mutations identify a molecular subgroup of diffuse large B-cell lymphoma with an unfavorable prognosis.

The 2016 World Health Organization classification defines diffuse large B-cell lymphoma (DLBCL) subtypes based on Epstein-Barr virus (EBV) infection and oncogenic rearrangements of as drivers of lymphomagenesis. A subset of DLBCL, however, is characterized by activating mutations in We investigated whether mutations could improve the classification and prognostication of DLBCL. In 250 primary DLBCL, mutations were identified by allele-specific polymerase chain reaction or next-generation-sequencing, rearrangements were analyzed by fluorescence hybridization, and EBV was studied by EBV-encoded RNA hybridization.

Platelet doubling after the first azacitidine cycle is a promising predictor for response in myelodysplastic syndromes (MDS), chronic myelomonocytic leukaemia (CMML) and acute myeloid leukaemia (AML) patients in the Dutch azacitidine compassionate named patient programme.

The efficacy of azacitidine in the treatment of high-risk myelodysplastic syndromes (MDS), chronic myelomonocytic leukaemia (CMML) and acute myeloid leukaemia (AML) (20-30% blasts) has been demonstrated. To investigate the efficacy of azacitidine in daily clinical practice and to identify predictors for response, we analysed a cohort of 90 MDS, CMML and AML patients who have been treated in a Dutch compassionate named patient programme. Patients received azacitidine for a median of five cycles (range 1-19).

Surgical debulking combined with photodynamic therapy to manage residual extramedullary plasmacytoma of the nasopharynx.

Extramedullary plasmacytomas (EMP) are rare plasma cell neoplasms that are mostly located in the mucosal surfaces of the upper aerodigestive tract. The standard treatment is radiotherapy (RT), with surgical resection reserved as salvage procedure. In this report a patient with a EMP, located in the nasopharynx and refractory to curative RT.

Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype.

Background: Pseudoxanthoma elasticum (PXE) is an inherited disorder of elastic tissue. We recently found that heterozygosity for the frequent (0.8% prevalence in Dutch population) R1141X mutation in the PXE gene coding for the ABCC6 transporter, is associated with a fourfold risk of premature coronary artery disease.

Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease.

Background: Pseudoxanthoma elasticum (PXE) is an inborn disorder of the connective tissue with specific skin, ocular, and cardiovascular disease (CVD) manifestations. Recently, we and others have identified mutations in the gene coding for the ABCC6 transporter in PXE patients with ocular and skin involvement. In the Netherlands, as in the rest of Europe, a particular premature truncation variant ABCC6 (R1141X) was found in a large cohort of PXE patients.