MOLECULAR DIAGNOSTICS IN PATHOLOGICAL ANATOMY
It is necessary to have acquired basic knowledge of Biochemistry and Genetics
oral examination in which the following aspects will be evaluated
1) the ability to describe the basic principles of the techniques discussed in class (SCORE 0.40)
2) Discuss, using an appropriate technical language, some examples of applications of these techniques (SCORE 0.30)
3) Interpret examples of results obtained with the methods described (SCORE 0.30)
At the end of the course the student will have to know the main technologies used in the field of molecular pathology, being able to describe the principles and protocols of the methods described and the most common applications in the diagnosis and treatment of solid and hematological tumors. The student will have to be able to recognize and comment on images of electropherograms, RT-PCR or dPCR curves, MS-MLPA or MLPA report
The class aims to provide the knowledge of the main molecular diagnostic tests currently used in anatomic pathology lab for the prevention, diagnosis and treatment of solid and hematological tumors.
Important aims of the course include to convey the rapid evolution of the technologies routinely used, the updating needs and the implementation of new tests, the technical strategies to be adopted in the validation/control of the new methods
Introduction to molecular diagnostics in AP
Extraction of nucleic acids from fixed and paraffin-embedded tissues
Analysis of gene translocations by PCR
Microsatellite instability Test
CNV analysis using MLPA
Methods for studying methylation of gene promoters
Tests to identify SNVs and using RT-PCR, dPCR, NGS
NGS for the detection of fusion genes
1) the slides used for the lessons are available on e-learning platform
2) examples of technical protocols will be discussed in class to verify the level of learning and the operational aspects of the method
3) For consultation: “Principles of Molecular Diagnostics and Personalized Cancer Medicine” Autori: D. Tan e HT Lynch. Ed: Wolters Kluwer. ISBN/ISSN: 9781451131970