Approved list of cancers and their eligibility criteria
The information on this page is taken directly from the “Cancer Eligibility Criteria Version 3.0” document. The aim of this page is to provide an up-to-date list of eligibility criteria for cancer types approved for recruitment.Downloads
- “Cancer Eligibility Criteria Version 3”
- “Annex B of the ‘NHS Terms and Conditions For The Provision of Services. Schedule 5 – Service Specification“
Where it is possible to take sufficient material or an additional sample, this can be submitted through existing NHS GMC pathways and processes for inclusion in the 100,000 Genomes Project.
- All participants must receive all usual clinical care.
- Tumour samples, apart from in allowed circumstances should be obtained as fresh or fresh frozen and not FFPE and pathways of care to facilitate this collection should be established.
In a limited number of allowed circumstances optimised FFPE (see sample handling guidance) will be accepted (note the genomic interpretation will be lower quality).
- Access to appropriate high quality DNA from both tumour and germline samples enabling Whole Genome Sequencing is required.
- Samples must have been processed according to the requirements set out in Annexes F and H, and any other standard operating procedures issued during the Term.
- Potential participants not wanting to consent for the study or participate in all aspects of the Project should be excluded. The patient may opt out of receipt of secondary findings not relevant to their cancer diagnosis.
- Recruitment after negative results from another research project – a patient who has had whole genome sequencing as part of another project should not be recruited to the 100,000 Genomes Project (unless otherwise agreed) as this will be unlikely to provide additional information.
- There is a requirement to provide Essential Sample Data and Core Data, therefore potential participants seen from another centre for specialist care, or where only Samples are received, cannot be recruited unless sufficient data will be obtainable from local centres.
- All potential participants must be residents of England, Scotland, Northern Ireland or Wales and be under the care of and be followed up by the NHS in England. Those in England and Wales must have an NHS number and those resident in Scotland or Northern Ireland the local equivalent.
- Patients must have a diagnosis from a WHO/IARC cancer classification
- Ability to collect the specified dataset within agreed timescales.
- Provision of informed consent in accordance with the Services Specification, Annex N – consent and patient recruitment and the Genomics England Protocol.
- Previously treated patients: with the exception of haematological malignancies (see below), patients are now eligible who:
- present with a recurrence of a previously treated tumour (with chemotherapy, hormone therapy and/or radiotherapy). This may be a local or metastatic recurrence.
- have undergone chemotherapy, hormone therapy and/or radiotherapy for their cancer, but fail to respond to this treatment and progress.
- have received neoadjuvant therapy (treatment before intended surgical resection) for their tumour.
- have undergone chemotherapy, hormone therapy and or radiotherapy for a previous tumour.
Collection of pre-treated tumour samples (e.g. from biopsy) and subsequent treated tumour samples in a time course series will be of particular value.
- Stored samples can be used providing that all of the following conditions apply:
1. Samples are Fresh Frozen (not FFPE);
2. Samples were taken after 1 January 2015;
3. Patients must have the potential to benefit from inclusion in the project;
4. Where the stored sample numbers do not exceed 10% of contracted volumes; and
5. Where all other aspects of the contractual requirements can be met including:
- Consent for inclusion specifically in the 100,000 Genomes Project;
- The specified dataset can be collected;
- Samples have been processed in accordance with the applicable Annexes and sample handling guidance and have passed the relevant QC requirements.
Where collections of DNA or samples exist and consist of more than 20 individuals or were obtained before 1 January 2015 but meet other criteria outlined, permission on a case by case basis can be given by Genomics England and NHS England for inclusion in the main programme, subject to NHS GMCs completing a proforma – please see web forms on this page.
Ineligible cancer types (plans are being developed to introduce many of these during the lifetime of the Project):
- Cervical, vaginal and vulval carcinomas
- Endocrine malignancies
- Squamous and basal skin carcinoma
- Low grade haematological malignancies (see below)
- Malignancies from placenta, heart, and male genital tract other than prostate and testis
- Benign tumours
- Carcinoma in situ (except bladder) and borderline ovarian tumours.
