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Issue 15, Volume 128

Cover Figure: Recurrent NDUFB11 gene mutation defines a new form of sideroblastic anemia. See the article by Lichtenstein et al.

WASHINGTON, October 13, 2016 – Welcome to “This Week in Blood,” a weekly snapshot of the hottest studies from each week’s issue of Blood, the official journal of the American Society of Hematology (ASH), hand-picked by Blood Editor-in-Chief Bob Löwenberg, MD, PhD, and Deputy Editor Nancy Berliner, MD.

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia
Lichtenstein and colleagues identify a recurring mutation in NDUFB11, a mitochondrial respiratory complex 1–associated protein encoded on the X chromosome, in five males with a congenital sideroblastic anemia. Their findings corroborate other evidence suggesting that sideroblastic anemia can be caused by dysfunction of the mitochondrial respiratory chain.

Atypical Pneumocystis jirovecii pneumonia in previously untreated patients with CLL on single-agent ibrutinib
Ahn et al report on Pneumocystis pneumonia complicating ibrutinib monotherapy for progressive chronic lymphocytic leukemia (CLL). Their clinical data raise important questions about Pneumocystis pneumonia, CLL, and ibrutinib therapy.

BRAF V600E mutation in hairy cell leukemia: from bench to bedside
In a comprehensive review, Falini et al discuss recent genetic discoveries in hairy cell leukemia, the molecular pathogenesis of the disease, and their therapeutic implications.

N-linked glycans within the A2 domain of von Willebrand factor modulate macrophage-mediated clearance
Despite recent advances in our knowledge of von Willebrand factor (VWF) clearance, the mechanisms and structural details of this process are still poorly understood. This report addresses the influence of N-linked glycans in the VWF A2 domain on VWF binding to and clearance by macrophages.

The interaction between fibrinogen and zymogen FXIII-A2B2 is mediated by fibrinogen residues γ390-396 and the FXIII-B subunits
An important, unresolved issue in fibrin clot formation is where factor XIII (FXIII) binds before catalyzing formation of covalent cross-links to fibrinogen. Byrnes et al used a novel combination of fibrinogen mutants and a variety of biochemical methods to assess putative binding sites and influences on affinity.

Matching for the nonconventional MHC-I MICA gene significantly reduces the incidence of acute and chronic GVHD
Results in this report by Carapito et al show that donor-recipient mismatching for MICA is associated with increased risks of acute graft-versus-host disease (GVHD), chronic GVHD, and nonrelapse mortality and a reduced risk of recurrent malignancy after allogeneic hematopoietic cell transplantation.

Targeting FLT3-ITD signaling mediates ceramide-dependent mitophagy and attenuates drug resistance in AML
Dany et al demonstrate a critical role of the ceramide-regulated signaling pathway in inducing mitophagy to cause cell death and overcome drug resistance of acute myeloid leukemia (AML) cells carrying internal tandem duplications (ITD) of the fms-like tyrosine kinase 3 (FLT3) gene.

Identification of novel regulators of developmental hematopoiesis using Endoglin regulatory elements as molecular probes
This paper sheds light on molecular aspects of developmental hematopoiesis from mesodermal differentiation to hemogenic endothelium and other distinct hematopoietic and endothelial populations. The investigators identify LRP2 as a gene implicated in definitive hematopoiesis in vivo that can also be used as a novel marker for hemogenic endothelium.

 

This week's complete table of contents

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Blood (www.bloodjournal.org), the most cited peer-reviewed publication in the field of hematology, is available weekly in print and online. Blood is the official journal of the American Society of Hematology (ASH) (www.hematology.org), the world’s largest professional society concerned with the causes and treatment of blood disorders.

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