1. Haematological Malignancies Update Cancer V&R work shop 04/06/18 Dr Shirley Henderson

2. Haematological malignancies – creating new clinical pathways for WGS
Although there is a long track record of the genetic analysis of both liquid and solid haematological tumours to aid diagnosis and therapy choice, significant clinical pathway adaptions are required to provide appropriate material for WGS.
For solid haematological tumours (e.g lymphoma) the challenges are similar to other solid tumours i.e requirement for fresh frozen samples to obtain optimal WGS.
For liquid haematological cancers where it is usually possible to obtain good quality (unfixed) tumour DNA from blood or bone marrow, the challenge lies with the collection of suitable samples for germline DNA.

3. Alternative germlines for Haematological Malignancies
Cultured Fibroblasts,
Post treatment blood
(taken once malignant cells have been cleared).
Saliva
Various options are being explored, all alternative germlines have pros and cons (e.g delays and/or tumour contamination) – work being carried out to ascertain which will give best results AND firt into clinical pathways.
Reference Germ Line
Sorted T cells
Uncultured Skin Biopsy

4. Acute Myeloid Leukaemia
Updated WHO classification of myeloid neoplasms and acute leukaemia (2016) * now 23 sub types of AML and related neoplasms
Different sub types can require different therapy and will have different prognoses
Multiple molecular tests (for small & structural variants) may be needed to properly classify into appropriate sub groups
WGS has the potential to identify all types of molecular variants
Potential benefit of WGS in AML *

5. Haematological Malignancies Time Line (main programme)

6. Haematological Malignancies Recruitment (GMC self reported samples in process & and passed QC) as of 18nd May 2018

7. Haematological Malignancies – Genomics England Data
GMC
# Participants registered
# Samples sent
# Samples at UKB
# Samples at Illumina
# Sequence returned
East of England 26
South London 19 18 6 4
Greater Manchester 34 12
North East and Cumbria 14
North Thames
100 46
Oxford 47 81 54
Wessex 23 20 10
West Midlands 2
West of England
Total
323
203 82 38

8. Next Haem Onc WEBEX July 3rd 2-3:30pm