New results from the Institute Josep Carreras and the German Branch of the Josep Carreras Foundation take us nearer to easier and more accurate testing for MDS
Scientists from the University Medical Centre Göttingen and the Josep Carreras Leukaemia Research Institute have shown that it is possible to make accurate diagnoses and identify people at risk of developing myelodysplastic syndromes from a peripheral blood test.
From the IJC Pamela Acha and Laura Palomo from the Myelodysplastic Syndromes Group, led by Francesc Solé carried out a large part of the work in conjunction with other members of the group, researchers from the Hematology Department at the Germans Trias I Pujol Hospital and the German team. The paper was published in the American Journal of Hematology.
“It is always a great satisfaction to carry out work that we know will benefit patients and make their lives easier,” said Acha.
“We are particularly pleased that this Deutsche Josep Carreras Leukämie Stiftung work was funded directly by the German Josep Carreras Foundation (Deutsche Josep Carreras Leukämie Stiftung), through their research grant scheme,” added Dr Solé, “This German-Catalan collaboration shows the power of us all working together for the same goals.”
Myelodysplastic syndromes (MDS) are malignant diseases of the bone marrow; the place where most blood cells develop. They are not inherited but can spontaneously develop when genetic alterations are acquired during cell development . Many different mutations have been identified in MDS patients and knowing which one an individual has is vital for providing treatment and also predicting how the disease will develop. Currently, patients undergo an unpleasant procedure to extract some bone marrow to provide a sample for analysis. This work shows that equivalent results can be obtained from a peripheral blood sample, which will improve the experience considerably for people undergoing tests.
Like other non-solid tumours, MDS are classified into different groups according to definitions laid down by the World Health Organization. Knowing which type a person has is vital to know how the disease will progress, how serious it will be and what treatments to apply.
The group used the same techniques to analyse mutations on cells from bone marrow samples and blood samples in 48 patients. They were able to identify genetic mutations in 90% of the patients. They confirmed that using a genetic analysis technique called next generation sequencing (NGS) they could make better predictions about how the disease might develop, especially in those with a lower risk disease. They also showed various ways to increase the quality of results from blood sample by concentrating specific types of blood cell.
The work shows that it is possible to make the same measurements and predict how the disease will develop in a patient from blood samples without extracting bone marrow. This is especially important for people who are being monitored and must be tested regularly.