Reactive oxygen species are typical by-products of cellular metabolism, being present in the pathogenesis of several oncological disorders. Their oncogenic nature is mainly related to disorders related to failures in cell proliferation and differentiation, so their correlation with Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML).

Understand the correlation between mutations in the ROS1 gene and the pathogenesis of myeloproliferative diseases.

This is a cross-sectional study, in which, through a sample of patients (N = 14) with MDS/AML who underwent a Next-Generation Sequencing (NGS) study, quantitative and qualitative genetic data were obtained for an epidemiological analysis regarding of the correlation between the pathogenesis of myeloproliferative diseases.

Within the sample used (N = 14), a prevalence of 57.1% mutations in the ROS1 gene was found, presenting an average of 2.1 number of mutations per patient and 44% of the allelic fraction involved. Among the types of mutations found, 47% were of the synonymous type, 29.4% of the splicing type, 17% of the missense type and 5.8% of the non frameshift deletion type.

The ROS1 proto-oncogene, found with great prevalence in the sample analyzed, is a gene known to be involved in the pathogenesis of cancer, but its relationship with myeloproliferative diseases is still poorly studied. Its expression encodes a tyrosine kinasereceptor, but its physiological function in cellular metabolism is still uncertain, what is known is that its activation is related to the activity of reactive oxygen species, which have the potential to contribute to disease progression of MDS and AML through the activation of thighers for the ROS1 gene, being the driver event of the hematopoietic disease and causing in effective repair of DNA damage and acquisition of oncogenic mutations by the metabolic pathway of pathogenesis. Another important fact is the fact that only 12.5% of patients with a mutation in the ROS1 gene were indicated for Hematologic stem cell transplantation (HSCT), which may indicate a certain trend in patients affected by this mutation.

Therefore, even with the pathogenesis pathway not fully defined, the relationship between the ROS1 gene and the development of myeloproliferative diseases is evident, especially when we look at the data presented in the sample used, in which more than half of the patients undergoing the genomic study presented a mutation of this segment of DNA. Furthermore, it is of great value to encourage further studies on the topic addressed, as there are target therapies for the highlighted mutation, which could possibly be studied and used in the management of MDS and MLA, aiming to improve the survival rate of these hematological diseases.