Medical Biotechnology

Molecular pathology and molecular diagnosis: general principles and techniques. Molecular analysis of formalin-fixed, paraffin embedded tissues. Papilloma Virus infection and human diseases: cellular and molecular mechanisms, natural history, pathology and molecular diagnosis. Role of molecular diagnosis in soft tissue sarcomas. Molecular analysis in the diagnosis and prognosis of tumors of the haematopoietic and lymhoid tissues. Molecular analysis in the diagnosis and study of genetic skeletal disease, in particular Fibrous dysplasia of bone. Histological and molecular diagnosis of major malignant epithelial neoplasms: pancreatic ductal adenocarcinoma, non–small cell lung carcinoma, colorectal carcinoma, and breast carcinoma. Analysis of preneoplastic lesions, molecular pathogenesis, and the role of the tumor microenvironment. Study of histological markers of prognosis and therapeutic response. Insights into translational research, from bench to bedside.

In order to understand properly the teaching content and to achieve the expected learning objectives, at the beginning of the didactic activity the student must possess the basic knowledge acquired during the frequency of previous courses in the field of cellular and molecular biology, biochemistry, embryology, anatomy, histology, general pathology and pathological anatomy. Prerequisites: see https://corsidilaurea.uniroma1.it/it/corso/2016/biotecnologie-mediche/insegnamenti/pages/86152 (Regolamento Didattico del Corso di Laurea Magistrale Interfacoltà in Medical Biotechnology).

Bruns DE, Burtis CA, Ashwood ER. Fundamentals of Molecular Diagnostics. Sanders Elsevier. Coleman WB, Tsongalis WB. Molecular Pathology. Academic Press.

The teaching is based essentially on frontal lessons characterized by a strong interactive component between the teacher and the students. Other teaching methods may include working groups or individual activities focused on the analysis of methods and results of publications in international scientific journals.

The attendance is checked by the teacher by using updated lists provided by the Academic Office that will be signed by the students. The certificate of attendance of the teaching course is required for the student to be admitted to the final test.

The assessment consists of an oral exam with questions related to the course program and takes into account: a) knowledge of the topics related to the questions; b) adequacy of the answer to each question based on the expected skills at the end of the course; c) the logic of the answers; d) use of an appropriate language.

Scientific articles related to topics included in the program will be recommended for integrative purposes to frontal lessons and adopted texts.

The teaching is based essentially on frontal lessons characterized by a strong interactive component between the teacher and the students. Other teaching methods may include working groups or individual activities focused on the analysis of methods and results of publications in international scientific journals.

Molecular pathology and molecular diagnosis: general principles and techniques. Molecular analysis of formalin-fixed, paraffin embedded tissues. Human Papilloma Virus infection and human pathology: cellular and molecular mechanisms, natural history, pathology and molecular diagnosis, with particular reference to the infection of the female genital tract. Molecular analysis in the diagnosis and prognosis of tumors of the haemolymphopoietic system and sost tissues. Molecular analysis in the diagnosis and study of genetic skeletal disease, in particular Fibrous dysplasia of bone.

In order to understand properly the teaching content and to achieve the expected learning objectives, at the beginning of the didactic activity the student must possess the basic knowledge acquired during the frequency of previous courses in the field of cellular and molecular biology, biochemistry, embryology, anatomy, histology, general pathology and pathological anatomy. Prerequisites: see the site of the Course of the Study.

Robbins e Cotran. Le basi patologiche delle malattie. Edra Masson. Leonard DGB (ed). Molecular Pathology in Clinical Practice. Springer. Coleman WB and Tsongalis GJ. Molecular Pathology. The molecular basis of human disease. Academic Press. last editions

The attendance is checked by the teacher by using updated lists provided by the Academic Office that will be signed by the students. The certificate of attendance of the teaching course is required for the student to be admitted to the final test.

