01132 - Molecular Pathology - Immunology (Integrated Course)

Learning outcomes

By the end of the course, students will:

• understand the mechanisms by which genomic alterations contribute to disease development, as well as the tumor phenotype, the etiopathogenesis, and the natural history of neoplasms, with a focus on prevention and innovative preclinical approaches to cancer control;

• be able to apply their knowledge of the basic mechanisms of pathogenesis to specific diseases.

Course contents

ONCOLOGY

Overview of basic and medical oncology, including tumor classifications and the scale of the cancer problem. Distinction between benign and malignant tumors and their biological features.

Cancer as a genetic disease: roles of oncogenes and tumor suppressor genes ("gatekeepers" and "caretakers"), mechanisms of gene activation/inactivation, and therapeutic implications. Genetic predisposition to cancer.

Key tumor characteristics such as growth, differentiation, cell death, and genomic instability. Natural history of tumors including monoclonality, heterogeneity, preneoplastic lesions, and progression.

Causes of cancer, including exogenous and endogenous carcinogens, and the biological and molecular mechanisms of carcinogenesis.

Cancer epidemiology and prevention strategies: primary, secondary, and tertiary prevention, chemoprevention, and immunoprevention.

Tumor-host interactions, angiogenesis, metastasis, paraneoplastic syndromes, and tumor immunology.

Foundations of cancer treatment, covering molecular and biological mechanisms of radiotherapy, pharmacological, biological, immunological, and gene therapies.

GENETIC PATHOLOGY

Introduction to mutation types, causes, and their pathogenic effects. Modes of inheritance for autosomal dominant, autosomal recessive, and X-linked diseases. Brief overview of multifactorial and mitochondrial diseases.

DNA repair mechanisms including BER, NER, MMR, homologous recombination, and non-homologous end joining.

Examples of Mendelian inherited diseases such as hereditary kidney cysts, familial hypercholesterolemia, osteogenesis imperfecta, sickle cell anemia, cystic fibrosis, and muscular dystrophies.

Chromosomal disorders, including 22q11.2 deletion syndrome.

Epigenetic and post-transcriptional regulation of gene expression, including imprinting disorders like Prader-Willi and Angelman syndromes, and diseases caused by sequence expansions like Fragile X syndrome and Huntington’s disease.

Overview of hereditary cancer syndromes, the role of "gatekeeper" and "caretaker" genes, and key diseases such as retinoblastoma, hereditary colorectal and gastric cancers, von Hippel-Lindau disease, and syndromes involving genes like ATM and p53.

Readings/Bibliography

ONCOLOGIA

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

SUPPLEMENTARY MATERIAL:
Genetica medica, Strachan & Read, Genetica molecolare umana, UTET
La genetica in medicina, Thompson & Thompson,UTET

Selected scientific papers.

PATOLOGIA GENETICA

Slides of the lessond in .pdf format.

P-L Lollini – Cellular and molecular oncology

Suggested:

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

Teaching methods

Lectures with PowerPoint presentations.
Administration of quizzes via Wooclap and discussion of the results.

Assessment methods

Learning is assessed solely through the final exam. The exam aims to evaluate the achievement of the educational objectives and the knowledge of the main concepts in:

• Genetic pathology

• Oncology, with particular emphasis on molecular oncology.

The exam is written and consists of 12 multiple-choice questions and two open-ended questions (one in Oncology and one in Genetic Pathology), to be completed within 90 minutes. The exam is conducted on a computer in a computer lab.

The final grade is calculated as the arithmetic mean. Each multiple-choice question is worth 1 point, while each open-ended question is worth 10 points. If a minimum score of 6 out of 10 is not achieved in either of the open-ended questions, the exam will be considered failed.

The final grade is expressed on a 30-point scale based on the average scores. The exam is passed if a score of at least 18/30 is obtained in each subject.

Students with learning disorders and\or temporary or permanent disabilities: please, contact the office responsible (https://site.unibo.it/studenti-con-disabilita-e-dsa/en/for-students ) as soon as possible so that they can propose acceptable adjustments. The request for adaptation must be submitted in advance (15 days before the exam date) to the lecturer, who will assess the appropriateness of the adjustments, taking into account the teaching objectives.

Teaching tools

The teaching materials presented during the lectures will be made available in electronic format at https://virtuale.unibo.it/ .

Office hours

See the website of Aurelia Santoro