Volume 132, Issue 12



September 20, 2018 – 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.

Cover Figure: A novel mutation causing severe congenital neutropenia and features of SDS. See the article by Bellanné-Chantelot et al.

Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations
In this plenary paper, also this month’s CME article, Pellagatti et al use RNA sequencing analysis to characterize the landscape of splicing abnormalities associated with common spliceosome mutations in myelodysplastic syndromes. They identify a range of misspliced proteins that illuminate disease pathogenesis and prognosis.

Targeted therapy for fusion-driven high-risk acute leukemia
Recurrent chromosomal translocations are oncogenic drivers in leukemia, often in association with high-risk disease. In a Blood Spotlight, Pikman and Stegmaier review the newest therapies targeting the oncogenic fusion proteins resulting from these recurrent translocations.

Mutations in SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome
In 25% of patients with severe congenital neutropenia (SCN), the responsible gene mutation is unknown. Using whole exome sequencing, Bellanné-Chantelot et al identify mutations in the ribonucleoprotein SRP54 in 3 patients and subsequently, by targeted sequencing, in 20 other patients with unexplained SCN. This makes mutations in SRP54 the second most common cause of SCN.

Genome-wide screen identifies cullin-RING ligase machinery required for lenalidomide-dependent CRL4CRBN activity
Sievers et al report on a CRISPR-Cas9 screen for proteins required for lenalidomide activity in myeloma, identifying cereblon and downstream proteins required for lenalidomide-induced protein degradation and antimyeloma activity.

Platelets kill circulating parasites of all major Plasmodium species in human malaria
Platelets enhance the pathogenicity of malaria by increasing adhesion and clumping of infected erythrocytes, especially in cerebral malaria. However, Kho and colleagues show that platelets also have a positive role in the malaria response, directly contributing to the killing of malarial parasites.

The rise of apoptosis: targeting apoptosis in hematologic malignancies
Valentin and colleagues provide an overview of the biology and clinical data supporting the targeting of antiapoptotic proteins in hematologic malignancy and provide a perspective on how to integrate the BCL-2 family of protein inhibitors into therapeutic regimens.

Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita–like phenotypes
Tummala et al report evidence for mutations in the shelterin complex protein TPP1 as causative of a dyskeratosis congenita–like syndrome and bone marrow failure.

View this week's complete table of contents

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