Percorrer por autor "Albuquerque, Joana"
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- Prognostic role and clinicopathological features of SMAD4 gene mutation in pancreatic cancer: a systematic review and meta-analysisPublication . Rodrigues, Tânia; Albuquerque, Joana; Cardoso, Joana; Sousa-Ferreira, Ivo; Martins, João Paulo; Coelho, José Luís PassosPurpose: The prognostic value of SMAD4 in pancreatic cancer has been evaluated in several studies. However, the conclusions remain controversial. Therefore, we aimed to evaluate the prognostic value of the SMAD4 gene in pancreatic cancer to aid in the design of therapeutic strategies. Methods: This review adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) criteria and the proposed methodology was registered on PROSPERO. An electronic search was made in MEDLINE (via PubMed), Web of Science and Google Scholar to identify all relevant studies. Eligible studies were those written in English including patients with Pancreatic Ductal Adenocarcinoma (PDAC), who underwent pancreatic surgery with curative intent and provided data on SMAD4 gene status or SMAD4 protein expression and its association to prognosis, measured by overall survival (OS). The effect measure of interest was the hazard ratio (HR) for OS between PDAC with or without SMDA4 mutations. Results: A total of 24 studies on SMAD4, with 4340 samples, were included in this systematic review and meta-analysis. Our pooled results demonstrated that patients with tumours with SMAD4 alteration had significantly worse prognosis for OS (HR= 1.43, 95% CI = 1.17–1.76, p-value = 0.002). Conclusion: This systematic review and meta-analysis support the use of driver mutations in the SMAD4 gene as a prognostic marker for pancreatic cancer.
- Unveiling the traits of HER2-low breast cancer: a comparative analysis of IHC1+ vs IHC2+/ISH-negative subgroups – insights from a 3-year cohort studyPublication . Correia, Jorge; Pulido, Catarina; Albuquerque, Joana; Prazeres, Gil; Margarido, Inês; Câmara, Mariana; Neto, Rita; Fernandes, Gonçalo; Godinho, João; Nave, Mónica; Mascarenhas, Francisco; Estudante, Isabel; Lopes, Paulina; Catarino, Ana; Passos-Coelho, José LuísBackground: Half of all breast cancer (BC) cases fall into the HER2-low category, defined as immunohistochemistry (IHC) 1+ or IHC 2+ in situ hybridization negative (ISH-). Two-thirds of these cases are IHC1+, while one-third is IHC2+/ISH-. New anti-HER2 antibody-drug conjugates (ADCs) have emerged as treatment options for metastatic or unresectable HER2-low BC patients. However, the heterogeneity between IHC1+ and IHC2+/ISH- subgroups and the clinical implications of varying HER2-low expression remain unclear. Objectives: This study aimed to compare demographic and clinicopathological differences between IHC1+ and IHC2+/ISH- subgroups and evaluate their response to neoadjuvant chemotherapy (NACT) in a cohort of patients with HER2-low BC. Methods: All consecutive patients diagnosed with HER2-low invasive BC between 2018 and 2020 at our institution were included in this retrospective cohort study. Clinicopathological characteristics were compared between IHC1+ and IHC2+/ISH- subgroups. Pathologic complete response (pCR) rates were assessed in patients undergoing NACT, and a multivariable logistic regression model was used to identify factors associated with pCR. Results: A total of 222 patients were included, evenly divided between IHC1+ (n=105, 47%) and IHC2+/ISH- (n=117, 53%) tumors, with no significant differences in baseline characteristics. Both subgroups predominantly comprised female patients (99% IHC1+ vs. 98% IHC2+/ISH-), postmenopausal (55% vs. 58%), with early-stage BC (94% vs. 98%) and estrogen receptor (ER)-positive tumors (90% vs. 90%). Around two-thirds had grade 2 tumors (63% vs. 64%), and the median Ki-67 index was 20% in both subgroups. Most BC were classified as luminal B-like (56% vs. 58%), followed by luminal A-like (35% vs. 34%), and TNBC (9% vs. 8%). Among the 43 patients with HER2-low BC who received NACT, 36% of IHC1+ patients achieved pCR, compared to only 5% in the IHC2+/ISH- subgroup (p = 0.021). Multivariable analysis revealed that IHC2+/ISH- status (vs. IHC1+) was significantly associated with lower odds of pCR (OR=0.07, 95% CI: 0.00–0.51, p = 0.025), while higher baseline Ki-67 and ER-negative status showed non-significant trends toward higher pCR rates after adjustment for other variables. Conclusion: Despite similar clinicopathological features, IHC2+/ISH- status was independently associated with lower pCR rates compared to IHC1+. These findings suggest that HER2-low subgroups may influence response to NACT and should be considered in multivariable prediction models, potentially informing stratified treatment approaches in the era of anti-HER2 ADCs.