New genetic variants of TET2 and ASXL1 identified by next generation sequencing and pyrosequencing in a patient with MDS-RS-MLD and secondary acute myeloid leukemia.

Myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid neoplasms characterized by the presence of cytopenias, ineffective hematopoiesis and frequent transformation into secondary acute myeloid leukemia (secAML). Recent genomic studies provide unprecedented insight into the molecular landscape of clonal proliferation in MDS. Genetic diversity of both MDS and secAML subclones cannot be defined by a single somatic mutation. Mutations of the founding clone may survive over implemented chemotherapy and allogenic hematopoietic cell transplantation (alloHCT), but new subclonal mutations may also appear. Next generation sequencing (NGS) makes it possible to define the mutational profile of disease subclones during the treatment course and has a potential in pre- and post-alloHCT monitoring. Understanding the molecular pathophysiology of MDS may soon allow for monitoring the course of disease and personalized treatment depending on the mutational landscape. In the present paper we report, for the first time in MDS, ASXL1 c.1945G>T, TET2 c.4044+2dupT and c.4076G>T sequence variants. Moreover, we detected RUNX1 c.509-2A>C and SF3B1 c.1874G>T sequence variants. Furthermore, we verify the clinical utility of NGS and pyrosequencing in MDS and secAML.

[INHIBITORY EZH2 NOWA OPCJA TERAPEUTYCZNA W LECZENIU NAWROTOWEGO LUB OPORNEGO CHLONIAKA GRUDKOWEGO EZH2 INHIBITORS AS A NEW THERAPEUTIC OPTION FOR THE TREATMENT OF RELAPSED OR RECURRENT FOLLICULAR LYMPHOMA].

Follicular lymphoma (FL) is the most common of indolent non-Hodgkin's lymphomas. Its first-line treatment, based on immuno-chemotherapy with the anti-CD20 monoclonal antibody rituximab, is characterized by a high overall response rate to therapy. However, the disease is not curable in most cases and frequent relapses and transformations to other higher-grade lymphomas are observed. The effectiveness of the treatment of relapsed or refractory FL is not satisfactory, therefore the novel drugs are under investigation. Data from clinical trials with tazemetostat (an EZH2 inhibitor) in a group of patients with confirmed presence of the EZH2 mutation showed that this treatment may be an alternative to currently used chemotherapy regimens.

[Infectious complications in a course of multiple myeloma]. / Powiklania infekcyjne w przebiegu szpiczaka plazmocytowego.

Infections are the leading cause of mortality among patients with multiple myeloma (MM). This review presents etiology and epidemiological data concerning infectious complications in the course of MM, risk factors for its development and current indications for prophylaxis and treatment of infections in this group of patients.