1,721,132 research outputs found
EGFR mutationalstatusin Sardinian patients with lung adenocarcinoma
Full text linkAim.Assessment of the EGFR mutational status has become in recent years a crucial step in the molecular classification of patients with lung cancer. The aim of this study was to investigate the EGFR mutational status in Sardinian patients with lung adenocarcinoma.Materials and methods.Five-hundred fifteen Sardinian patients with histologically-proven lung adenocarcinoma were included into the study. Formalin-fixed paraffin embedded tissue samples were used for mutation analysis; the content of neoplastic cells was evaluated by light microscopy. Genomic DNA was isolated using a standard protocol and the coding sequence and splice junctions of exons 18, 19 and 21 in EGFR gene were screened for mutations by direct automated sequencing.Results.The mean age of the patients examined was 64.9 years; 357 (69.3%) of them were males. Four-hundred twenty-nine (83.3%) tissue samples were obtained by transthoracic or endoscopic biopsy and the remaining by surgery. Four-hundred fifty-six (88.5%) samples were from primitive lung adenocarcinomas, while 59 (11.5%) were from metastatic lesions. EGFR mutations occurred in 59 cases (11.5%); exon 18 mutations were detected in 1 case (1.7%), whereas exon 19 and 21 mutations in 30 (51%) and 28 (47.3%) cases respectively. EGFR mutations, especially those of exon 19, were significantly more frequent in females and non-smokers than in males and smokers.Conclusions.Proportions of EGFR mutations in Sardinian patients with lung adenocarcinoma were similar to those reported for other Caucasian populations. Females and non-smokers presented more frequently EGFR mutations, especially in exon 19, further confirming data from literature
Clinical Molecular Pathology and Treatment Developments in Advanced Uveal Melanoma: State of the Art
No full textUveal melanoma (UM) is the most common intraocular cancer, with approximately 5.2 individuals per million affected annually in the United States. It represents approximately 3% of the global malignant melanoma cases, accounting for 80% of the overall noncutaneous melanomas. Clinically, it remains silent in about 30% of the cases; when symptomatic, it generally causes metamorphopsia (painless loss or distortion of vision) and/or photopsia (flashing or flickering of light in the visual field). Discoloration of the iris, astigmatism, glaucoma, and even blindness are other, less common clinical manifestations. Several pathophysiological mechanisms underlie the development of UM. Genetic mutations, involving especially the G protein subunit alpha q (GNAQ), guanine nucleotide-binding protein subunit alpha-11 (GNA11), BRCA1 associated deubiquitinase 1 (BAP1), splicing factor 3b subunit 1 (SF3B1), and eukaryotic translation initiation factor 1A, X-linked (EIF1AX) genes as well as the MAPK/ERK signaling pathway genes, have been largely associated with the development of UM. Chromosomal aberrations, inflammatory and immunological alterations are often concurrent factors for the development and progression of UM. Therapies targeting specific genetic alterations and immunotherapy agents have been recently developed and introduced in clinical practice for the management of advanced-stage UMs. This review aims to present the latest advances in the clinical molecular pathology of UM, along with the resulting targeted, immunological, and other therapies that have been introduced or are currently under investigation
VATS Thymectomy with 3D Vision: A Chance to Further Improve the Outcomes of Thymus Minimally Invasive Surgery
No full textManagement of thyroid Hurthle cell neoplasms: a single centre experience and literature review = Management delle neoplasie a cellule di Hurthle della tiroide: esperienza di un singolo centro e revisione della letteratura
Full text linkAim.We report our experience on the management
of Hurthle cell neoplasms (HCNs) of the thyroid and a review of the literature in order to describe the most relevant clinical, diagnostic, biologic and therapeutic aspects. Materials and Methods. We retrospectively reviewed the clinical records of 15 consecutive patients with HCN. The male/female ratio was 1:4 and the mean age was 53.8 years. Fourteen patients underwent total thyroidectomy and one patient lobectomy. Two patients were lost to follow up. The mean follow up time was 54 months. Results. Eleven Hurthle cell adenomas and 4 carcinomas were found. At
