New classification for identifying HR myeloma based on cytogenetic abnormalities

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Published: 29 Oct 2024
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Dr Jill Corre - IUCT Oncopole, Toulouse, France

Dr Jill Corre speaks to ecancer about a new classification for identifying HR myeloma based on cytogenetic abnormalities.

Genetic risk factors significantly influence patient stratification and treatment strategies.

Recent advancements emphasise the importance of a genomic consensus that identifies specific mutations affecting treatment decisions.

The complexity of diseases, with various high-risk subgroups, necessitates collaboration among clinicians.

Effective communication and data sharing are vital, while challenges with next-generation sequencing technology and the FISH technique for mutation detection are also addressed.

Until now we were stratifying patients according to the revised ISS which considers that high-risk cytogenetic is a deletion 17p, t(4;14) or t(14;16). Then we had the revised two ISS and in this system the high risk factors were deletion 17p, t(4;14) and 1q gain. Now in the last decade there was a lot of progress, therapeutic progress, and in this era of triplet, quadruplet treatments we felt that this traditional cytogenetic factor no longer captured accurately the prognosis. So we decided with the IMS to have a workshop on a new genomic consensus definition. It was one year ago in Barcelona, two days of hard debate, a lot of data shared, a lot of discussion, and at the end of the day we had this new consensus. So a high risk patient now, according to this new genomic definition, is a patient with a deletion 17p in more than 20% of plasma cells or a patient with a TP53 mutation or a patient with a biallelic deletion 1p32 or a patient with at least two factors, two intermediate factors. Which are the intermediate factors? The translocation (4;14), (14;16), (14;20), 1q gain and monoallelic deletion 1p32.

So it can sound complicated because this new definition can be complicated to get in mind but this is myeloma and this is a complex disease and we have many little subgroups with high risk features. Now we can capture this population with this new definition.

How does the new classification system impact clinical decision-making and the personalisation of treatment for patients with high-risk myeloma?

This consensus was also important because it’s a big step towards risk-adapted treatment strategies. Some clinicians adapt their treatment to risk, not all clinicians. I think this is important to treat patients according to risk and it is also important to have the same language and to speak about the same patients if you are in France, in the US, in Germany and everybody now will know that the high risk patients, this is this consensus and we can compare and share the data between the trials. This is the only way to make progress in this population which remains, despite the big progress we made, this population remains an unmet medical need.

What challenges do clinicians face in implementing this new classification, particularly in terms of diagnostic technology, costs, and accessibility?

This is clearly an NGS, next generation sequencing, based definition but the panel recognised that this technology is not available everywhere. Nevertheless, it allows to capture all the important information in one technique but in the lab where NGS is not available it’s possible to go on performing FISH because with FISH you can know if your patients have a deletion 17p, a 1q gain. Some probes can detect both 1q gain and deletion 1p32 at the same time. So all available data with FISH can allow to stratify the patients, even if you don’t have the TP53 mutation it is okay.