1Department of Pathology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea
2Department of Pathology, Busan Paik Hospital, Inje University College of Medicine, Busan, Korea
3Department of Hospital Pathology, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
4Department of Pathology, St. Vincent’s Hospital, College of Medicine, The Catholic University of Korea, Suwon, Korea
5Department of Pathology, Konkuk University Medical Center, Konkuk University School of Medicine, Seoul, Korea
6Department of Pathology, CHA Bundang Medical Center, CHA University, Seongnam, Korea
7Department of Pathology, Chung-Ang University Hospital, Seoul, Korea
8Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
9Cancer Research Institute, College of Medicine, The Catholic University of Korea, Seoul, Korea
© 2023The Korean Society of Pathologists/The Korean Society for Cytopathology
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Ethics Statement
Not applicable.
Availability of Data and Material
The datasets used and/or analysed during the current study are available from the corresponding author on reasonable request.
Code Availability
Not applicable.
Author contributions
Conceptualization: AL. Data curation: JK (Jiwon Koh), HYP, UC, JKW, AL. Formal analysis: JK (Jiwon Koh). Funding acquisition: AL. Investigation: JK (Jiwon Koh), HYP, JKW, AL. Methodology: JK (Jiwon Koh), JKW, AL. Resources: JK (Jiwon Koh), HYP, JMB, JK (Jun Kang), UC, SEL, HK, MEH, JKW, YLC, WSK, AL. Writing—original draft: JK (Jiwon Koh). Writing—review & editing: all authors. Approval of final manuscript: all authors.
Conflicts of Interest
The authors declare that they have no potential conflicts of interest.
Funding Statement
This research was supported by The Korean Society of Pathologists Grant No. KSPG2021-02.
MMR, mismatch repair; MSI, microsatellite instability; HRD, Homologous recombination deficiency; TMB, tumor mutation burden; NGS, next-generation sequencing; PCR, polymerase chain reaction; FISH, fluorescent in situ hybridization; CISH, chromogenic in situ hybridization; SISH, silver in situ hybridization.
1 | Gene and genome | |
1-1 | Able to explain the composition and structure of DNA and RNA | |
1-2 | Able to explain the definition of genome, exome, proteome, transcriptome, and metabolome | |
1-3 | Able to explain the chromosome, histone, and chromatin | |
1-4 | Able to explain the replication and repair process of DNA | |
1-5 | Able to explain the mechanism and regulator of transcription | |
1-6 | Able to explain the mechanism of translation and definition of codons | |
1-7 | Able to explain the definition of promoter, enhancer, cis- and trans-regulation | |
1-8 | Able to explain the types and roles of epigenetic gene regulation | |
1-9 | Able to explain the definition of genetic polymorphism | |
1-10 | Able to explain the definition of point mutation, insertion, deletion, and structural variation including translocation | |
1-11 | Able to explain the definition of missense, synonymous, nonsense, null, and frameshift mutations | |
1-12 | Able to explain the association between mutations and genomic instability and RNA splicing | |
2 | Molecular oncology (introduction) | |
2-1 | Able to explain the definition of oncogene and tumor suppressor gene | |
2-2 | Able to explain the hallmark of cancer | |
2-3 | Able to explain the major cellular signaling pathways related to oncogenesis and cancer progression | |
2-4 | Able to explain the mechanism through which proto-oncogenes are activated and transformed into oncogenes | |
2-5 | Able to explain the mechanisms of familial and hereditary tumor development | |
2-6 | Able to explain the definition of chromosomal instability and loss of heterozygosity | |
2-7 | Able to explain the definition and clinical significance of mismatch repair deficiency, microsatellite instability, homologous recombination deficiency, tumor mutational burden | |
2-8 | Able to explain the definition and clinical significance of methylation in cancer | |
2-9 | Able to list the indications of molecular pathology testings in cancer (i.e., screening, diagnostic, prognostic, predictive, treatment monitoring) | |
2-10 | Able to explain the definitions of companion diagnostics and complementary diagnostics | |
2-11 | Able to list the predictive markers of major cancer types | |
3 | Techniques of molecular pathology | |
3-1 | Able to explain the DNA/RNA extraction process according to the sample types | |
3-2 | Able to explain the ways of assessing quality and quantity of DNA/RNA and list the pros and cons of each method | |
3-3 | Able to list the ways of assessing genetic mutations and list the pros and cons of each method | |
3-4 | Able to explain why the minimum tumor requirement differs between assays | |
3-5 | Able to explain the factors influencing the quality of tissue samples and nucleic acid | |
3-6 | Able to properly name the genetic mutations according to the Human Genome Variation Society (HGVS) nomenclature | |
3-7 | Able to explain the assessment process and criteria of the clinical performance evaluation | |
3-8 | Able to explain the assessment process and criteria of the analytical performance evaluation | |
4 | Sanger sequencing | |
4-1 | Able to explain the principle of Sanger sequencing and interpretation | |
4-2 | Able to interpretate the electropherogram of each type of mutation | |
4-3 | Able to identify the causes of false positive or false negative results | |
4-4 | Able to interpretate the mutation analysis results and generate proper clinical reports | |
4-5 | Able to list the specific disease-related genetic mutations | |
5 | Next-generation sequencing (NGS) | |