the time of initial surgical evaluation 9 patients (60%) were symptomatic, with hyperthyroidism and dysphagia being the most frequent manifestations. Only in 6 (40%) cases the diagnosis was obtained by preoperative fine needle aspiration biopsy. Among patients with Hurthle cell adenoma and carcinoma the mean age was 51 and 62 years respectively and the mean lesion size 1.6 and 3.8 cm respectively. No cases of death or recurrence were registered.Conclusions.Clinical manifestations are similar to those for other differentiated thyroid neoplasms. Patients with Hurthle cell carcinoma presented a mean age and a mean tumor size greater than those with Hurthle cell adenoma. Our data suggest that adenomas have not a malignant potential; nevertheless surgical resection is necessary to obtain a precise evaluation of eventual infiltrative events. Surgical resection is also the treatment of choice for the treatment of carcinomas with total thyroidectomy representing the best surgical option.Obiettivo. Riportiamo in questo articolo la nostra esperienza nel management delle neoplasie a cellule di Hurthle (HCNs) ed una revisione della letteratura allo scopo di sottolineare i più importanti aspetti clinici, diagnostici, biologici e terapeutici.Materiali e metodi. Abbiamo esaminato i dati clinici di 15 pazienti consecutivi con HCN. L’età media dei pazienti era di 53,8 anni e il rapporto maschi/femmine 1:4. Quattordici pazienti sono stati sottoposti a tiroidectomia totale ed uno a lobectomia. Due pazienti sono stati persi al follow up. Il tempo medio di follow up era di 54 mesi.Risultati. Undici pazienti sono stati trovati affetti da adenoma a cellule di Hurthle e 4 da carcinoma. Nove pazienti (60%) erano sintomatici, e solo in 6 (40%) casi la diagnosi è stata ottenuta tramite biopsia con ago aspirato. L’età media dei pazienti affetti da adenoma era 51 anni e di quelli con carcinoma 62. La dimensione media delle lesioni era superiore nei pazienti con carcinoma (3,8 cm verso 1,6 in quelli con adenoma). Non sono stati osservati decessi o recidive.Conclusioni. Abbiamo osservato una differenza di età e di dimensione delle lesioni tra i pazienti affetti da adenoma e quelli affetti da carcinoma. I nostri dati suggeriscono che gli adenomi a cellule di Hurthle non hanno potenziale maligno, tuttavia l’asportazione chirurgica è necessaria per la valutazione di eventuali eventi infiltrativi. Il trattamento chirurgico con tiroidectomia totale o resezioni più ampie ove necessario rappresenta il trattamento di scelta
per i carcinomi
Mammary-like adenocarcinoma of the vulva: a rare case report with next generation sequencing
No full text: Vulvar adenocarcinomas are rare tumors, representing approximately 5% of vulvar cancers. Mammary-like adenocarcinomas of the vulva (MLAV) are extremely rare, and their molecular features are poorly described in the scientific literature. We report a case of an 88-year-old woman affected by MLAV with comedo-like features, with a detailed description of the pathological, immunohistochemical and molecular features. Immunohistochemistry (IHC) showed strong staining for cytokeratin 7, GATA3, androgen receptor, GCFPD15, and weak staining for mammaglobin; no staining for Her-2 was found. The proliferation index (Ki-67) was 15%. Molecular testing detected a pathogenic mutation of the AKT1 gene, a likely pathogenic frameshift insertion of the JAK1 gene, and two likely pathogenic frameshift deletions of the KMT2C gene; in addition, two variants of unknown significance (VUS) involving the ARID1A and OR2T4 genes were detected. Finally, two CNVs of the BRCA1 gene were identified
Blood cell count indexes as predictors of outcomes in advanced non-small-cell lung cancer patients treated with Nivolumab
No full textLung cancer is the most common malignancy worldwide. Despite significant advances in diagnosis and treatment, mortality rates remain extremely high, close to incidence rates. Several targeted therapies have been recently introduced for the treatment of non-small cell lung cancer (NSCLC), the most common type of lung cancer. Nivolumab, a monoclonal antibody that targets programmed death-1 (PD-1), was the first immune checkpoint inhibitor approved for the treatment of patients with advanced/metastatic NSCLC not responding to platinum-based chemotherapy. Biomarkers predicting response to these therapies would allow early identification of non-responders and timely implementation of appropriate combination strategies, avoiding inadequate and expensive therapies. The role of the neutrophil to lymphocyte ratio and other blood cell count indexes as possible biomarkers of response has been recently investigated. We discuss the encouraging results reported on the topic, provide new data from our personal experience, and discuss opportunities for further research
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
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