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Current Issue
Volume 5,
Issue 17,
September 14, 2021

Featured Content

Germline variants in DNA repair genes, including BRCA1/2, may cause familial myeloproliferative neoplasms

The myeloproliferative disorders often involve mutations in JAK-STAT signaling. A small percentage of patients have familial forms of this disease. Elbracht and colleagues identified mutations in the BRCA1 and BRCA2 genes, advancing our understanding of familial predisposition and disease.

Current evidence on the efficacy and safety of generic imatinib in CML and the impact of generics on health care costs

Tyrosine kinase inhibitors such as imatinib have revolutionized the treatment of chronic myeloid leukemia (CML). However, they can be associated with a high financial burden. Erçalışkan and colleagues performed a systematic review on how the use of generics has impacted health care costs for the treatment of this disease.

Peripheral blood cytopenias in the aging general population and risk of incident hematological disease and mortality

A common clinical question is, To what extent do cytopenias that are observed in older patients predict hematological consequences? In a large study by van Zeventer and colleagues, this question was explored, with interesting and clinically relevant findings.

Discovery and validation of a novel subgroup and therapeutic target in idiopathic multicentric Castleman disease

Idiopathic multicentric Castleman disease is a poorly understood hematologic disorder that has diverse and broad clinical manifestations. In the study by Pierson and colleagues, a genetic approach revealed subgroups that respond to siltuximab, highlighting the heterogeneity of this disorder and the clinical utility of this type of analysis.

Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1

Somatic mutations in UBA1 have been reported in VEXAS syndrome. Obiorah and colleagues describe in detail the clinical hematological manifestations of patients with this newly defined disorder, demonstrating the propensity of these patients to develop cytopenias, myelodysplastic syndromes, multiple myeloma, and venous thromboembolism.

Impact of PTPN11 mutations on clinical outcome analyzed in 1529 patients with acute myeloid leukemia

Acute myeloid leukemia is known to be a disease with variable outcomes often impacted by a number of mutations that pose increased or decreased risk. Stasik and colleagues describe the role of tyrosine–protein phosphatase nonreceptor type 11 (PTPN11) mutations in a large number of patients, highlighting the negative association with survival for patients who harbor these mutations.

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