Sapientia
Repositório Científico da UAlg
Entradas recentes
Mismatch repair deficiency or microsatellite instability in locally advanced rectal cancer patients treated with total neoadjuvant therapy
Publication . Benhima, Nada; Audisio, Alessandro; Gallio, Chiara; Ricco, Gianluca; Meillat, Hélène; Velenik, Vaneja; Carmen Riesco, Maria; Suárez Alecha, Javier; Rasschaert, Gertjan; López-Bravo, David Páez; Tougeron, David; Carvalho, Carlos; Borelli, Beatrice; Famiglietti, Federico; De la Pinta, Carolina; Manuel O’Connor, Juan; Artaç, Mehmet; Braam, Pètra M.; Puccini, Alberto; Waldhorn, Ithai; Vanden Bulcke, Alexander; Loi, Mauro; De Felice, Francesca; Eid, Michal; Deleporte, Amélie; Rossini, Chiara; Montenegro, Paola; Fiore, Michele; Van Den Eynde, Marc; Shamseddine, Ali; Geboes, Karen P.; Messina, Marco; Mulet Margalef, Núria; Houlzé-Laroye, Constance; Kirac, Iva; Pastorino, Alessandro; Salati, Massimiliano; Argalácsová, Soňa; Morano, Federica; Capdevila, Jaume; Garajovà, Ingrid; Antoun, Claire; Pinto, Cidália Maria Sousa; Lutz, Manfred P.; Adams, Richard A.; Chau, Amélie; Siebenhuener, Alexander; Dermine, Alexandre; Ghidini, Michele; Dulskas, Audrius; Papamichael, Demetris; Javed, Muhammad Ahsan; Ruiz-Garcia, Erika; Tomášek, Jiří; Petrillo, Angelica; Baratelli, Chiara; Vandamme, Timon; Spolverato, Gaya; Bock, Felix; Diaz, Marie; Campana, Luca Giovanni; Sur, Daniel; Karampeazis, Athanasios; Patsko, Veronika; Puleo, Francesco; Bounedjar, Adda; Fiorica, Francesco; Gilliaux, Quentin; Bernardini, Ilaria; De Stefano, Alfonso; Guren, Marianne Grønlie; Jakubauskas, Matas; Sert, Fatma; Gomez Galdon, Maria; Veron Sanchez, Ana; Vierasu, Ortansa-Irina; Assaf, Irene; Moretti, Luigi; Martinive, Philippe; Liberale, Gabriel; Van Laethem, Jean-Luc; Sclafani, Francesco
Background: Data on the prognostic value of dMMR/MSI-H in locally advancer rectal cancer (LARC) are inconsistent and mostly from patients treated with conventional neoadjuvant therapy. We sought to evaluate oncological outcomes by mismatch repair/microsatellite (MMR/MS) status in LARC patients treated with total neoadjuvant therapy (TNT).
Methods: Patients from the International Real-World Study of TNT in Rectal Cancer tested for dMMR/MSI-H by immunohistochemistry and/or molecular testing were included. Pathological complete response (pCR), complete response (CR, pCR + clinical complete response), event-free survival (EFS) and overall survival (OS) were assessed by MMR/MS status in the overall and matched populations. For the latter, variable-ratio matching according to nine variables (age, year of diagnosis, tumour location, staging modality, cT stage, cN stage, presence of lateropelvic lymphadenopathy, distance from the mesorectal fascia, TNT regimen) was applied.
Results: Of 1911 patients, 1320 (69.1%) (09/2012-09/2025) had information on the MMR/MS status, 46 (3.5%) having dMMR/MSI-H tumours. No outcome differences were found by MMR/MS status in the overall population. In the matched population (n = 372), pCR was 14.2% among patients with pMMR/MSS tumours versus 12.5% among those with dMMR/MSI-H tumours (adjusted OR 1.07, 95%CI 0.39-2.91, p = 0.899), while CR was 18.9% and 16.7%, respectively (adjusted OR 0.95, 95%CI 0.35-2.58, p = 0.917). 3-year EFS and 5-year OS were 65.8% and 79.2%, and 67.6% and 93.5% in patients with pMMR/MSS and in those with dMMR/MSI-H tumours, respectively (adjusted HR EFS 1.30, 95%CI 0.57-2.89, p = 0.527; adjusted HR OS 2.52, 95%CI 0.67-9.42, p = 0.171).
Conclusions: In this study, the dMMR/MSI-H phenotype did not hold prognostic value in LARC patients treated with TNT.
Verrucous carcinoma of the esophagus: a deceiving entity with an uncertain etiology – case report
Publication . Carvalho, Isabel Malta; Gago, Tânia; Relvas, Luís; Portugal, Margarida; Cadilla, Jesus; Peixe, Bruno
Verrucous carcinoma of the esophagus is an extremely rare malignancy, described as a well-differentiated variant of esophageal squamous cell carcinoma, typically exhibiting exophytic/verrucous growth and intraluminal involvement that is often rich in inflammation and hyperkeratosis, which hampers histologic diagnosis and consequently delays treatment. We report the case of a 58-year-old woman with progressive dysphagia and a circumferential, verrucous esophageal lesion, without histologic confirmation despite multiple biopsies and endoscopic resections, showing only focal p16 positivity. After further evaluation with CT, endoscopic ultrasound, and FDG-PET/CT, a presumptive diagnosis of locally advanced verrucous carcinoma of the esophagus was assumed, and palliative chemotherapy was initiated, followed by a sustained endoscopic and radiologic response. This case highlights the importance of multidisciplinary discussion when verrucous carcinoma of the esophagus is suspected and the unexpected, sustained response despite unresectability.
