01132 - Molecular Pathology - Immunology (Integrated Course) (AK-A)

Course Unit Page


This teaching activity contributes to the achievement of the Sustainable Development Goals of the UN 2030 Agenda.

Good health and well-being Gender equality Clean water and sanitation

Academic Year 2021/2022

Learning outcomes

At the end of the course the student knows the mechanism through which genomic alterations cause diseases; the phenotype of tumor cells, the origin and natural history of tumors within the framework of cancer prevention and innovative preclinical approaches to the control of cancer; the student is able to apply this knowledge to specific pathologies.

Course contents


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: the Prader-Willi and Angelman syndromes. Disease caused by trinucleotide repeat expansions: fragile-X syndrome Huntington corea and locus C9orf72. Molecular techniques: polymerase chain reaction (PCR), fluorescence in situ hybridization (FISH). Expression and genomic microarray techniques. CRISPR/Cas9. Next Generation Sequencing (NGS). 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. The concept of loss of heterozygosis (LOH). The von Hippel Lindau syndrome and the hypoxia responsive mechanisms. gastric cancer and E-cadherin. “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).


Introduction, definitions and classification. Basic Oncology and Medical Oncology. The size of the problem. Benign and malignant tumors. Tumors are genic diseases. Oncogenes and tumor suppressor genes, "gatekeepers" and "caretakers". Mechanisms of cancer gene activation/inactivation and their consequences. Therapeutic implications of oncogenes and tumor suppressor genes. Genetic predispositions. The neoplastic phenotype. Growth, Differentiation, Cell death. Genomic instability. Morphological and metabolic features. Natural history. Monoclonality, Heterogeneity. Preneoplastic lesions. Progression. The causes of cancer. Exogenous and endogenous carcinogens. Biological and molecular mechanisms of physical, chemical and biological carcinogenesis. Cancer epidemiology. Primary, secondary and tertiary cancer prevention. Chemoprevention. Immunoprevention. Tumor-host relationships. Angiogenesis. The metastatic process. Paraneoplastic syndromes. Tumor immunology. Fundamentals of cancer therapy. Basis and molecular/biological mechanisms of cancer therapy: radiation therapy, drugs, biological and immunological agents, gene therapy.



Note: english-speaking students can use original versions of the books, if available.

Robbins. Kumar & Klatt. Il manuale di patologia generale e anatomia patologica. Edra Masson

Pontieri, Patologia generale, Piccin

Teaching methods


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:

• immune response

• genetic pathology

• oncology, with particular emphasis on molecular oncology.

The final grade of the Integrated Course of Immunology and Molecular Pathology consists of the synthesis of the final assessments of the different courses that compose it. The assessments obtained in the various tests have no validity deadlines and are integrated to obtain the final exam grade.

The mark is expressed out of thirty, through an oral test, on the average of the marks, weighted on the credits, reported in specific questions on topics related to the main objectives of the Integrated Course, consisting of three courses: Immunology (5 CFU), Genetic Pathology and Oncology (5 CFU), for a total of 10 CFUs. The exam is passed if a grade of not less than 18 is obtained in each course.

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

All the slides and other materials used for lectures are available through the Web.

Office hours

See the website of Pier Luigi Lollini