**Conflict of interest**

*Cytogenetics - Classical and Molecular Strategies for Analysing Heredity Material*

plexes (STAG2), and signal transduction (JAK2, KRAS, CBL) [21].

with induction chemotherapy in patients with IDH-mutant MDS.

ating agents and allogeneic HSCT.

novel molecular therapeutic targeting.

and have more favorable prognosis [29].

prognosis is SF3B1 mutation [30].

are rare end no longer favourable.

with concomitant therapy.

**7. Conclusion**

the diagnosis and management of patients with MDS.

targets [25, 26].

the RNA spliceosome machinery (SF3B1, U2AF1, SRSF2, ZRSR2), cohesion com-

Mutations in TP53, EZH2, ETV6, RUNX1, SRSF2 and ASXL1 occurs low survivals. [24] These mutations can predict responses treatment by hypomethyl-

described during MDS progression and represent potential therapeutic

Furthermore, internal tandem duplication of FLT3 (FLT3 -ITD), have been

Therefore, a better knowledge of the molecular landscape in MDS has crucial role for determination of implications on treatment response, prognostication, and

Mutations in isocitrate dehydrogenase 1 or 2 (IDH1 and IDH2) are important to identify at the time of diagnosis of high- or very high-risk MDS. These particular mutations lead to abnormal leukemogenesis. Mutated IDH1 or IDH2 are not common and are only found in approximately 4–12% of patients with MDS. Those gene mutations have treatment impact. Recently, two IDH inhibitors, specifically ivosidenib targeting IDH1 and enasidenib for IDH2, are approved by the United States Food and Drug Administration (FDA) for use in AML, but not in MDS [27, 28]. Both agents are undergoing investigation in combination with azacitidine or

Other mutations are very important to identify early because of their prognostic impact, like SF3B1 mutations, in fact mutations of SF3B1 are strongly associated with ring sederoblasts, and a typical SF3B1 can be presumptive evidence of MDS,

More than third of MDS patients with less than 5% of blasts will have an adverse gene mutation. These include mutations cited before like SRSF2, U2AF1, ASXL1, RUNX1, EZH1, TP53, IDH1, NRAS, and PRPF8, but the only mutation having good

For patient with MDS and having more than 5% of blasts (5–30% blasts), several

Somatic mutations alone are not great predictors of outcomes after treatment with approved MDS therapies, but mutations of TP53 and epigenic regulators like TET2 and DNMT3A have shown associations with response to hypomethylating drugs in some studies. In contrast of that, we do have a cytogenical marker there is very good for predictive response to therapy: it s about Del (5q) and lenalidomide. In fact patient having Del(5q) can response favourably to lenalidomide, if TP53 mutations are absents, because TP53 mutations indicate resistance to lenalidomide and predict relapse or progression even after allogeneic stem cell transplantation. Data are accumulating to support use of next-generation sequencing (NGS) in

The treatment and management of older patients with MDS is extremely challenging due to a number of reasons, including advanced disease, intolerability to therapy, significant comorbidities, and potential for more drug–drug interactions

Our knowledge about the genetics of myelodysplastic syndromes (MDS) and related myeloid disorders has been dramatically improved during the past decade,

in which revolutionized sequencing technologies have played a major role.

mutated genes retain their in higher risk MDS. In fact, mutation of TP53, CBL, RUNX1, PRPF8 are utch more common and remain adverse, and SF3B1 mutation

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Authors declare have no conflict of interest.