Natural history is more relevant than ever for primate ecology and conservation
Publication . Carvalho, Susana; Bobe, René; Beardmore-Herd, Megan; d´Oliveira Coelho, João; Pascual-Garrido, Alejandra; Kingdon, Jonathan
In the tradition of pioneers such as Alexander von Humboldt (1807); Darwin (1839) and Wallace (1869), natural history developed as an integrative framework to understanding processes, relationships, variation, contingency, and patterns in the natural world. These pioneers established biogeography as a foundational natural science. Grounded in prolonged, direct observations, this approach gave rise to field primatology, catalysed by the transformative work of figures like Imanishi (1941); Goodall (1986); Nishida (2011); Washburn (1961) and Strum (2025). Field primatology is thus a direct descendant of classic natural history approaches. Far from being superseded by analytical advances, natural history remains the foundation that gives depth and meaning to primatology, generating the core hypotheses and questions that fuel contemporary evolutionary inquiry (Kingdon 2023).
Drivers and patterns of sediment organic carbon in European regional seas
Publication . Lønborg, Christian; Graversen, Anna Elizabeth Løvgren; Addamo, Anna Maria; Assis, Jorge; Burrows, Michael Timothy; Stewart, Eleanor; Lillis, Helen; Costello, Mark John; Krause‐Jensen, Dorte
Mapping organic carbon (OC) stores in marine sediments is a management priority to potentially minimize the anthropogenic release of organic carbon from the seabed. Sediment OC content shows high regional variability, shaped by a complex interplay of physical, chemical, biological and anthropogenic factors. In this study, we present an assessment of the drivers and patterns of sediment OC across European regional seas, with a particular focus on the role of large‐scale habitats, substratum characteristics, and environmental conditions. To investigate these relationships, we integrated data sets encompassing sediment OC, benthic habitats, sediment substrata and 11 environmental variables. Applying machine learning techniques, we identified wave exposure (estimated from wave fetch), light availability, seafloor geomorphic features, and maximum bottom water temperature as the most important environmental predictors of sediment OC content across European regional seas. While the model captured broad spatial patterns in sediment OC, it did not resolve local scale variability, making it better suited for regional assessments than for site‐specific predictions. Overall, the highest OC contents were found in sediments underlying vegetated habitats such as Posidonia oceanica and other seagrass meadows as well as in mud, and mixed sediment substrata. OC hotspots were generally located in inshore areas with low wave fetch and temperature; these include areas of the Baltic Sea, North Sea, Adriatic Sea, Barents Sea, and the Black Sea. Our data‐driven approach provides a robust foundation for identifying OC‐rich sediments, which are critical for conservation planning and assessing anthropogenic impacts on marine OC.
Collaborative science narrows knowledge gaps in marine biological invasions to advance a national framework.
Publication . Ribeiro, Romeu S.; Espírito Santo, Cristina; Celestino, Susana; Mamede, Marta; Castro, João J.; Cruz, Teresa; Silva, Teresa; Jacinto, David; Bartilotti, Cátia; Lobo-Arteaga, Jorge; Tuaty-Guerra, Miriam; Canning-Clode, João; Duarte, Sofia; Lavrador, Ana S.; Costa, Ana Cristina; Parente, Manuela Isabel; Parretti, Paola; Ramalhosa, Patrício; Castro, Nuno; Morais, Pedro; Teodosio, Maria; Encarnação, João; Afonso, Inês; Cabral, Sara; Carvalho, Frederico; Dionísio, Maria Ana; Melo, Ricardo; Amorim, Ana; Sousa, António; Cidade, Tiago; Chainho, Paula
Large-scale data synthesis is a foundation pillar of modern macroecology, necessary for transitioning fragmented regional data into scalable biosecurity frameworks. This study presents the outcomes of a coordinated nationwide effort to analyze marine Non-Indigenous Species (NIS) records across mainland Portugal, the Azores and Madeira archipelagos using a dual-framework design. Our goals were to update the morphologically confirmed NIS inventory, identify primary introduction pathways, examine temporal and spatial trends, and evaluate genetic database coverage. We delivered an updated checklist comprising 231 morphologically confirmed marine NIS, including five new regional records. Spatial analysis reveals distinct biogeographical divergence: mainland NIS predominantly originate from the temperate North Pacific, probably due to shipping and aquaculture vectors, whereas archipelago NIS originate from the North Atlantic. This pronounced regional variability in pathway dynamics underscores the need for spatially specific management rather than uniform national policies. Also, a systematic genetic gap analysis showed that 71% of these species are cataloged in global repositories, whereas only 12.5% feature locally sourced sequences. To bridge this gap, the second framework introduces a precautionary molecular watchlist of 22 species detected exclusively via DNA-based methods awaiting morphological confirmation. Ultimately, this dual-framework structure demonstrates how integrating taxonomy with provisional molecular data provides a reliable, data-driven baseline, while moving beyond a localized dataset update to offer a scalable reference frame capable of informing regional and global marine biosecurity frameworks.