Significance of JAK2 and TET2 mutations in myelodysplastic syndromes

SummaryThe pathogenesis of myelodysplastic syndromes involves a pattern of genetic, epigenetic, and immune-mediated mechanisms but little is known about what causes the specific disease features and promotes disease progression in the individual patient. The identification of JAK2 and MPL mutations, and more recently TET2, CBL and ASXL-1 mutations in these disorders provide a basis for increased understanding of disease biology and mechanisms behind progression. Such mutations are more commonly found in patients with a significant amount of marrow ring sideroblasts, and in patients belonging to the category of mixed myelodysplastic/myeloproliferative neoplasms, entities which are in focus for this review.