14 documents found, page 1 of 2
Comprehensive genomic profiling of cell-free circulating tumor DNA detects resp...
Silveira, Catarina; Sousa, Ana Carla; Corredeira, Patrícia; Martins, Marta; Sousa, Ana Rita; Da Cruz Paula, Arnaud; Selenica, Pier; Brown, David N.Analysis of cell-free circulating tumor DNA obtained by liquid biopsy is a non-invasive approach that may provide clinically actionable information when conventional tissue biopsy is inaccessible or infeasible. Here, we followed a patient with hormone receptor-positive and human epidermal growth factor receptor (HER) 2-negative breast cancer who developed bone metastases seven years after mastectomy. We analyze...
Hotspot activating PRKD1 somatic mutations in polymorphous low-grad adenocarcin...
Weinreb, Ilan; Piscuoglio, Salvatore; Martelotto, Luciano G.; Waggott, Daryl; Ng, Charlotte K. Y.; Perez-Ordonez, Bayardo; Harding, Nicholas J.Polymorphous low-grade adenocarcinoma (PLGA) is the second most frequent type of malignant tumor of the minor salivary glands. We identified PRKD1 hotspot mutations encoding p.Glu710Asp in 72.9% of PLGAs but not in other salivary gland tumors. Functional studies demonstrated that this kinase-activating alteration likely constitutes a driver of PLGA.
Expression, mutation and copy number analysis of platelet-derived growth factor...
Martinho, Olga; Longatto, Adhemar; Lambros, M. B. K.; Martins, A.; Pinheiro, Céline; Silva, A.; Pardal, F.; Amorim, J.; MacKay, A.; Milanezi, F.BACKGROUND: Malignant gliomas are the most prevalent type of primary brain tumours but the therapeutic armamentarium for these tumours is limited. Platelet-derived growth factor (PDGF) signalling has been shown to be a key regulator of glioma development. Clinical trials evaluating the efficacy of anti-PDGFRA therapies on gliomas are ongoing. In this study, we intended to analyse the expression of PDGFA and its...
Molecular alterations of KIT oncogene in gliomas
Gomes, Ana L.; Reis-Filho, Jorge S.; Lopes, José M.; Martinho, Olga; Lambros, Maryou B. K.; Martins, Albino; Schmitt, Fernando; Pardal, FernandoGliomas are the most common and devastating primary brain tumours. Despite therapeutic advances, the majority of gliomas do not respond either to chemo or radiotherapy. KIT, a class III receptor tyrosine kinase (RTK), is frequently involved in tumourigenic processes. Currently, KIT constitutes an attractive therapeutic target. In the present study we assessed the frequency of KIT overexpression in gliomas and i...
Caveolin 1 is overexpressed and amplified in a subset of basal-like and metapla...
Savage, Kay; Lambros, Maryou B. K.; Robertson, David; Jones, Robin L.; Jones, Chris; Mackay, Alan; James, Michelle; Hornick, Jason L.The distribution and significance of caveolin 1 (CAV1) expression in different breast cell types and role in breast carcinogenesis remain poorly understood. Both tumor-suppressive and oncogenic roles have been proposed for this protein. The aims of this study were to characterize the distribution of CAV1 in normal breast, benign breast lesions, breast cancer precursors, and metaplastic breast carcinomas; to ass...
Basal-like breast carcinomas: clinical outcome and response to chemotherapy
Banerjee, S,; Reis-Filho, Jorge S.; Ashley, S.; Steele, D.; Ashworth, A.; Lakhani, S. R.; Smith, I. E.Background: Grade-III invasive ductal carcinomas of no special type (IDCs-NST) constitute a heterogeneous group of tumours with different clinical behaviour and response to chemotherapy. As many as 25% of all grade-III IDCs-NST are known to harbour a basal-like phenotype, as defined by gene expression profiling or immunohistochemistry for basal cytokeratins. Patients with basal-like breast carcinomas (BLBC) are...
Fluorescence in situ hybridization, comparative genomic hybridization, and othe...
Reis-Filho, Jorge S.; de Landér Schmitt, Fernando CarlosOver the last 20 yr, the introduction of immunocytochemistry as a diagnostic tool has dramatically revolutionized diagnostic pathology. With the introduction of molecular methods as part of the diagnostic armamentarium, the practicing pathologist is facing the new challenge of grasping novel concepts of the molecular cytogenetics era. Herein, we review the diagnostic contribution of ancillary molecular techniqu...
Metaplastic breast carcinomas exhibit EGFR, but not HER2, gene amplification an...
Reis-Filho, Jorge S.; Milanezi, Maria Fernanda Grillo; Carvalho, Silvia; Simpson, Pete T.; Steele, Dawn; Savage, Kay; Lambros, Maryou B. K.Metaplastic breast carcinomas constitute a heterogeneous group of neoplasms, accounting for less than 1% of all invasive mammary carcinomas. Approximately 70-80% of metaplastic breast carcinomas overexpress the epidermal growth factor receptor (EGFR). Human epidermal growth factor receptor (HER)2 and EGFR have attracted much attention in the medical literature over the past few years owing to the fact that huma...
The molecular genetics of breast cancer: the contribution of comparative genomi...
Reis-Filho, Jorge S.; Simpson, Peter T.; Gale, Theodora; Lakhani, Sunil R.Comparative genomic hybridization (CGH) has been the technique of choice over the last 10 years for mapping DNA copy number changes in human tumors. Here we review the literature to demonstrate how CGH has contributed to the comprehension of molecular aspects of breast tumorigenesis. At least two distinct molecular pathways of breast cancer have been characterized that show a strong correlation with histologica...
Bilateral gonadoblastomas in a dog with mixed gonadal dysgenesis
Reis-Filho, Jorge S.; Ricardo, S.; Gärtner, F.; Schmitt, F. C.Gonadoblastomas are rare mixed germ cell neoplasms, which are frequently diagnosed in testes excised for other reasons. In human patients these tumours are usually associated with undescended testes or dysgenetic gonads. This report describes a 10-year-old male dog with mixed gonadal dysgenesis ("streak testis" on the right side and testis on the left side) and bilateral gonadoblastomas. Immunohistochemical ana...