Myeloid Gene Panels (Pilot - Not Accredited)

Programme objective: To assess a laboratory’s ability to accurately determine the genetic status of myeloid neoplasms using high throughput sequencing methods.

Clinical/scientific background: Myeloid neoplasms represent a heterogenous group of disorders with many overlapping biological and genetic features. Genomic data is increasingly important to distinguish and classify these disorders. Its application is becoming deeply embedded in all aspects of patient management; providing valuable diagnostic, treatment and prognostic information. Further, patient genomic data can facilitate accessibility to clinical trials and offer markers for measurable residual disease testing post treatment. The increasing importance of genomic data has been acknowledged in both the recent WHO (5^th edition) and ICC guidelines:

Khoury, J.D., Solary, E., Abla, O. et al. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms. Leukemia 36, 1703–1719 (2022).

Arber, D.A. et al. International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data. Blood 140, 1200-1228 (2022).

High throughput sequencing methods have evolved to allow the development of large myeloid gene panels necessitating external quality assessment (EQA)/proficiency testing (PT) in this area. Initially this programme was launched as an acute myeloid leukaemia specific programme, extending to include myelodysplastic syndromes in 2019. However, from 2022/23 the programme expanded further to encompass a broader range of myeloid neoplasms (e.g. myeloproliferative neoplasms, juvenile myelomonocytic leukaemia, chronic neutrophilic leukaemia and systemic mastocytosis - subject to sample material availability) to reflect the increased application of NGS gene panel testing.

Suitability: Any high throughput sequencing panel-based approach for the evaluation of genetic status in myeloid neoplasms. However, please note, the programme may distribute extracted DNA or patient material which was processed >48 hours following collection, which would not be suitable for a RNA based assay. Please contact admin@ukneqasli.co.uk if you use RNA as the primary input material for your assay.

Sample type/distribution: One lyophilised cell based (cell line or patient material) or DNA in tris-EDTA sample is issued twice per annum. A clinical scenario is included with trial sample to guide panel/bioinformatic analysis. The trial schedule can be found here: https://www.ukneqasli.co.uk/eqa-pt-programmes/trial-schedules/

Instructions for storage, reconstitution and use of the samples are included with the distribution.

Participants will be expected to test the sample with their in-house panel and report any clinically significant intragenic and/or regulatory element changes such as a nucleotide substitution, small insertion, small deletion or small duplication event(s). Participants will not be requested to report larger changes affecting genome architecture or copy number changes (>50 kb).

Trial duration: Typically, trials for this programme are live/open for a minimum of 6 weeks. Please note that trials issued/closing in August or December are extended by 1 week.

Subcontracted areas: Pre-issue and post-closure testing of samples for this programme are currently subcontracted, although the final decision about sample suitability lies with the EQA provider; no other activities in relation to this EQA programme are subcontracted. 

Updates to the programme for current or upcoming year: One trial distribution per annum will focus on summarising the variants detected by participants (including methodological aspects and nomenclature) and the other will additionally provide educational elements related to variant interpretation/classification. It may be prudent for UK NEQAS LI to issue an interim/preliminary report, followed by an educational addendum to form the finalised trial report. 

We acknowledge best practice in somatic variant interpretation is an evolving topic. However, for further details regarding the classification terminology currently utilised by this programme please refer to Li M.M. et al. Standards and Guidelines for the interpretation and reporting of sequence variants in cancer. J Mol Diagn. 19, 4-23 (2017). 

To register for this programme, please click here.