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Mutation Testing: Why, When, Which and How?

Mutation Testing: Why, When, Which and How?. Why?. Prognostic BRAF? Predictive Adjuvant Ulceration? Gene signature? Advanced disease BRAF RAS? CKIT?. When. Advanced disease Drive therapeutic decision Clonal evolution Delays and/or failed biopsy Primary resection Never needed

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Mutation Testing: Why, When, Which and How?

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  1. Mutation Testing: Why, When, Which and How? Melanoma Focus Meeting 2012

  2. Why? • Prognostic • BRAF? • Predictive • Adjuvant • Ulceration? • Gene signature? • Advanced disease • BRAF • RAS? • CKIT? Melanoma Focus Meeting 2012

  3. When • Advanced disease • Drive therapeutic decision • Clonal evolution • Delays and/or failed biopsy • Primary resection • Never needed • ‘Waste’ sample, better technology • Generate anxiety Melanoma Focus Meeting 2012

  4. Molecular testing in diagnostic samples • Type of specimen: any • Formalin fixed-paraffin embedded: • Biopsy • Surgical • Cytology: ++ • Needle washings (avoiding smears) • Type of test: • DNA based: mutation testing: BRAF, NRAS, KIT, etc,.. • RNA based: translocation, level of expression • Gene amplification: in situ hybridization: FISH, SIH, CISH Melanoma Focus Meeting 2012

  5. Which alterations? • Currently, routine practice: BRAF and/or KIT mutation testing • CR UK stratified medicine: BRAF, KIT, NRAS, PIK3CA • Near future: whatever is clinically relevant Melanoma Focus Meeting 2012

  6. Multiplex testing • Next generation sequencing • Chip based • Other kits Aiming to 5 working days turn around time Less than £300 Melanoma Focus Meeting 2012

  7. Pathway • Molecular testing • As soon as possible (molecular tests can be diagnostic, prognostic and predictive) • Ideally, at the time of diagnosis, part of histology assessment • Can be performed retrospectively: material is banked • Paraffin blocks stored for 30 years • Extracted DNA and RNA also banked Melanoma Focus Meeting 2012

  8. Melanoma Quality Standards 2012 • People with ≥Stage IIIB melanoma, should be offered genotyping of their melanoma to allow planning of systemic treatment by the multidisciplinary team Melanoma Focus Meeting 2012

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