The assessment consists of an oral exam with questions related to the course program and takes into account: a) knowledge of the topics related to the questions; b) adequacy of the answer to each question based on the expected skills at the end of the course; c) the logic of the answers; d) use of an appropriate language.

Scientific articles related to topics included in the program will be recommended as a study tool for integrative purposes to frontal lessons and adopted texts.

The teaching is based on frontal lessons characterized by a strong interactive component between the teacher and the students. Other teaching methods may include working groups or individual activities focused on the analysis of methods and results of publications in international scientific journals.

The course is structured into four modules, each lasting 4 hours. 1. Fundamentals of Histopathological and Molecular Diagnostics (4 hours) Principles of preparation and interpretation of histological and cytological samples. Basic molecular diagnostic techniques applied to pathology (immunohistochemistry, in situ hybridization, PCR, sequencing). Fundamental concepts of precancerous lesions: metaplasia, dysplasia, carcinoma in situ, invasive carcinoma. Grading (tumor differentiation classification) and Staging (TNM) as prognostic and predictive tools. 2. Pancreatic Ductal Adenocarcinoma (PDAC) (4 hours) Etiopathogenesis: genetic and environmental risk factors. Molecular mechanisms of pancreatic carcinogenesis: driver mutations (KRAS, TP53, CDKN2A, SMAD4). Histological and molecular classification: subtypes and clinico-pathological correlations. Analysis of the tumor microenvironment: immune cells, stroma, and desmoplasia. Targeted therapies and emerging treatments. Translational approaches: preclinical models and biomarkers. 3. Non-Small Cell Lung Carcinoma (NSCLC) (4 hours) Etiopathogenesis: exposure to carcinogens and early molecular alterations. Molecular carcinogenesis: EGFR, ALK, KRAS, ROS1, MET, BRAF. Histological and molecular classification: adenocarcinoma, squamous cell carcinoma, large cell carcinoma. Study of the tumor microenvironment: inflammation, immune evasion, PD-L1. Targeted therapies and immunotherapy. Translational research: ex vivo models and organoids. 4. Breast and Colorectal Carcinomas (4 hours) Breast: Molecular carcinogenesis (BRCA1/2, HER2, PIK3CA, TP53). Histopathological (ductal, lobular carcinoma) and molecular classification (Luminal A/B, HER2-positive, Triple negative). Tumor microenvironment and immune response. Personalized therapies and precision medicine. Translational perspectives: pharmacogenomics, molecular signatures. Colorectal: Adenoma-carcinoma sequence and mutational pathways (APC, KRAS, TP53, mismatch repair). Histological and molecular classification (CMS: Consensus Molecular Subtypes). Tumor microenvironment and microsatellite instability. Targeted therapies and immunotherapy. Translational approaches: use of predictive biomarkers and integration of molecular testing into clinical practice.

To successfully engage with the content of the course, it is essential that the student possesses a solid background in the following areas: Histology: Understanding the microscopic structure of tissues is crucial for recognizing morphological alterations, both in physiological and pathological conditions. Cell and Molecular Biology: Knowledge of cellular mechanisms, molecular pathways, and gene expression processes forms the foundation for interpreting molecular diagnostic techniques and understanding carcinogenesis at the molecular level. General Pathology: Familiarity with the fundamental mechanisms of disease (such as inflammation, cellular damage, neoplasia, and immune responses) is indispensable for comprehending and contextualizing the pathological processes examined in specific organs and systems. These disciplines constitute the scientific foundation upon which Molecular Pathology is built and are essential for understanding the rationale behind the use of molecular diagnostic tools in the clinical setting.

The course materials provided by the instructor, which include a selection of key topics and theoretical insights, serve as the main study material. These materials are accompanied by bibliographic references, including articles and scientific resources accessible via PubMed. The bibliographic references are cited during the lectures and are available for students' further reading and in-depth study.

Examination method: oral assessment based on the topics discussed during the lectures.