01132 - Molecular Pathology - Immunology (Integrated Course)

Learning outcomes

Upon successful completion of the course, students will be able to:

• understand the molecular mechanisms that regulate genome integrity and gene expression, and how their alteration leads to the development of genetic diseases and neoplasms;

• understand the biological mechanisms underlying neoplastic transformation, tumor progression, and genetic predisposition to cancer;
• know the principal molecular mechanisms involved in the pathogenesis of genetic diseases and neoplasms, as well as their biological and clinical implications;
• be able to interpret the main pathogenic mechanisms of genetic diseases and tumors by applying knowledge of molecular pathology.

Course contents

MOLECULAR ONCOLOGY

The course examines the biological and molecular basis of cancer, illustrating the major mechanisms responsible for neoplastic transformation, tumor progression, and metastatic dissemination.

Fundamental concepts of oncology, tumor classification, and the biological characteristics of benign and malignant neoplasms will be addressed.

The molecular mechanisms of carcinogenesis will be explored in depth, with particular emphasis on the role of oncogenes, tumor suppressor genes, and genes involved in maintaining genomic stability ("gatekeepers" and "caretakers"), the mechanisms leading to their activation or inactivation, and the biological and therapeutic consequences of these alterations.

The Hallmarks of Cancer framework will be discussed, including uncontrolled proliferation, alterations in cell death pathways, genomic instability, metabolic reprogramming, angiogenesis, immune evasion, and metastasis.

The course will also analyze the major causes of cancer, including exposure to physical, chemical, and biological carcinogens, the molecular mechanisms of carcinogenesis, epidemiological aspects, and strategies for primary, secondary, and tertiary prevention, including chemoprevention and immunoprevention.

Finally, the biological basis of the major anticancer therapeutic strategies will be examined, including radiotherapy, chemotherapy, molecularly targeted therapies, immunotherapy, and gene therapy.

GENETIC PATHOLOGY

The course explores the molecular mechanisms by which alterations of the genome and gene expression regulatory systems lead to the development of genetic diseases.

The main types of mutations and their functional consequences on proteins and cellular pathways will be analyzed, with particular attention to loss-of-function, gain-of-function, haploinsufficiency, and dominant-negative mechanisms.

The major systems involved in maintaining genomic integrity and DNA repair will be illustrated, including Base Excision Repair (BER), Nucleotide Excision Repair (NER), Mismatch Repair (MMR), Homologous Recombination (HR), and Non-Homologous End Joining (NHEJ), highlighting their role in the pathogenesis of genetic diseases.

The course will also examine the principal mechanisms regulating gene expression involved in human disease, including epigenetics, genomic imprinting, splicing alterations, and post-transcriptional regulation, illustrating their role in the development of genetic disorders through representative clinical examples.

The molecular basis of genetic diseases will be illustrated through representative models of human disease, including cystic fibrosis, osteogenesis imperfecta, familial hypercholesterolemia, Duchenne muscular dystrophy, lysosomal storage disorders, and chromosomal microdeletion syndromes, highlighting the relationship between molecular alterations, cellular dysfunction, and clinical manifestations.

Readings/Bibliography

Recommended Textbook

• Kumar V, Abbas AK, Aster JC. Robbins and Cotran Pathologic Basis of Disease. 10th ed. Milan: Edra; 2021.

Additional Texts

• Lollini P.L. Cellular and Molecular Oncology, available as a PDF on the Virtuale platform.
• Mainiero F., Misasi R., Sorice M. (eds.). Pontieri – Patologia Generale e Fisiopatologia Generale, 7th Edition, Piccin, 2026.

Further Reading

• Weinberg RA. The Biology of Cancer. Italian edition. Bologna: Zanichelli; 2016.

Teaching methods

Teaching activities integrate lectures with active learning approaches, including formative quizzes, guided discussions, and the analysis of clinicopathological cases. These activities are intended to promote the retrieval and application of knowledge, encourage critical reasoning, and support the integration of disease mechanisms across molecular, cellular, and clinical levels.

In the event of local emergencies, teaching activities may be delivered online through the Microsoft Teams platform.

Assessment methods

Student learning is assessed through a final written examination designed to evaluate achievement of the course learning objectives and acquisition of knowledge in:

• Molecular Oncology;
• Genetic Pathology;
• Medical Genetics.

The examination is computer-based, administered through the EOL platform in a computer laboratory, lasts 90 minutes, and includes:

• 12 multiple-choice questions, of which:
• 8 concern Molecular Oncology;
• 4 concern Genetic Pathology;
• 2 semi-structured questions on Medical Genetics;
• 2 open-ended questions, one on Molecular Oncology and one on Genetic Pathology.

The use of AI is not allowed during exams. Any use constitutes a violation of academic integrity.

Grading Criteria

Each multiple-choice question is worth 1 point.

Each semi-structured Medical Genetics question is worth 2 points.

Each open-ended question is worth 8 points.

The examination is graded on a maximum of 32 points (including 2 bonus points for honors distinction).

To pass the examination, students must achieve a satisfactory performance (at least 5 out of 8 points) in both open-ended questions. Failure to achieve a passing score in either open-ended question results in failure of the entire examination.

Since the Medical Genetics questions contribute 4 points to the overall score, failure to answer them limits the maximum achievable grade to 26/30 (excluding the 2 bonus points for honors distinction).

The examination is passed with a minimum grade of 18/30.

The grade obtained represents the overall assessment for Molecular Pathology (5 ECTS credits) and Medical Genetics (1 ECTS credit), for a total of 6 ECTS credits.

The final grade for the integrated course will be calculated as a weighted average between this assessment (6 ECTS credits) and the grade obtained in Immunology (5 ECTS credits) according to the following formula:

Final Integrated Course Grade = [(Molecular Pathology and Medical Genetics Grade × 6) + (Immunology Grade × 5)] / 11

Students with Specific Learning Disorders (SLD) or temporary or permanent disabilities are encouraged to contact the University's dedicated support office in advance (https://site.unibo.it/studenti-con-disabilita-e-dsa/it).

The Office will propose any necessary accommodations, which must be submitted to the course instructor for approval at least 15 days before the examination. The instructor will assess their appropriateness in relation to the learning outcomes of the course.

Teaching tools

The primary teaching resource consists of lecture slides presenting the key concepts and learning objectives that form the essential knowledge base for students. The lecture slides will be made available through the VIRTUALE online learning platform.

Students will also be required to review supporting scientific articles (primarily in English) that provide background knowledge and further insight into the most important concepts discussed during the lectures. These materials will also be available through VIRTUALE and are considered an integral part of the learning resources for the course.

Students are expected to access, download, and study all supporting materials made available on VIRTUALE as part of their independent learning activities.

Office hours

See the website of Giorgia Gri