2021 May 17

Next generation sequencing: a new tool in the diagnosis of myelodysplastic/myeloproliferative neoplasms?

Researchers at the Josep Carreras Leukaemia Research Institute conclude that next generation sequencing of tumors would improve the prognosis in patients with myelodysplastic/myeloproliferative neoplasms, together with clinical data.

Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are an uncommon group of malignant diseases of the blood characterized by overlapping elements of both myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN). The incidence of MDS/NMP pathologies varies enormously, from 3 cases per 100,000 individuals over 60 years of age in chronic myelomonocytic leukemia (CMML), to 0.13 per 100,000 in juvenile myelomonocytic leukemia (JMML), according to the WHO.

Being in between two pathologies makes its diagnosis difficult and late, mostly relying on clinical elements, such as the morphology of peripheral blood or bone marrow samples. However, some studies have shown that more than 90% of patients carry somatic mutations in genes common among myeloid neoplasms.

To organize the available information and observe it as a whole, researchers Laura Palomo, Pamela Acha and Francesc Solé, from the Myelodysplastic Syndromes group at the Josep Carreras Leukemia Research Institute, have published a review in the specialized journal Cancers with all the genomic information available in the literature regarding hematological neoplasms MDS/MPN.

The analysis has allowed them to conclude that, although there does not appear to be any specific genetic marker for MDS/MPN, the alterations identified, undetectable using standard pathological and cytogenetic techniques, play an important role in the clinical heterogeneity of these diseases and their evolution.

The data show that the most affected genes in MDS/MPN pathologies are those related to epigenetic regulation, the expression of transcription factors, alternative splicing, signal transduction pathways -highly related to proliferative processes- and DNA repair mechanisms, among others.

According to the authors, although this information would not allow classifying a tumor as MDS/MPN alone, with clinical data and experience still being needed, it would be of great help to improve the prognosis of the disease and offer the best available treatment to the patient. Thus, they recommend incorporating, as far as possible, the use of next generation sequencing within the usual diagnostic tools. 

Reference article:

Palomo, L.; Acha, P.; Solé, F. “Genetic Aspects of Myelodysplastic/Myeloproliferative Neoplasms.” Cancers 2021, 13, 2120.