Adding genomics criteria to the classification of Myelodysplastic Syndromes improves its prognosis

Researchers from the Josep Carreras Leukaemia Research Institute have participated in a study analyzing the genomic characteristics of over two thousand Myelodysplastic Syndrome patients concluding that, together with the IPSS-R score, this information improves the definition of prognosis in terms of survival and acute leukemia transformation.

One in three patients diagnosed with a Myelodysplastic Syndrome (MDS), a usually good prognosis blood cancer, progress to a much more aggressive form of Acute Myeloid Leukemia (AML). To assess the risk of an MDS and its capacity to become an AML, doctors use the Revised International Prognostic Scoring System (IPSS-R), an index based on clinical, cytological and cytogenetic parameters. In the genomics era, failing to include information from molecular or genetic alterations is considered one of the main limitations of the IPSS-R index.

An international team has recently published the results of a genomic analysis made over 2.043 MDS patient samples that made it possible to classify them into eight groups, based on the particular genetic alterations of their malignant cells. Dr Laura Palomo, researcher from the Myelodysplastic Syndromes group at Josep Carreras Institute, and Dr Francesc Solé, the group’s Leader and ICO-Germans Trias i Pujol (Badalona) Campus Coordinator were involved in the study, published in the high-impact Journal of Clinical Oncology (IF=32,956).

Each of the eight identified groups show specific mutation patterns in genes SF3B1, TP53, SRSF2 or U2AF1, among others, associated or not with chromosomic issues such as chromosome 20 long arm deletion or chromosome 7 alterations. The paper demonstrates how each group, showing no correlation with WHO classification (2017), follows a distinct and unique evolution of the disease. By combining this new information with the IPSS-R score, the researchers have developed an algorithm capable of offering a tailored survival assessment for each patient.

Myelodysplastic Syndromes are a group of malignant blood diseases considered a form of cancer. All blood cells, red, white and platelets, are produced in the bone marrow from stem cells that grow and differentiate into each cell type. When this process is abnormal, it results in an aberrant production of cells that can be detected as a low amount in the blood. Depending on the affected type, patients can show anemia (red blood cells), thrombocytopenia (platelets) or leucopenia (white cells) and its associated consequences: fatigue, low coagulation capacity or a deficient immune response.

If the clinical relevance of the new MDS classification is confirmed, a better anticipation in the disease evolution could be reached, allowing for an optimal therapeutic treatment to maximize the chances of remission or enhanced survival.