Research reveals the molecular landscape of myelodysplastic/myeloproliferative neoplasms

NewsGuard 100/100 Score

Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) is a group of rare malignancies with overlapping features from myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN), that include a variety of diseases depending on their phenotype (hematological and morphological characteristics). Adult MSD/MPN include Chronic Myelomonocytic Leukaemia (CMML), atypical chronic myeloid leukemia (aCML), MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T) and MDS/MPN unclassifiable (MDS/MPN-U).

Due to overlap features among these diseases, as well as with MDS and MPN, differential diagnosis remains a challenge. For hematologists, deciding a diagnosis of these rare malignancies is a broad process that involves the use of different tests and techniques, a long way of analyses, tests, prognosis evaluation, and decision making. In the end, the lack of knowledge that could allow a more precise and fast diagnosis to decide the best treatment and enhance good prognosis prolongs the patient's pain.

Laura Palomo and her colleagues from the MDS Group coordinated by Francesc Solé, from the Josep Carreras Leukaemia Research Institute, in a study led by Torsten Haferlach and his team from the Munich Leukemia Laboratory (MLL), have recently published a study in the Journal Blood that reveals the molecular landscape of these diseases and the combination of genes exclusively mutated in each of these rare neoplasms. These findings provide a useful tool to complement current diagnostic workup in MDS/MPN patients.

In previous studies, over 90% of MDS/MPN harbored somatic mutations in a group of known genes, which are related to their pathophysiological features and play a role in their clinical heterogeneity, but none of them was specific of MDS/MPN. In our study, made with whole-genome data from a cohort of 367 patients with MDS/MPN, we identified genotype-phenotype associations and potential diagnostic and prognostic molecular markers that could translate to medical practice. We also wanted to provide novel insights into the clonal hierarchy of mutations of MDS/MPN."

Laura Palomo, Josep Carreras Leukaemia Research Institute

Researchers found recurrent combinations of mutations exclusive to some extent to CMML, aCML, and MDS/MPN-RS-T, while MDS/MPN-U show heterogeneous features that overlap with the other MDS/MPN, but that can be classified according to their molecular profile. For Palomo, "It is imperative to include targeted DNA sequencing techniques in clinical hematology laboratories to improve the diagnosis and risk stratification of these hematological malignancies."

This project is part of an international effort from the MLL, the 5000 Genomes Project. This project includes whole-genome and transcriptome sequencing of 5000 patients with hematological neoplasms and is funded by the Torsten Haferlach Leukämie Diagnostikstiftung.

Source:
Journal reference:

Palomo, L., et al. (2020) Molecular landscape and clonal architecture of adult myelodysplastic/myeloproliferative neoplasms. Blood. doi.org/10.1182/blood.2019004229.

Comments

The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of News Medical.
Post a new comment
Post

While we only use edited and approved content for Azthena answers, it may on occasions provide incorrect responses. Please confirm any data provided with the related suppliers or authors. We do not provide medical advice, if you search for medical information you must always consult a medical professional before acting on any information provided.

Your questions, but not your email details will be shared with OpenAI and retained for 30 days in accordance with their privacy principles.

Please do not ask questions that use sensitive or confidential information.

Read the full Terms & Conditions.

You might also like...
Ultra-processed foods raise chronic kidney disease risk, study shows