5-1 | Able to explain the differences between NGS and Sanger sequencing | |
5-2 | Able to explain the differences between hybrid capture and amplicon-based target enrichment | |
5-3 | Able to explain the definitions of whole genome, whole exome, targeted gene panel, and transcriptome sequencing and pros/cons of each method | |
5-4 | Able to explain each step of library preparation for NGS | |
5-5 | Able to explain each step of bioinformatic analysis for NGS data | |
5-6 | Able to explain the major quality metrics related to the qualities of library and sequencing data | |
5-7 | Able to list major reference database for use in variant interpretation and definition of tier-based classification system | |
6 | Polymerase chain reaction (PCR) | |
6-1 | Able to explain the principle and indication of PCR | |
6-2 | Able to list the technical considerations of performing PCR | |
6-3 | Able to interpretate the PCR analysis results and generate proper clinical reports | |
6-4 | Able to explain the principle and indication of real-time PCR (RT-PCR) | |
6-5 | Able to list the technical considerations of performing RT-PCR | |
6-6 | Able to interpretate the RT-PCR analysis results and generate proper clinical reports | |
7 | In situ hybridization (ISH) | |
7-1 | Able to explain the principle and process of fluorescent in situ hybridization (FISH), chromogenic in situ hybridization (CISH), and silver in situ hybridization (SISH) | |
7-2 | Able to list the indications of FISH, CISH, and SISH | |
7-3 | Able to explain the types of FISH probes | |
7-4 | Able to explain the clinical significance of FISH results | |
7-5 | Able to interpretate the results of FISH, CISH, SISH and generate proper clinical reports | |
8 | Microsatellite instability (MSI) test | |
8-1 | Able to explain the definition of microsatellite | |
8-2 | Able to explain the principles and techniques of MSI tests | |
8-3 | Able to explain the clinicopathological significance of MSI | |
9 | Methylation analysis | |
9-1 | Able to explain the principles and techniques of methylation analysis | |
9-2 | Able to explain the definition of CpG island methylator phenotype | |
9-3 | Able to list the technical considerations of performing methylation analysis | |
9-4 | Able to interpretate the results of methylation analysis and generate proper clinical reports | |
10 | Gene rearrangement test | |
10-1 | Able to explain the definition of gene rearrangement and utilize the results in the diagnosis and treatment planning | |
10-2 | Able to list the methods of gene rearrangement tests and explain the pros/cons of each method | |
10-3 | Able to interpretate the results of gene rearrangement analysis and generate proper clinical reports | |
11 | Human papillomavirus genotyping by DNA microarray | |
11-1 | Able to explain the principle of DNA microarray and utilize the results in the diagnosis and treatment planning | |
11-2 | Able to explain the process of DNA microarray test | |
11-3 | Able to list the methods of DNA microarray tests and explain the pros/cons of each method | |
11-4 | Able to interpretate the results of DNA microarray analysis and generate proper clinical reports | |
12 | Chromosome analysis | |
12-1 | Able to explain the principle of chromosome analysis | |
12-2 | Able to explain the result and clinical significance of chromosome analysis | |
13 | Molecular pathology laboratory management | |
13-1 | Able to list precautions for preventing cross-contamination during each step of molecular pathology testings | |
13-2 | Able to list the reference database for genetic testings | |
13-3 | Able to list the credential criteria and quality metrics for laboratory certificate | |
13-4 | Able to guide the clinicians for proper molecular pathology testings | |
13-5 | Able to explain the definitions of research use only, investigational use only, in vitro diagnostics, laboratory developed test, and analyte specific reagents |
Day 1 | ||
1 | Introduction to molecular pathology | |
2 | DNA/RNA | |
3 | Gene expression | |
4 | Epigenetics | |
5 | Molecular oncology (I) | |
6 | Molecular oncology (II) | |
7 | Hallmark of cancer | |
Day 2 | ||
1 | Molecular technology (1) – Principle, application, and practice | |
2 | Molecular technology (2) – Principle, application, and practice | |
3 | Molecular technology (3) – Principle, application, and practice | |
4 | NGS system: Technology & wet-lab | |
5 | NGS-bioinformatics and knowledge base | |
6 | NGS interpretation and reporting: in the view of pathologists | |
7 | Pathologists role in immuno-oncology | |
8 | Companion diagnosis/liquid biopsy | |
Day 3 | ||
1 | Molecular diagnostics & personalized medicine in breast | |
2 | Molecular diagnostics & personalized medicine in female genital tract | |
3 | Molecular diagnostics & personalized medicine in gastrointestinal tract | |
4 | Molecular diagnostics & personalized medicine in primary brain tumor | |
5 | Molecular diagnostics & personalized medicine in endocrine organ | |
6 | Molecular diagnostics & personalized medicine in urogenital tract | |
7 | Molecular diagnostics & personalized medicine in lung and mediastinum | |
8 | Molecular diagnostics & personalized medicine in skin | |
9 | Molecular diagnostics & personalized medicine in hematopathology | |
10 | Molecular diagnostics & personalized medicine in bone and soft tissue |
MMR, mismatch repair; MSI, microsatellite instability; HRD, Homologous recombination deficiency; TMB, tumor mutation burden; NGS, next-generation sequencing; PCR, polymerase chain reaction; FISH, fluorescent in situ hybridization; CISH, chromogenic in situ hybridization; SISH, silver in situ hybridization.