- Non availability of matched tumour and germline DNA samples.
- DNA of insufficient quantity or quality obtainable for whole genome sequencing
Except where explicitly included in the section below, the following blood cancer patients are excluded:
- Patients who have previously received treatment
- Stage A CLL
- CML and MPDs showing standard or good response to treatment
- FFPE samples from lymphomas
Where a patient is found to be ineligible on the basis of these criteria after initial recruitment, the patient must be informed that they can no longer be included in the project.
Currently approved cancer conditions
- Unless otherwise specifically excluded, all samples from invasive malignancies are eligible.
- Samples may be from the primary lesion, or from a metastasis.
- Samples collected at re-occurrence will only be considered for whole genome sequencing if there is a primary sample available: either stored or previously submitted.
- Recurrent tumours without a primary sample may be submitted where advised in writing, and will be considered if:
- The time scale from primary tumour to the recurrent tumour is such that a strong clinical case could be put that this is in fact a second primary.
- There was no opportunity to store frozen tissue from the primary when it was resected.
- Multiple samples can now be accepted from a single patient. These can be from synchronous tumours; metastatic and primary samples; samples from different locations within a tumour or samples taken at different time points. Detailed guidance can be accessed here.
- Small tumour size is not a contraindication to recruitment and guidance on techniques for sampling small tumours is also available here.
Approved cancer conditions to date are invasive forms of the following cancer types. Any rare malignancy within these organs are eligible unless specifically excluded.View list of cancer types
- Bladder cancer
- Brain Tumours (adult)
- Breast cancer
- Colorectal cancer
- Upper gastrointestinal (GI) tumours
- Gynaecological cancers encompassing several anatomical descriptions/sites including fallopian, endometrial, ovarian and primary peritoneal
- Haematological Malignancies (see below)
- Head and Neck cancers
- Lung cancer
- Neuroendocrine tumours
- Prostate cancer
- Renal cancer
- Sarcoma (including paediatric and adult sarcoma)
- Testicular cancer
- Childhood Solid Tumours
- Cancers of Unknown Primary
The following blood cancer types are eligible:View list of haematological malignancies
- Newly diagnosed, untreated acute myeloid leukaemia (AML), including acute promyelocytic leukaemia (APML), patients with any blast percentage (by definition >= 20% blasts in bone marrow). This category includes paediatric patients (i.e. <18 years) with newly diagnosed, untreated AML. Newly diagnosed untreated AML including APML and high-risk MDS patients who are also being recruited to the AML 18/19 trial can be recruited in parallel into the 100,000 Genome Programme, but clinical trial sample collections take priority. Where patients have had a sample submitted, subsequent relapse / recurrent AML samples are eligible.
- Newly diagnosed AML and high-risk MDS outside of clinical trials (n=1,000)
- Paediatric AML outside of or within the MyChild trial. For sample requirements, please refer to the adult AML guidance.
- Children with ALL who have not obtained MRD levels of less than 5% at day 28 bone marrow examination. Patients recruited into clinical trials can be co-recruited, but only if the quality of the clinical trial samples is not compromised.
- Children and young adults diagnosed with ALL (defined as <25 years old at the time of diagnosis) who have not obtained MRD levels of less than 5% at day 28 bone marrow examination. Patients recruited into clinical trials can be recruited in parallel but only if the quality of the clinical trial samples is not compromised. Both B and T cell subtypes are eligible providing a minimal residual disease (MRD) marker which can be monitored has been identified and there is confirmation that this is detectable at >-5% in the day 28 bone marrow examination.
- All patients with CLL who subsequently undergo a high grade transformation to a nonHodgkin’s lymphoma are eligible to have their high grade NHL sequenced.
- Chronic lymphocytic leukaemia (CLL) patients who are also being recruited to the FLAIR trial
- Any untreated patient with CLL who fulfils the following criteria:
- Are untreated but now require imminent treatment (NB must be about to start treatment, not pursuing a watch and wait approach). Have severe enough disease that they would be eligible for enrolment in the FLAIR trial.
