04 May 2020

Experts have proposed a new subtype of myelodysplastic syndrome (MDS), which could be diagnosed with new and simpler methods.

An international working group says that the subtype is based on the presence of mutations in the gene SF3B1. Found in about one in every five MDS patients, it is the most common genetic variant in people with MDS. Those who have it tend to have a less aggressive form of the disease.

The study, published in the latest edition of Blood, was led by Dr Luca Malcovati, of the University of Pavia Medical School in Italy. Dr Malcovati said: “This study represents an important step forward in the ability to diagnose MDS on the basis of genetic features, and this is paving the way to obtain a diagnosis without the need to analyse bone marrow.

“Patients who carry this genetic variant may benefit from treatment with an approved drug, luspatercept. In addition, other potential new treatments that directly target this genetic mutation are in the early stages of development and may benefit patients in the future.”

Selecting the best treatment for MDS depends on the patient’s specific subtype of the disease, which is often difficult to establish and often relies on looking at bone marrow through a microscope to identify abnormalities.

In this analysis, Dr Malcovati and his colleagues analysed the results of several previous studies that they say support the hypothesis that SF3B1-mutated MDS is a distinct subtype of the disease.

They also examined records from a large international database of patients with MDS, in which 795 patients had disease which carried a SF3B1 mutation and 2,684 did not.

The researchers concluded that SF3B1-mutated MDS has three main distinctive features: ineffective production of red blood cells, a relatively good prognosis, and a likelihood that patients’ anaemia will improve when treated with luspatercept, which promotes the growth and development of red blood cells.

The team believe that MDS patients with a SF3B1 mutation will be able to have a simple test to establish a definitive classification.

Source: Malcovati L, Stevenson K, Papaemmanuil E, Neuberg D, Bejar R, Boultwood J, Bowen DT, Campbell PJ, Ebert BL, Fenaux P, Haferlach T, Heuser M, Jansen JH, Komrokji RS, Maciejewski JP, Walter MJ, Fontenay M, Garcia-Manero G, Graubert TA, Karsan A, Meggendorfer M, Pellagatti A, Sallman DA, Savona MR, Sekeres M, Steensma DP, Tauro S, Thol F, Vyas P, Van de Loosdrecht AA, Haase DT, Tuechler H, Greenberg PL, Ogawa S, Hellstrom-Lindberg ES, Cazzola M (2020) “SF3B1-mutant myelodysplastic syndrome as a distinct disease subtype - A Proposal of the International Working Group for the Prognosis of Myelodysplastic Syndromes (IWG-PM)”, Blood, doi:  10.1182/blood.2020004850


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