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Dr. Suprava Biswal
PG – 1,
Dept of Surgery,
IMS SUM
Molecular Biology In Surgical
Diagnosis and Therapy
Specific Learning Objectives
21st March 2023 Dr. Suprava Biswal 2
Need of Molecular Diagnostics in Surgery
Specimen used for Molecular Diagnostics
Diagnostic modalities
Management of Surgical cases by Molecular methods
What is Molecular Biology
21st March 2023 Dr. Suprava Biswal 3
Interest to Surgeons
21st March 2023 Dr. Suprava Biswal 4
 Diagnosis
 For conclusive clinical diagnosis
 Accidental and incidental findings
 Differentiating benign from malignant
 Classification of cancer
 Cancer screening programs
 Staging of detected malignancies
 Management of patients
 Selection of treatment modality
 Assessing treatment response
 Prognostic evaluation
Tissue Specimens
21st March 2023 Dr. Suprava Biswal 5
 Histology
 Formalin Fixed
 Biopsy
 Resection
 Fresh Tissue
 Frozen Section
 Research – Tissue banking
 Cytology
 Cervical
 Scrapes & washing
 FNAC
 Liquid Biopsy
Tissue Specimen (contd.)
21st March 2023 Dr. Suprava Biswal 6
 Specimens are either by biopsy or resection
 USG or CT – guided biopsies aid in reducing errors
 Collected sample is used for molecular analysis
 For routine histology – immediately fixed with formalin by the surgical team
 For frozen section – done intraoperatively
 Cytology specimens – collected directly (urine, sputum) or through washing (Bronchial lavage) or FNAC
Tissue Preparation
21st March 2023 Dr. Suprava Biswal 7
Diagnostic modalities
21st March 2023 Dr. Suprava Biswal 8
Diagnostic modalities
21st March 2023 Dr. Suprava Biswal 9
 Immunohistochemistry (IHC)
 Detects specific dye-labelled antigen
 Quantifiable
 Safe, quick and inexpensive
 Both fixed and frozen tissue can be used
Diagnostic modalities (contd.)
21st March 2023 Dr. Suprava Biswal 10
Diagnostic modalities (contd.)
21st March 2023 Dr. Suprava Biswal 11
 Polymerase Chain Reaction
 Amplifies DNA to check for genetic
abnormalities
 Mutational Analysis testing for
clonality,
 detection of fusion transcripts
resulting from cytogenetic
changes,
 Detection of amplifications,
 and detection of gene
hypermethylation
Diagnostic modalities (contd.)
21st March 2023 Dr. Suprava Biswal 12
Genes Associated with specific Cancers
Diagnostic modalities (contd.)
21st March 2023 Dr. Suprava Biswal 13
 Fluorescent In-Situ Hybridization
 Easy to use and common technique for detection of genetic
abnormalities
 Fluorescent labelled oligonucleotide probe
 that targets a specific sequence of RNA or DNA
 allows visualization of the presence or absence and location of
a particular RNA or DNA sequence in situ in tissue section
 visualized by fluorescence microscopy
Diagnostic modalities (contd.)
21st March 2023 Dr. Suprava Biswal 14
HER2 pattern in FISH
EWSR1 pattern in FISH
Diagnostic modalities (contd.)
21st March 2023 Dr. Suprava Biswal 15
 Other sequencing techniques
 Next Generation Sequencing
(NGS)
 Detects genomic
abnormalities
 Associated with
carcinomatous changes
Management of Surgical cases by Molecular methods
21st March 2023 Dr. Suprava Biswal 16
 Management aimed in 2 parts
 Treatment by Precision Medicine
 Prognostic assessment
Management of Surgical cases by Molecular methods
21st March 2023 Dr. Suprava Biswal 17
 Cancer Precision Medicine
 development of individualized cancer care
plans,
 partly on the basis of molecular
abnormalities in a tumor
 Germline and somatic mutations may be
taken into consideration
Management of Surgical cases by Molecular methods (contd.)
21st March 2023 Dr. Suprava Biswal 18
Targeted therapeutics for GI Cancer Targeted therapeutics for Breast Cancer
Management of Surgical cases by Molecular methods (contd.)
21st March 2023 Dr. Suprava Biswal 19
 Cancer Prognosis
 determine the selection of therapy for
tumors may also have additional prognostic
value
Management of Surgical cases by Molecular methods (contd.)
21st March 2023 Dr. Suprava Biswal 20
Molecular Diagnostic and Therapeutic Profiling of Common Carcinomas
Thank You!

