Gabriela Fernandes

Universidade do Porto

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Venceslau Hespanhol

Universidade do Porto

Adriana Magalhães

Hospital de São João

Henrique Queiroga

Hospital de São João

Hélder Novais Bastos

Hospital de São João

Vanessa Santos

Universidade Cruzeiro do Sul

José Carlos Machado

i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto

Maria Sucena

Hospital de Santo António

Natália Martins

i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto

A. Magalhães

Universidade Federal de Santa Catarina

Cláudia Freitas

Hospital de Santo António

Cooperative Institutions

Hospital de São João

137

Universidade do Porto

118

Pontifícia Universidade Católica do Rio Grande do Sul

Universitat de Miguel Hernández d'Elx

Universidad Católica San Antonio de Murcia

Universidad de Murcia

International Islamic University Malaysia

i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto

IPO Porto

Centro Hospitalar do Porto

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The role of endobronchial ultrasound-guided transbronchial needle aspiration in the diagnosis of lymphoproliferative disorders

Revista Portuguesa de Pneumologia (2017)

Vanessa Santos A. Magalhães Maria Sucena Gabriela Fernandes

Endobronchial ultrasound

Lymphoproliferative Disorders

10.1016/j.rppnen.2017.07.007

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Citations (0)

Targeted Gene Next-Generation Sequencing Panel in Patients with Advanced Lung Adenocarcinoma: Paving the Way for Clinical Implementation

Cancers (2019)

Gabriela Fernandes Maria Jacob Natália Martins Conceição Souto Moura Susana Guimarães

Identification of targetable molecular changes is essential for selecting appropriate treatment in patients with advanced lung adenocarcinoma. Methods: In this study, a Sanger sequencing plus Fluorescence In Situ Hybridization (FISH) sequential approach was compared with a Next-Generation Sequencing (NGS)-based approach for the detection of actionable genomic mutations in an experimental cohort (EC) of 117 patients with advanced lung adenocarcinoma. Its applicability was assessed in small biopsies and cytology specimens previously tested for epidermal growth factor receptor (EGFR) and anaplastic lymphoma kinase (ALK) mutational status, comparing the molecular changes identified and the impact on clinical outcomes. Subsequently, an NGS-based approach was applied and tested in an implementation cohort (IC) in clinical practice. Using Sanger and FISH, patients were classified as EGFR-mutated (n = 22, 18.8%), ALK-mutated (n = 9, 7.7%), and unclassifiable (UC) (n = 86, 73.5%). Retesting the EC with NGS led to the identification of at least one gene variant in 56 (47.9%) patients, totaling 68 variants among all samples. Still, in the EC, combining NGS plus FISH for ALK, patients were classified as 23 (19.7%) EGFR; 20 (17.1%) KRAS; five (4.3%) B-Raf proto-oncogene (BRAF); one (0.9%) Erb-B2 Receptor Tyrosine Kinase 2 (ERBB2); one (0.9%) STK11; one (0.9%) TP53, and nine (7.7%) ALK mutated. Only 57 (48.7%) remained genomically UC, reducing the UC rate by 24.8%. Fourteen (12.0%) patients presented synchronous alterations. Concordance between NGS and Sanger for EGFR status was very high (κ = 0.972; 99.1%). In the IC, a combined DNA and RNA NGS panel was used in 123 patients. Genomic variants were found in 79 (64.2%). In addition, eight (6.3%) EML4-ALK, four (3.1%), KIF5B-RET, four (3.1%) CD74-ROS1, one (0.8%) TPM3-NTRK translocations and three (2.4%) exon 14 skipping MET Proto-Oncogene (MET) mutations were detected, and 36% were treatable alterations. Conclusions: This study supports the use of NGS as the first-line test for genomic profiling of patients with advanced lung adenocarcinoma.

