01132 - Molecular Pathology - Immunology (Integrated Course)

Learning outcomes

At the end of the course the student: - knows the mechanisms that lead genomic alterations to cause disease; the tumor phenotype, the etiopathogenesis and the natural history of neoplasms in a perspective of prevention and innovative preclinical approaches to the control of neoplastic disease. - will be able to apply the knowledge of the basic mechanisms of pathogenesis to specific pathologies.

Course contents

ONCOLOGY (Module I)

General, definitions and classifications. Basic Oncology and Medical Oncology. Dimension of the tumor problem. Benign tumors and malignant tumors. Biological characteristics of cancer

Cancer as a genetic disease. Oncogenes and "gatekeeper" and "caretaker" tumor suppressor genes. Mechanisms of activation of oncogenes or inactivation of tumor suppressor genes. Effects of activations / inactivations. Therapeutic implications of oncogenes and tumor suppressor genes. Genetic predisposition.

The tumor phenotype. Growth, Differentiation, Cell death. Genomic instability. Morphological and metabolic characteristics.

Natural history. Monoclonality, heterogeneity. Preneoplastic lesions. Progression.

The causes of cancer. Endogenous and exogenous carcinogens. Biological and molecular mechanisms of physical, chemical and biological agent carcinogenesis.

Cancer epidemiology. Primary, secondary and tertiary cancer prevention. Chemoprevention. Immunoprevention.

Tumor-host interactions. Angiogenesis. The metastatic process. Paraneoplastic syndromes. Cancer immunology.

Basics of cancer therapy. Fundamentals and molecular and biological mechanisms of radiation, pharmacological, biological, immunological and gene therapies of tumors.

GENETIC PATHOLOGY (Module II)

Mutations: types and causes and their pathogenetic effects. Outlines on multifactorial and mithochondrial diseases. DNA damage repair mechanisms: Base-Excision Repair (BER), Nucleotide-Excision Repair (NER), Mismatch Repair (MMR), Homologous Recombination (HR), Non-Homologous End Joining (NHEJ). 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. Chromosomal disorders: Del22q11 syndrome. Alterations of ion channels: cystic fibrosis. Epigenetic and pos-transcriptional 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

ONCOLOGY (Module I)

Robbins. Kumar & Klatt. Il manuale di patologia generale e anatomia patologica. Edra Masson
Pontieri, Patologia generale, Piccin

MORE INFORMATION:
Genetica medica, Strachan & Read, Genetica molecolare umana, UTET
La genetica in medicina, Thompson & Thompson,UTET

Selected scientific literature

GENETIC PATHOLOGY (Module II)

Slides of the lessons in pdf format

P-L Lollini – Cellular and molecular oncology

Suggested book:

G.M. Pontieri, Patologia generale e fisiopatologia generale. Vol. 1, VI edizione (2018) ed. Piccin

Teaching methods

Lecture with ppt presentations

Assessment methods

The Molecular Pathology course consists of a part of Genetic Pathology (2 credits) and a part of Oncology (3 credits - Dr. Santoro).

Verification of learning takes place through the final exam only.

The exam is unique and aims to evaluate the achievement of the didactic objectives and therefore the knowledge of the main notions of: genetic genetics oncology, with particular emphasis on molecular oncology.

The written exam consists of 12 multiple choice questions (8 of Oncology and 4 of Genetic Pathology) and two open questions (1 of Oncology and 1 of Genetic Pathology) to be answered in 90 minutes. The exam takes place on the computer in the computer room. The final grade is calculated as the arithmetic average. Multiple questions are each worth 1 point, open questions are each worth 10 points. If sufficient (6/10) is not reached in one of the two open questions, the task will be deemed insufficient.

The final grade of the Integrated Course of Molecular Pathology and Immunology with the summary of the final assessments of the courses of Molecular Pathology and Immunology.

The assessments obtained in the various tests have no validity deadlines (but it is advisable not to let more than a year pass) and are integrated to obtain the final exam grade. The vote is expressed out of thirty on the average of the marks. The exam is passed if a grade of not less than 18/30 is obtained in each course.

Teaching tools

The teaching material presented in class will be made available on https://virtuale.unibo.it/ in electronic format.

Office hours

See the website of Aurelia Santoro

See the website of Giorgia Gri