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Issue 23, Volume 127

Cover Figure: A new macrothrombocytopenia syndrome.See the article by Stritt et al.

WASHINGTON, June 9, 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 high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss
These two papers describe elegant genomic approaches driven by next-generation sequencing in unraveling the genetic abnormalities in patients with bleeding and thrombotic disorders. In their plenary paper, Simeoni et al describe exciting results using a high-throughput sequencing platform with 63 targeted genes in patients with heritable bleeding and thrombotic disorders. In the other paper, Stritt et al describe a DIAPH1 variant as a cause of inherited macrothrombocytopenia and hearing loss.

Inherited platelet disorders: towards DNA-based diagnosis
Lentaigne and colleagues offer a review of the inherited platelet disorders grouped according to their effect on platelet biology and their clinical characteristics. They also discuss the challenge of identifying candidate genes and how integration of large genomic, epigenomic, and phenotypic data sets drives the discovery of novel mechanisms of disease to improve patient diagnosis and management.

Adult hematopoietic stem cells lacking Hif-1α self-renew normally
Vukovic et al provide compelling data to indicate that hematopoietic stem cells do not require the transcription factor Hif-1α to duplicate themselves (self-renewal) or reconstitute long-term hematopoiesis.

BRAF inhibition in hairy cell leukemia with low-dose vemurafenib
Dietrich and colleagues report that the low-dose BRAF inhibitor vemurafenib is highly effective in the treatment of refractory hairy cell leukemia with a BRAFV600E gene mutation.

miR-181a negatively regulates NF-κB signaling and affects activated B-cell–like diffuse large B-cell lymphoma pathogenesis
Patients with the activated B-cell–like subtype of diffuse large B-cell lymphoma (ABC DLBCL) not infrequently fail first-line rituximab and cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) chemotherapy, and novel therapeutic strategies are needed. Kozloski and colleagues identify miR-181a as a novel potent negative regulator of NF-κB signaling in ABC DLBCL.

Acquired intracoronary ADAMTS13 deficiency and VWF retention at sites of critical coronary stenosis in patients with STEMI
Pedrazzini et al take an important step toward revitalizing our view of coronary artery thrombosis and identifying a new target for the pharmacologic treatment of acute coronary syndromes. Their key observation is that compared with the systemic circulation, the ADAMTS13 antigen and activity are reduced at the local site of the coronary occlusion. Also, the ratio of ADAMTS13 to von Willebrand factor (VWF) appears to be altered locally in the coronary artery.

Is watch and wait still acceptable for patients with low-grade follicular lymphoma?
Multiple active new agents have been introduced into the therapeutic practice of low-grade follicular lymphoma (FL). In their Perspective article, Armitage and Longo address the question whether watch and wait is still an acceptable treatment recommendation for the newly diagnosed patient with low-grade FL.

Hepcidin in the diagnosis of iron disorders
In their Blood Spotlight, Girelli and colleagues explore the topic of the molecular basis of iron hemostasis and the role of hepcidin as well as its relevance in the diagnosis of various iron disorders.

How I vaccinate blood and marrow transplant recipients
This How I Treat article deals with the complicated topic of vaccination after allogeneic stem cell transplantation. Carpenter and Englund address the vast majority of practical questions that clinicians have about how and when to vaccinate patients after transplantation.

Decitabine enhances anti-CD33 monoclonal antibody BI 836858–mediated natural killer ADCC against AML blasts
Vasu et al show that a novel, Fc-engineered CD33 antibody, BI 836858, promotes NK cell–mediated antibody-dependent cellular cytotoxicity (ADCC) with in vitro activity against both acute myeloid leukemia (AML) cell lines and primary AML blasts.

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.

ASH’s mission is to further the understanding, diagnosis, treatment, and prevention of disorders affecting blood, bone marrow, and the immunologic, hemostatic, and vascular systems by promoting research, clinical care, education, training, and advocacy in hematology.

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