Sanger sequencing

10.3390/cancers11091229

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Airway stents in malignant central airway obstruction

Pulmonology (2021)

Mariana Serino Cláudia Freitas Sandra Saleiro Bruno Cabrita Miguel Ángel Ruiz Conde

Airway obstruction

10.1016/j.pulmoe.2021.02.003

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Citations (7)

Modified Glasgow Prognostic Score – a predictor of survival in malignant pleural effusion

Beatriz Martins Mariana Serino Pedro Magalhães Ferreira Rita A. Trovisco David Barros Coelho

Introduction: Malignant pleural effusions (MPE) are common complications in cancer patients, associated with poor prognosis. Biomarkers of systemic inflammation have been reported as potential prognostic predictors in cancer, and are the basis of some prognostic scores, such as the modified Glasgow Prognostic Score (mGPS). We aimed to assess survival in patients with MPE based on the mGPS. Methods: We retrospectively assessed demographic and clinical data from patients with confirmed MPE. The mGPS was defined as: C-reactive protein (CRP)>10 mg/L and albumin<35 g/L – score 2 (poor prognosis), CRP>10 mg/L and albumin ≥35 g/L - score 1 (intermediate), CRP≤10 mg/L – score 0 (good). Survival was analyzed with Kaplan-Meier curves and compared by log-rank test. Multivariate analysis was performed using Cox regression analysis. Results: We studied 164 patients with MPE (47.8% male, mean age of 66.4±13.6 years) with an ECOG-PS score ≥2 in 35.4% of cases. Specific cancer treatment was given to 104 (63.4%) patients. Concerning mGPS, 21.3% had score 0, 23.8% score 1 and 54.9% score 2. A higher score in mGPS was associated with a worse survival (p<0.001). Overall, the median survival was 3.0 (95% CI 2.04-3.96) months, and when stratified according to mGPS scores was 9.0 (95% CI 3.22-14,77) months in score 0, 4.0 (95% CI 2.65-5.35) months in score 1 and 1.0 (95% CI 0.03-1.98) months in score 2. After adjusting for age, sex and ECOG-PS, independent predictors of survival were systemic treatment (HR 0.37, p<0.001), lung cancer as the primary site (HR 2.68, p<0.001) and mGPS (2 vs 0 HR 2.08 p<.001). Conclusion: In our series, mGPS was an independent prognostic indicator for survival of patients with MPE.

10.1183/13993003.congress-2021.pa3102

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Spirometry as an integral part of benign tracheal stenosis management

Josué Pinto Bruno Filipe de Sá Chambel Cláudia Freitas Mariana Conceição António Morais

Background: Benign tracheal stenosis (BTS) management is challenging. Though bronchoscopy is the gold standard for diagnosis, its inherent risks make it a less than ideal follow-up method. Previous studies from the 70s established spirometry as a quantitative tool for evaluation of BTS, but scarce research was conducted since. This study aimed to correlate spirometric values with anatomical grading and severity of BTS. Methods: Patients with BTS followed in our department were recruited. Data was collected by patient interview and by consulting the clinical file. Respiratory function tests and cervico-thoracic imaging were performed within 6 months. Stenosis severity was measured using image analysis software applied to radiological images. Data analysis was performed to assess the correlation between spirometric values and stenosis features. Results: Of 28 patients enrolled (mean age 55.1±15.9 years, 53.6% female), 89.3% had complex stenosis. The most common etiology was post-intubation (67.8%) and the most common location was subglottic (71.4%). Regarding stenosis severity, 60.7% presented <50% of airway narrowing. Tracheal narrowing >50% was associated with higher FEV1/PEF ratio and lower PEF% value (p=0.042 and p=0.045, respectively). FEV1/PEF ratio was the only spirometric parameter that accurately classified those with >50% tracheal narrowing (AUC=0.80). There was no significant association between spirometric values and stenosis complexity. Remarkably, the number of endoscopic procedures during follow-up was inversely correlated with quality of life (r=-0.427, p=0.023). Conclusion: Spirometry is a potential method to predict BTS severity, thus reducing the need of diagnostic bronchoscopies during follow-up.

