01132 - Molecular Pathology - Immunology (Integrated Course)

Learning outcomes

Upon completion of the course the student:
- knows the mechanisms that lead genomic alterations to cause disease; is familiar with the tumor phenotype, etiopathogenesis, and natural history of neoplasms from a perspective of prevention and innovative preclinical approaches suitable for the control of neoplastic disease;
- can apply knowledge of basic mechanisms of pathogenesis to specific diseases.

Course contents

The Molecular Pathology course consists of a part of Genetic Pathology (2 credits) and a part of Oncology (3 credits). The following syllabus refers to the entire course.
GENETIC PATHOLOGY
Types and causes of mutation and their pathogenetic effects. Mode of transmission of autosomal dominant and recessive and X-linked diseases. Hints on multifactorial and mitochondrial diseases. Mechanisms of repair of genotoxic damage: Base-Excision Repair (BER), Nucleotide-Excision Repair (NER), mismatch repair (MMR), homologous recombination (HR), Non Homologous End Joining" (NHEJ). Diseases with classical Mendelian transmission: hereditary renal cystic diseases, familial hypercholesterolemia, osteogenesis imperfecta, sickle cell anemia, cystic fibrosis, Duchenne and Becker muscular dystrophies, lysosomal storage diseases (hint) and Tay-Sachs disease, and hint on chromosomal aberrations: Del22q11.2 syndrome.
Epigenetic and posttranscriptional mechanisms of gene expression control: parental imprinting, Prader-Willi and Angelman syndromes. Sequence expansion diseases: fragile X syndrome, Huntington's chorea. Molecular investigation techniques. Hereditary neoplastic syndromes. "Gatekeeper" and "Caretaker" genes. Alterations of "gatekeeper" genes. Retinoblastoma: Knudson paradigm and subsequent reinterpretations. Role of the Rb protein. Hereditary polyposis colon cancer: role of APC protein. Gastric cancer and role of E-cadherin in epithelial-mesenchymal transition. Loss of heterozygosity (LOH). The von Hippel Lindau and mechanisms of hypoxia detection. Alterations in "caretaker" genes. The role of ATM and p53 genes. Xeroderma pigmentosum, ataxia telangectasia, hereditary forms of breast cancer, Li-Fraumeni, hereditary nonpolyposis colon cancer. Alterations in the stability of microsatellite sequences. Neoplastic syndromes from oncogene mutations: multiple endocrine neoplasms (MEN).
ONCOLOGY
Neoplasms: definitions and classifications. Basic oncology and medical oncology. Epidemiology of human cancers. Benign and malignant tumors. Cancer as a gene disease. Primary, secondary, and tertiary prevention of cancers.
Pathogenesis of tumors: oncogenes and oncosuppressor genes.
Genetic predisposition. Causes of cancer: biological and molecular mechanisms of physical, chemical and carcinogenesis by biological agents. The cancer phenotype: growth, differentiation, cell death, genomic instability. Morphological and metabolic characteristics of tumors and 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. Fundamentals and molecular and biological mechanisms of radiation, pharmacological, biological, immunological and gene therapies of tumors.

Readings/Bibliography

Pdf files of lectures
Recommended
V. Kumar, A.K. Abbas, J.C. Aster. “Robbins & Cotran Pathologic Basis of Disease”, 10th edition, Elsevier
Consultation
R.A. Weinberg “The Biology of Cancer”, 2nd Edition. Garland Science
P.L. Lollini “Cellular and molecular oncology” Elsevier
R.Rubin; D.S. Strayer; E. Rubin “Rubin's Pathology: Clinicopathologic Foundations of Medicine”, 6th ed. Lippincott Williams & Wilkins

Teaching methods

Molecular Pathology courses consist of 5 CFUs - 40 hours of lectures supported by power point slides and videos.

Assessment methods

The end-of-course written exam aims to assess the student's achievement of the teaching objectives and thus knowledge of the main concepts of genetic pathology and molecular oncology. The purpose of the test is to verify the student's ability to apply his or her notional background and to make the necessary logical-deductive connections.

The exam in written form and consists of 12 multiple choice questions (8 from Oncology and 4 from Genetic Pathology) and two open questions (1 from Oncology and 1 from Genetic Pathology) to be answered in 90 minutes. The exam is conducted by computer in the computer room.

The final grade is calculated as an arithmetic mean. Multiple choice questions are each worth 1 point, open-ended questions are each worth 10 points. If a passing grade (6/10) is not achieved in either of the open-ended questions, the assignment will be deemed insufficient.

Meaning of final grade:

Insufficient: deficient preparation. Serious and repeated conceptual errors.

18-19: knowledge of basic concepts without serious deficiencies. Exposition of concepts and language overall acceptable.

20-24: knowledge of basic concepts without gaps. Ability to analyze and connect in partial independence. Exposition of concepts and language fair.

25-29: good or very good level of preparation or even very good preparation but with inaccuracies in exposition that compromise the achievement of the full grade. Ability to analyze and link independently. Exposition of concepts in the right sequence and mastery of language.

30-30L: full, well-established preparation without inaccuracies on the topics covered in the course. Ability to frame the topic readily. Ability to analyze and link independently. Concepts in the right sequence and full command of specific language.

Teaching tools

Lecture materials used in class are made available to the student in electronic format on the Virtual Learning website [https://virtuale.unibo.it/].

You must register for the course with your institutional credentials.

Office hours

See the website of Giorgia Gri