Effectiveness of Ropeginterferon Alfa-2B in High-Risk Patients with Philadelphia Chromosome Negative Myeloproliferative Neoplasms- Evaluation of Clinicohaematologic Response, and Safety Profile: Single Centre Experience.

requires individualized approach depending on multiple factors. Novel pegylated Interferon (IFN) formulations have become an attractive therapeutic option in young Ph- MPN patients associated with better patient compliance. : In this retrospective observational study a total of 16 high-risk Ph- MPN patients treated off-label with ropeginterferon alfa-2b given twice monthly, were included.

Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression.

The majority of Gaucher Disease (GD) cases result from pathologic mutations in the GBA1 gene. A rich mutational spectrum of about 500 identified variants has been recognized. The disease is characterized by phenotypic diversity.

Early-Onset Colorectal Cancer in a Young Woman with Type 1 Gaucher Disease.

Introduction: Gaucher disease (GD) is a rare inherited lysosomal storage disease characterized by multi-system impairment. One of its main features is the over-expressed chronic stimulation and activation of the immune system, which may play a crucial role in the development of some malignancies associated with GD.

Case Description: We describe a young woman diagnosed with GD type 1 in early adulthood who developed early-onset colorectal cancer shortly after GD diagnosis and the initiation of enzyme replacement therapy.

Evaluation of the JAK2V617F Mutational Burden in Patients with Philadelphia Chromosome Negative Myeloproliferative Neoplasms: A Single-center Experience.

The identification of the JAK2V617F mutation in several distinct myeloproliferative neoplasms (MPNs) raised the question how one single mutation incites expression of at least three different clinical phenotypes, ., polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). In order to further evaluate already published data on the correlation between mutant JAK2V617F allele burden and specific hematological and clinical parameters, we tested the level of the JAK2 mutation in 134 JAK2+ patients with different MPNs.