Etiology

Subglottic stenosis

10.1183/13993003.congress-2020.2844

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Replication of the tumor necrosis factor receptor−associated factor 1/complement component 5 region as a susceptibility locus for rheumatoid arthritis in a European family‐based study

Arthritis & Rheumatism (2008)

F. A. S. Kurreeman Dominique Rocha Jeanine J. Houwing‐Duistermaat S. Vrijmoet Vitor H. Teixeira

Abstract Objective We recently showed, using a candidate gene approach in a case–control association study, that a 65‐kb block encompassing tumor necrosis factor receptor−associated factor 1 (TRAF1) and C5 is strongly associated with rheumatoid arthritis (RA). Compared with case–control association studies, family‐based studies have the added advantage of controlling potential differences in population structure and are not likely to be hampered by variation in population allele frequencies, as is seen for many genetic polymorphisms, including the TRAF1/C5 locus. The aim of this study was to confirm this association in populations of European origin by using a family‐based approach. Methods A total of 1,356 western European white individuals from 452 “trio” families were genotyped for the rs10818488 polymorphism, using the TaqMan allelic discrimination assay. Results We observed evidence for association, demonstrating departure from Mendel's law, with an overtransmission of the rs10818488 A allele (A = 55%; P = 0.036). By taking into consideration parental phenotypes, we also observed an increased A allele frequency in affected versus unaffected parents (A = 64%; combined P = 0.015). Individuals carrying the A allele had a 1.2‐fold increased risk of developing RA (allelic odds ratio 1.24, 95% confidence interval 1.04–1.50). Conclusion Using a family‐based study that is robust against population stratification, we provide evidence for the association of the TRAF1/C5 rs10818488 A allele and RA in populations of European descent, further substantiating our previous findings. Future functional studies should yield insight into the biologic relevance of this locus to the pathways involved in RA.

Population stratification

10.1002/art.23793

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Citations (33)

Unusual diagnosis of traqueal obstrution

Revista Portuguesa de Pneumologia (2006)

C. Damas Gabriela Fernandes Alexandre L. Magalhães Venceslau Hespanhol Joana Marques

10.1016/s2173-5115(06)70405-5

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Cancro do pulmão de não pequenas células: Comparação entre o estadiamento clínico e o patológico Non small cell lung cancer: Comparison between clinical and pathological staging

DOAJ (DOAJ: Directory of Open Access Journals) (2006)

Gabriela Fernandes Maria Sucena E. Lombardía Ana Sofia Machado Venceslau Hespanhol

Lung cancer (LC) staging remains a clinical challenge as it determines the disease’s prognosis and treatment. Surgery is the best option for controlling non-small cell lung cancer (NSCLC) and the only potential cure. In this setting, lung cancer staging helps select patients who will benefit from surgery, excluding inoperable patients and including patients with resectable lesions. The aim of this study is to compare clinical staging (TNMc) with pathological staging (TNMp) and to evaluate diagnosis, complementary treatment and survival of these patients. This is a retrospective study that included patients with non-small cell lung cancer or with highly sus

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Unresectable stage III non-small cell lung cancer: Insights from a Portuguese expert panel

Pulmonology (2023)

António Araújo Ana Barroso B. Parente C. Travancinha Evelyn Teixeira Borges

The management of unresectable stage III non-small cell lung cancer (NSCLC) is clinically challenging and there is no current consensus on optimal strategies. Herein, a panel of Portuguese experts aims to present practical recommendations for the global management of unresectable stage III NSCLC patients.

10.1016/j.pulmoe.2022.11.008

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Citations (4)

Lung cancer patients harbouring epidermal growth factor receptor mutation

Lung Cancer (2015)

Cláudia Camila Dias David Araújo Adriana Magalhães Henrique Queiroga Venceslau Espanhol

10.1183/13993003.congress-2015.pa4253

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