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MolDiag_Sx.pptx

  • 1. Dr. Suprava Biswal PG – 1, Dept of Surgery, IMS SUM Molecular Biology In Surgical Diagnosis and Therapy
  • 2. Specific Learning Objectives 21st March 2023 Dr. Suprava Biswal 2 Need of Molecular Diagnostics in Surgery Specimen used for Molecular Diagnostics Diagnostic modalities Management of Surgical cases by Molecular methods
  • 3. What is Molecular Biology 21st March 2023 Dr. Suprava Biswal 3
  • 4. Interest to Surgeons 21st March 2023 Dr. Suprava Biswal 4  Diagnosis  For conclusive clinical diagnosis  Accidental and incidental findings  Differentiating benign from malignant  Classification of cancer  Cancer screening programs  Staging of detected malignancies  Management of patients  Selection of treatment modality  Assessing treatment response  Prognostic evaluation
  • 5. Tissue Specimens 21st March 2023 Dr. Suprava Biswal 5  Histology  Formalin Fixed  Biopsy  Resection  Fresh Tissue  Frozen Section  Research – Tissue banking  Cytology  Cervical  Scrapes & washing  FNAC  Liquid Biopsy
  • 6. Tissue Specimen (contd.) 21st March 2023 Dr. Suprava Biswal 6  Specimens are either by biopsy or resection  USG or CT – guided biopsies aid in reducing errors  Collected sample is used for molecular analysis  For routine histology – immediately fixed with formalin by the surgical team  For frozen section – done intraoperatively  Cytology specimens – collected directly (urine, sputum) or through washing (Bronchial lavage) or FNAC
  • 7. Tissue Preparation 21st March 2023 Dr. Suprava Biswal 7
  • 8. Diagnostic modalities 21st March 2023 Dr. Suprava Biswal 8
  • 9. Diagnostic modalities 21st March 2023 Dr. Suprava Biswal 9  Immunohistochemistry (IHC)  Detects specific dye-labelled antigen  Quantifiable  Safe, quick and inexpensive  Both fixed and frozen tissue can be used
  • 10. Diagnostic modalities (contd.) 21st March 2023 Dr. Suprava Biswal 10
  • 11. Diagnostic modalities (contd.) 21st March 2023 Dr. Suprava Biswal 11  Polymerase Chain Reaction  Amplifies DNA to check for genetic abnormalities  Mutational Analysis testing for clonality,  detection of fusion transcripts resulting from cytogenetic changes,  Detection of amplifications,  and detection of gene hypermethylation
  • 12. Diagnostic modalities (contd.) 21st March 2023 Dr. Suprava Biswal 12 Genes Associated with specific Cancers
  • 13. Diagnostic modalities (contd.) 21st March 2023 Dr. Suprava Biswal 13  Fluorescent In-Situ Hybridization  Easy to use and common technique for detection of genetic abnormalities  Fluorescent labelled oligonucleotide probe  that targets a specific sequence of RNA or DNA  allows visualization of the presence or absence and location of a particular RNA or DNA sequence in situ in tissue section  visualized by fluorescence microscopy
  • 14. Diagnostic modalities (contd.) 21st March 2023 Dr. Suprava Biswal 14 HER2 pattern in FISH EWSR1 pattern in FISH
  • 15. Diagnostic modalities (contd.) 21st March 2023 Dr. Suprava Biswal 15  Other sequencing techniques  Next Generation Sequencing (NGS)  Detects genomic abnormalities  Associated with carcinomatous changes
  • 16. Management of Surgical cases by Molecular methods 21st March 2023 Dr. Suprava Biswal 16  Management aimed in 2 parts  Treatment by Precision Medicine  Prognostic assessment
  • 17. Management of Surgical cases by Molecular methods 21st March 2023 Dr. Suprava Biswal 17  Cancer Precision Medicine  development of individualized cancer care plans,  partly on the basis of molecular abnormalities in a tumor  Germline and somatic mutations may be taken into consideration
  • 18. Management of Surgical cases by Molecular methods (contd.) 21st March 2023 Dr. Suprava Biswal 18 Targeted therapeutics for GI Cancer Targeted therapeutics for Breast Cancer
  • 19. Management of Surgical cases by Molecular methods (contd.) 21st March 2023 Dr. Suprava Biswal 19  Cancer Prognosis  determine the selection of therapy for tumors may also have additional prognostic value
  • 20. Management of Surgical cases by Molecular methods (contd.) 21st March 2023 Dr. Suprava Biswal 20 Molecular Diagnostic and Therapeutic Profiling of Common Carcinomas