24 January 2019

The discovery of new subtypes of B-cell acute lymphoblastic leukaemia allows classification of over 90% of cases, researchers have reported.

This will allow improved accuracy in diagnosis and treatment, say the researchers, led by a team at St. Jude Children's Research Hospital, Memphis, Tennessee, USA.

Details of the discoveries are published in the journal Nature Genetics. The team used a technique called integrated genomic analysis on samples from nearly 2,000 children and adults.

This led to the identification of 23 subtypes of B-cell acute lymphoblastic leukaemia, eight of these were newly discovered.

The classification included two new subtypes defined by alterations in the PAX5 gene, and others involving rearrangements in BCL2, NUTM1, and HLF. Three new subtypes were defined by their similarity to existing subtypes, namely ETV6-RUNX1-like, KMT2A-like, and ZNF384-like. A final new subtype involved mutations in the IKZF1, which is already associated with high-risk disease.

These subtypes each have distinct genomic and clinical features and are linked to different prognoses.

Dr Charles Mullighan from St Jude, who led the study, says: "B-cell acute lymphoblastic leukaemia has remarkable molecular diversity, which we and others have used to refine classification and drive the development of precision medicines to improve treatment and outcomes.

"Part of precision medicine is an accurate molecular diagnosis, which this study provides to more patients."

Zhaohui Gu, co-first author of the study along with Michelle Churchman and Kathryn Roberts, added: "Through this study, two-thirds of the previous uncharacterised B-cell acute lymphoblastic leukaemia patients could be classified into different subtypes with distinct genetic alteration profiles and clinical features.

"That may substantially speed up the development of customised treatments for these patients. We also established a robust B-cell acute lymphoblastic leukaemia classification pipeline based mainly on RNA sequencing data that may be integrated into clinical diagnosis of acute lymphoblastic leukaemia."


Source: Gu, Z., Churchman, M.L., Roberts, K.G., Moore, I., Zhou, X., Nakitandwe, J., Hagiwara, K., Pelletier, S., Gingras, S., Berns, H., Payne-Turner, D., Hill, A., Iacobucci, I., Shi, L., Pounds, S., Cheng, C., Pei, D., Qu, C., Newman, S., Devidas, M., Dai, Y., Reshmi, S.C., Gastier-Foster, J., Raetz, E.A., Borowitz, M.J., Wood, B.L., Carroll, W.L., Zweidler-McKay, P.A., Rabin, K.R., Mattano, L.A., Maloney, K.W., Rambaldi, A., Spinelli, O., Radich, J.P., Minden, M.D., Rowe, J.M., Luger, S., Litzow, M.R., Tallman, M.S., Racevskis, J., Zhang, Y., Bhatia, R., Kohlschmidt, J., Mrózek, K., Bloomfield, C.D., Stock, W., Kornblau, S., Kantarjian, H.M., Konopleva, M., Evans, W.E., Jeha, S., Pui, C.H., Yang, J., Paietta, E., Downing, J.R., Relling, M.V., Zhang, J., Loh, M.L., Hunger, S.P., Mullighan, C.G. “PAX5-driven subtypes of B-


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