01132 - Molecular Pathology - Immunology (Integrated Course) (B)

Learning outcomes

At the end of the course the student will know the mechanisms that lead genomic alterations to cause disease; the student will be able to apply this knowledge to other pathologies. The student will learn the basic principles of carcinogenesis, the biology of tumor cells and tumor microenvironment, the origin and evolution of tumors, cancer prevention and innovative approaches to target cancer cells.

Course contents

The course of Molecular Pathology consists of a "Genetic Pathology" module (2 credits, Professor Dall’Olio) and an Oncology module (3 credits, Professor Ferracin). The following program refers to the entire course.

 

ONCOLOGY

Neoplasms: definitions and classifications. Basic oncology and medical oncology. Human tumor epidemiology. Benign and malignant tumors. Cancer as a genetic disease. Primary, secondary and tertiary cancer prevention.

Pathogenesis of tumors: oncogenes and tumor suppressor genes. Genetic predisposition. Causes of cancer: biological and molecular mechanisms of physical, chemical and biological carcinogenesis. The tumor phenotype: growth, differentiation, cell death, genomic instability. Morphological and metabolic characteristics of tumors and of the tumor microenvironment. Evolution of neoplasms: clonality, heterogeneity and progression. Angiogenesis and metastasis. Tumor-host interaction: the immune response and systemic alterations.

Basics of cancer therapy. Molecular and biological fundamentals and mechanisms of radiation, pharmacological, biological, immunological and gene therapy for tumors.

 

GENETIC PATHOLOGY

Mutations: types and causes and their pathogenetic effects. Outlines on multifactorial and mithochondrial diseases. DNA damage repair mechanisms: NER, BER, non-homologous end joining (NHEJ), homologous recombination and mismatch repair. The network of genotoxic damage detection. Chromosomal disorders: Del22q11 syndrome. Mendelian disorders. Alterations of cytoskeleton proteins: Duchenne and Becker dystrophies. Alterations of extracellular matrix proteins: collagen diseases (osteogenesis imperfecta). Alterations of lysosomal enzymes: The Tay-Sachs disease. Alterations of ion channels: cystic fibrosis. Epigenetic and postranscriptional mechanisms of control of gene expression: Genomic imprinting: Prader-Willi and Angelman syndromes. Disease caused by trinucleotide repeat expansions: fragile-X syndrome Huntington corea and locus C9orf72. Molecular techniques. Hereditary cancer syndromes: “gatekeeper” genes: retinoblastoma and the Knudson's hypothesis. Role of Rb protein. Familial adenomatous polyposis: the role of APC protein in the cell cycle control. Gastric cancer and E-cadherin in the epithelial to mesenchymal transition.The concept of loss of heterozygosis (LOH). The von Hippel Lindau syndrome and the hypoxia responsive mechanisms. “Caretaker” genes. Role of ATM and p53 genes. Alterations of gatekeeper genes. Xeroderma pigmentosum, ataxia telangiectasia, hereditary breast cancer, Li-Fraumeni syndrome, non-polyposis colorectal cancer. Alterations of microsatellite sequences. Multiple endocrine neoplasia (MEN).

Readings/Bibliography

Lecture slides

P-L Lollini – Cellular and molecular oncology (open access book available in Virtuale website)

Recommended:

• Pardi e Di Fiore, Patogenesi. Ed. Piccin
• Robbins & Cotran Pathologic Basis of Disease 9th edition

Consultation:

• Weinberg The Biology of Cancer, Second Edition.
• R G.M. Pontieri, Patologia generale e fisiopatologia generale. Vol. 1, VI edizione (2018) ed. Piccin
• Rubin’s Pathology 7th, Wolters Kluwer ed

Teaching methods

The course is structured in 5 CFU (40 hours) of frontal lectures, supported by PowerPoint slides, of which 16 hours of Genetic Pathology (Dall'Olio) and 24 of Oncology (Ferracin). Slides available on "virtuale.unibo.it".

Assessment methods

The oral exam at the end of the course aims to evaluate the achievement of the didactic objectives and therefore the knowledge of the main notions of:

• genetic pathology

• oncology, with particular emphasis on molecular oncology.

The mark is expressed as the average of the marks of Genetic Pathology and Oncology.

The purpose of the oral exam is to verify the student's ability to apply his or her knowledge and to make the necessary logical-deductive connections.

Gradation of the final grade:

Insufficient: lack of preparation. Serious and repeated conceptual errors.

18-19: knowledge of the basic concepts without serious gaps. Exposition of concepts and language as a whole acceptable.

20-24: knowledge of the basic concepts without gaps. Ability to analyze and link in partial autonomy. Exposure of discrete concepts and language.

25-29: preparation of good or very good level or even excellent preparation but with inaccuracies in the presentation that compromise the achievement of full marks. Ability to analyze and link independently. Exposure of concepts in the right succession and mastery of the language.

30-30L: full preparation, consolidated and without inaccuracies on the topics covered in the course. Ability to promptly frame the topic. Ability to analyze and connect independently. Concepts in the right succession and full command of the specific language.

Teaching tools

Lectures, textbooks, course attendance.

Teaching slides and materials are available on line at Unibo e-learning website virtuale.unibo.it upon registration with Unibo institutional credentials.

Office hours

See the website of Manuela Ferracin