- Are fit enough for chemoimmunotherapy including a purine analogue (i.e. fludarabine or bendamustine).
- Have not been enrolled in the FLAIR trial for logistical, medical (e.g. poor renal function), genomic (i.e. TP53 abnormality in >20% cells) or patient choice reasons
Patients with CML who either:
- Are extreme responders based on RQ-PCR values after 3 months of tyrosine kinase inhibitor treatment (<1% or >10% BCR-ABL transcripts using International Standards).
- Present in accelerated or blast phase (i.e. >10% blasts in bone marrow or peripheral blood as determined by morphology);
- Have an additional cytogenetic abnormality in addition to t(9;22) at diagnosis (NB this criteria excludes patients with a variant transcript)
- Progress from chronic phase to accelerated or blast phase
Only pre-treatment samples should be submitted and the patient has to be consented retrospectively (n=80).
- Newly diagnosed aggressive B and T-cell Non-Hodgkin’s Lymphomas including but not limited to Diffuse Large B Cell Lymphoma (DLBCL), Burkitt Lymphoma, Primary Mediastinal B-cell lymphoma (PMBL), T Cell Lymphomas, Lymphoblastic Lymphoma and High Grade lymphoma NOS (i.e. new WHO grey zone category), but only if sufficient fresh biopsy/resection material can be obtained (n=500).
- In the interest of equitable access, all patients with a High Grade Lymphoma (arising from a lower grade lymphoid malignancy including CLL) are eligible for recruitment. Please contact the service desk for clarification of the eligibility of other specific subtypes.
- Patients with CML who are extreme responders based on RQ-PCR values after 3 months of treatment (<1% or >10% BCR-ABL transcripts using International Standards) and/or have experienced disease progression. Only pre-treatment samples should be submitted and the patient has to be consented retrospectively (n=80)
- Myeloma patients who are also being recruited to MUK 9 trial will be eligible when the trial opens for recruitment and after demonstration that collection of sufficient cell numbers for DNA extraction alongside the clinical trial sample requirements is feasible.
Further guidance can be found on the Sample Handling page (Haematological Malignancies document).
- Untreated, newly diagnosed Myeloma where sorted/enriched CD138+ cells derived from the bone marrow with a purity of >=80% are available for DNA extraction. Those samples where the post-sort/ enrichment CD138+ cell purity is >40% but <80% may be considered for sequencing providing:
- The patient fulfils all the other eligibility criteria
- The cells were column sorted
- A second column sort would not be feasible with an explanation as to why.
- Other scenarios will be considered on a case-by-case basis through requests to the service desk
- Newly diagnosed untreated Myelodysplastic Syndrome (MDS) patients with 10-19% blasts in bone marrow.#
Documented evidence of purity of cell selection has to be provided for each patient (for example, a digital image of an MGG stained slide of sorted cells and a manual differential count of this slide or by Flow cytometry) (n=500).
- Patients entered into clinical trials (CARDAMON, MUK9, others) can also be co-recruited into the 100,000 Genomes Project provided that sufficient cell numbers for DNA extraction are available and the quality of the clinical trial sample is not compromised.
Documented evidence of purity of cell selection has to be provided for each patient (for example, a digital image of an MGG stained slide of sorted cells and a manual differential count of this slide or by Flowcytometry) (n=500).
- Patients with an unclassified HM malignancy and unknown diagnosis (for example, MDS/MPD overlap syndromes; triple negative MPD or uncertain diagnoses where clinical presentation does not fit with pathological diagnosis) (n=500).
- Recruitment is still possible if a patient has received initial doses of steroids prior to collection of the tumour sample, but not if systemic anti-cancer therapy has been administered.
- Patients entered into clinical trials can also be co-recruited into the 100,000 Genome Programme provided that sufficient cell numbers for DNA extraction are available and the quality of the clinical trial sample is not compromised.