disponivel para submissao e foram concordantes com a recomendacao inicial da Conitec, incluindo as submetidas pelo Grupo Otimismo de Apoio ao Portador de Hepatite e da Sociedade Brasileira de Hepatologia observando-se grande convergencia entre o conteudo dessas contribuicoes e as de cunho tecnico-cientifico. Apos avaliacao das contribuicoes a Conitec manteve a recomendacao inicial favoravel a incorporacao da testagem universal para hepatite C em gestantes no pre-natal. DECISÃO: Incorporar a testagem universal para hepatite viral C em gestantes no prenatal, conforme protocolo do Ministerio da Saude, no ambito do Sistema Unico de Saude - SUS, conforme Portaria no 32, publicada no Diario Oficial da Uniao no 160, secao 1, pagina 118, em 20 de agosto de 2020.


Assuntos
Humanos , Cuidado Pré-Natal/métodos , Testes Sorológicos/instrumentação , Hepatite C/diagnóstico , Patologia Molecular/instrumentação , Avaliação da Tecnologia Biomédica , Sistema Único de Saúde , Brasil , Análise Custo-Benefício/economia
10.
Int Endod J ; 53(9): 1181-1191, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32496605

RESUMO

AIM: To explore a set of inflammatory biomarkers obtained from dentinal fluid (DF) from patients with symptomatic irreversible pulpitis (IP), reversible pulpitis (RP) and normal pulp (NP). METHODOLOGY: A cross-sectional exploratory study was performed, recruiting 64 patients on the basis of their respective pulp condition. DF samples were obtained from all patients (23, from IP patients; 20, from RP patients; and 21, from NP patients). Quantification of biomarkers was performed using a Luminex® MAGPIX platform system and multiplex assay kits. The Kruskal-Wallis test was used for comparisons with regard to pulp state. A simple logistic regression model and the odds ratio (OR) with a 95% level of confidence (P = 0.05) were used to evaluate associations between biomarker levels and pulpal diagnosis. The performance discrimination of the biomarkers was evaluated through the construction of a receiver operating characteristic (ROC) curve by calculating the area under the curve (AUC) for IP versus RP after logistic regression modelling. Youden criteria were used to establish cut-off points for biomarkers alone with AUC > 70 and P-value < 0.05, or estimated probabilities from the multivariable logistic model. RESULTS: The biomarkers that had significantly higher values in participants with IP versus RP were IL-1α, VEGF-α and FGF acid (P < 0.05). FGF acid (OR: 12.62; P = 0.0085; CI 95% 1.91-83.29) and VEGF-α (OR: 2.61; P = 0.0252; CI 95% 1.13-6.03) were associated with pulp diagnoses of IP versus RP. The AUC-ROC curve for FGF acid was 0.79. The model containing FGF acid, IL-1α, IL-6 and TIMP-1 had an AUC-ROC of 0.92 for IP versus RP with a significant difference from the FGF acid ROC curve (P = 0.0231). CONCLUSIONS: Dentinal fluid could be used to assay pulpal mediators in the molecular diagnosis of pulpitis. Despite the limitation of the clinical diagnostics used in the present study, it was possible to detect a difference between irreversible symptomatic pulpitis and reversible pulpitis associated with the following combined biomarkers: FGF acid + IL-6 + IL-1α, +TIMP-1.


Assuntos
Pulpite , Biomarcadores , Estudos Transversais , Polpa Dentária , Líquido Dentinal , Humanos , Patologia Molecular
11.
J Mol Diagn ; 22(8): 968-974, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32565306

RESUMO

Clinical molecular laboratory professionals are at the frontline of the response to the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic, providing accurate, high-quality laboratory results to aid in diagnosis, treatment, and epidemiology. In this role, we have encountered numerous regulatory, reimbursement, supply-chain, logistical, and systems challenges that we have struggled to overcome to fulfill our calling to provide patient care. In this Perspective from the Association for Molecular Pathology Infectious Disease Subdivision Leadership team, we review how our members have risen to these challenges, provide recommendations for managing the current pandemic, and outline the steps we can take as a community to better prepare for future pandemics.


Assuntos
Betacoronavirus , Infecções por Coronavirus/epidemiologia , Pandemias , Patologia Molecular , Pneumonia Viral/epidemiologia , Infecções por Coronavirus/diagnóstico , Humanos , Liderança , Técnicas de Diagnóstico Molecular , Patologia Molecular/organização & administração , Pneumonia Viral/diagnóstico , Sociedades Médicas , Estados Unidos/epidemiologia
13.
JCI Insight ; 5(12)2020 06 18.
Artigo em Inglês | MEDLINE | ID: mdl-32379723

RESUMO

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the cause of human coronavirus disease 2019 (COVID-19), emerged in Wuhan, China, in December 2019. The virus rapidly spread globally, resulting in a public health crisis including almost 5 million cases and 323,256 deaths as of May 21, 2020. Here, we describe the identification and evaluation of commercially available reagents and assays for the molecular detection of SARS-CoV-2 in infected FFPE cell pellets. We identified a suitable rabbit polyclonal anti-SARS-CoV spike protein antibody and a mouse monoclonal anti-SARS-CoV nucleocapsid protein (NP) antibody for cross-detection of the respective SARS-CoV-2 proteins by IHC and immunofluorescence assay (IFA). Next, we established RNAscope in situ hybridization (ISH) to detect SARS-CoV-2 RNA. Furthermore, we established a multiplex FISH (mFISH) to detect positive-sense SARS-CoV-2 RNA and negative-sense SARS-CoV-2 RNA (a replicative intermediate indicating viral replication). Finally, we developed a dual staining assay using IHC and ISH to detect SARS-CoV-2 antigen and RNA in the same FFPE section. It is hoped that these reagents and assays will accelerate COVID-19 pathogenesis studies in humans and in COVID-19 animal models.


Assuntos
Betacoronavirus/isolamento & purificação , Infecções por Coronavirus/virologia , Pneumonia Viral/virologia , Animais , Anticorpos Antivirais/imunologia , Antígenos Virais/isolamento & purificação , Betacoronavirus/genética , Betacoronavirus/imunologia , Técnicas de Laboratório Clínico/métodos , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/patologia , Formaldeído , Humanos , Imuno-Histoquímica , Hibridização In Situ , Camundongos , Proteínas do Nucleocapsídeo/imunologia , Pandemias , Inclusão em Parafina/métodos , Patologia Molecular/métodos , Pneumonia Viral/patologia , RNA Viral/isolamento & purificação , Coelhos , Fixação de Tecidos/métodos
14.
Am J Clin Pathol ; 154(2): 149-177, 2020 07 07.
Artigo em Inglês | MEDLINE | ID: mdl-32444878

RESUMO

OBJECTIVES: At a discussion on molecular/cytogenetic education for hematopathology fellows at the 2018 Society for Hematopathology Program Directors Meeting, consensus was that fellows should understand basic principles and indications for and limitations of molecular/cytogenetic testing used in routine practice. Fellows should also be adept at integrating results of such testing for rendering a final diagnosis. To aid these consensus goals, representatives from the Society for Hematopathology and the Association for Molecular Pathology formed a working group to devise a molecular/cytogenetic curriculum for hematopathology fellow education. CURRICULUM SUMMARY: The curriculum includes a primer on cytogenetics and molecular techniques. The bulk of the curriculum reviews the molecular pathology of individual malignant hematologic disorders, with applicable molecular/cytogenetic testing for each and following the 2017 World Health Organization classification of hematologic neoplasms. Benign hematologic disorders and bone marrow failure syndromes are also discussed briefly. Extensive tables are used to summarize genetics of individual disorders and appropriate methodologies. CONCLUSIONS: This curriculum provides an overview of the current understanding of the molecular biology of hematologic disorders and appropriate ancillary testing for their evaluation. The curriculum may be used by program directors for training hematopathology fellows or by practicing hematopathologists.


Assuntos
Currículo , Educação de Pós-Graduação em Medicina , Patologia Clínica/educação , Patologia Molecular/educação , Bolsas de Estudo , Hematologia , Humanos
15.
Emerg Infect Dis ; 26(8): 1944-1946, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32433015
16.
Acta Cytol ; 64(5): 463-470, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32259828

RESUMO

In June 2019, a lung symposium was held at the 42nd European Congress of Cytology in Malmö, Sweden. Due to the current importance of cytological samples in the diagnoses and molecular analysis to set up the utmost management of lung cancer patients, cytologists from different countries shared the experience of their institutions. The place of the cytological samples gains more and more importance on the potential long-term survival gain through personalized medicine and this harbors the improvement of the guidelines both in pathology and cytology field. In this symposium, the new 6-tiered reporting system for pulmonary cytology proposed by the Papanicolaou Society of Cytopathology and detailed cytomorphological approach to lung carcinoma including lookalike lesions and DNA- and RNA-based analysis of cytology material have been discussed. The cytopathologist plays a pivotal role in ensuring success of a correct triage for the cytology material to be sure of the adequacy and quality of the yield from the rapid on-site evaluation till the report which should encompass molecular profile in rational patient management.


Assuntos
Biomarcadores Tumorais/análise , Citodiagnóstico/métodos , Neoplasias Pulmonares/diagnóstico , Guias de Prática Clínica como Assunto/normas , Transcriptoma , Biomarcadores Tumorais/genética , Europa (Continente) , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patologia , Patologia Molecular , Medicina de Precisão , Sociedades Médicas
17.
J Clin Pathol ; 73(9): 531-534, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32317291

RESUMO

Sclerosing pneumocytoma (SP) is a rare benign low-grade tumour of the lung, and typically presents as single discrete coin lesions on imaging. Multiple SP is an exceedingly rare entity and thus reported sparingly. We review the literature on multiple SP, their clinical presentations, histopathology, relevant differential diagnoses and molecular histogenesis of this entity. SP has a predilection for East Asian origin females who have never smoked. Patients are either asymptomatic or have symptoms such as cough, haemoptysis that may be persistent, chest pain if involving the pleura and presents as discrete coin lesion on chest X-ray. Histologically, they are papillary, solid, angiomatoid or sclerotic, or combinations of these four basic patterns. Multiple lesions have the same or slightly different histological patterns. They can be distributed in either lung, in any lobe and can even be bilateral. AKT-1 molecular pathways are pivotal in their molecular pathogenesis. In this review, we further propose a classification based on five types of distribution of multiple SP.


Assuntos
Neoplasias Pulmonares/classificação , Proteínas Proto-Oncogênicas c-akt/genética , Hemangioma Esclerosante Pulmonar/classificação , Grupo com Ancestrais do Continente Asiático , Diagnóstico Diferencial , Feminino , Humanos , Imuno-Histoquímica , Pulmão/diagnóstico por imagem , Pulmão/patologia , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/patologia , Neoplasias Pulmonares/terapia , Patologia Molecular , Hemangioma Esclerosante Pulmonar/diagnóstico por imagem , Hemangioma Esclerosante Pulmonar/patologia , Hemangioma Esclerosante Pulmonar/terapia , Tomografia Computadorizada por Raios X
18.
Am J Surg Pathol ; 44(7): e80-e86, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32235153

RESUMO

Penile cancer and its precursor lesions are morphologically and clinically heterogenous and they can be further characterized by immunohistochemical (IHC) and molecular genetic analyses. According to the current World Health Organization (WHO) classification, penile intraepithelial neoplasia (PeIN) and invasive penile carcinomas can be grouped into human papillomavirus (HPV)-related and non-HPV-related neoplasms. This distinction is clinically relevant for etiological and prognostic reasons. To gain insight into the current use of molecular testing and IHC in their diagnostics, a survey was held among the membership of the International Society of Urological Pathology (ISUP). About 250 pathologists from 51 countries answered the survey on the practice and use of IHC/molecular technique as aids in the diagnosis of penile squamous neoplasia. More than half (60%) of the respondents worked at an academic hospital. The questions focused on condylomas, precancerous squamous lesions, and squamous cell carcinoma (SCC). About 35% to 45% of the pathologists considered the use of IHC or molecular tests of value in the pathologic evaluation of precancerous and invasive neoplasms. The vast majority of the respondents do not use IHC for the diagnosis and subtyping of condylomas. There is emerging evidence that some condylomas may participate in the penile carcinogenesis process, especially the high-risk HPV-related atypical condylomas. We recommend the use of p16 in such cases. For most PeIN cases, about half of the responding pathologists make the diagnosis on hematoxylin and eosin slides only. For their subtyping, 50% to 55% of the pathologists use IHC in warty or basaloid PeINs and 40% in differentiated PeIN. To separate HPV-related PeIN from non-HPV-related PeIN, 80% reported using p16 and 20% Ki-67. On the basis of literature review and our practice, the ISUP working group recommends the use of Ki-67 to separate non-HPV-differentiated PeIN from squamous hyperplasia and the use of p16 to distinguish the pleomorphic variant of differentiated PeIN from HPV-related PeIN. With respect to SCCs, according to the survey, immunostaining is only applied in 15% of conventional invasive SCCs, the majority being diagnosed by hematoxylin and eosin. To separate HPV and non-HPV tumors, most (80%) would use p16 and 25% would use p53. For subtype classification, they consider IHC necessary to identify verrucous, papillary, warty, warty-basaloid, and basaloid carcinomas. p16 is used as a surrogate of polymerase chain reaction for the identification of high-risk HPV. We recommend the use of p16 immunostain in cases where the tumoral histologic features of the SCCs are not classical for HPV-related neoplasms, especially in poorly differentiated tumors. Because the majority of these neoplasms harbor high-risk HPV (HPV16), identifying the presence of the virus is rather more important than documenting its specific genotype.


Assuntos
Biomarcadores Tumorais , Carcinoma in Situ/diagnóstico , Carcinoma de Células Escamosas/diagnóstico , Neoplasias Penianas/diagnóstico , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Carcinoma in Situ/genética , Carcinoma in Situ/metabolismo , Carcinoma in Situ/patologia , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/metabolismo , Carcinoma de Células Escamosas/patologia , Testes Genéticos/métodos , Humanos , Imuno-Histoquímica , Masculino , Mutação , Patologia Clínica , Patologia Molecular , Neoplasias Penianas/genética , Neoplasias Penianas/metabolismo , Neoplasias Penianas/patologia , Padrões de Prática Médica/estatística & dados numéricos , Lesões Pré-Cancerosas/diagnóstico , Lesões Pré-Cancerosas/genética , Lesões Pré-Cancerosas/metabolismo , Lesões Pré-Cancerosas/patologia , Sociedades Médicas , Urologia
19.
Am J Surg Pathol ; 44(7): e47-e65, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32251007

RESUMO

Renal cell carcinoma (RCC) subtypes are increasingly being discerned via their molecular underpinnings. Frequently this can be correlated to histologic and immunohistochemical surrogates, such that only simple targeted molecular assays, or none at all, are needed for diagnostic confirmation. In clear cell RCC, VHL mutation and 3p loss are well known; however, other genes with emerging important roles include SETD2, BAP1, and PBRM1, among others. Papillary RCC type 2 is now known to include likely several different molecular entities, such as fumarate hydratase (FH) deficient RCC. In MIT family translocation RCC, an increasing number of gene fusions are now described. Some TFE3 fusion partners, such as NONO, GRIPAP1, RBMX, and RBM10 may show a deceptive fluorescence in situ hybridization result due to the proximity of the genes on the same chromosome. FH and succinate dehydrogenase deficient RCC have implications for patient counseling due to heritable syndromes and the aggressiveness of FH-deficient RCC. Immunohistochemistry is increasingly available and helpful for recognizing both. Emerging tumor types with strong evidence for distinct diagnostic entities include eosinophilic solid and cystic RCC and TFEB/VEGFA/6p21 amplified RCC. Other emerging entities that are less clearly understood include TCEB1 mutated RCC, RCC with ALK rearrangement, renal neoplasms with mutations of TSC2 or MTOR, and RCC with fibromuscular stroma. In metastatic RCC, the role of molecular studies is not entirely defined at present, although there may be an increasing role for genomic analysis related to specific therapy pathways, such as for tyrosine kinase or MTOR inhibitors.


Assuntos
Biomarcadores Tumorais , Carcinoma de Células Renais/diagnóstico , Neoplasias Renais/diagnóstico , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Carcinoma de Células Renais/genética , Carcinoma de Células Renais/metabolismo , Carcinoma de Células Renais/patologia , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Neoplasias Renais/genética , Neoplasias Renais/metabolismo , Neoplasias Renais/patologia , Mutação , Metástase Neoplásica , Síndromes Neoplásicas Hereditárias/diagnóstico , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/metabolismo , Síndromes Neoplásicas Hereditárias/patologia , Patologia Clínica , Patologia Molecular , Prognóstico , Sociedades Médicas , Urologia
20.
Am J Surg Pathol ; 44(7): 859-861, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32341239

RESUMO

The 2019 Consultation Conference on the molecular pathology of urogenital cancers was organized by the International Society of Urological Pathology (ISUP) to have an understanding of the current use of molecular-genetic markers and to make recommendations on their application in prostate, bladder, renal, testicular, and penile cancer. This brief introductory article describes the organization of this conference and provides its rationale and main findings.


Assuntos
Biomarcadores Tumorais , Conferências de Consenso como Assunto , Patologia Molecular , Sociedades Médicas , Neoplasias Urogenitais/diagnóstico , Urologia , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Humanos , Prognóstico , Neoplasias Urogenitais/genética , Neoplasias Urogenitais/metabolismo , Neoplasias Urogenitais/patologia
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