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BLOOD COMMENTARIES

PLENARY PAPER

Antiphospholipid syndrome (APS), with its often-lethal catastrophic subset (CAPS), is an acquired thrombophilia that leads to thrombosis and pregnancy loss. In a Plenary Paper, Chaturvedi and colleagues provide seminal new insights into the role of complement activation in APS pathophysiology and report a high prevalence of complement-regulatory gene mutations in patients with CAPS.

BLOOD SPOTLIGHT

The great strides in improving survival in pediatric acute lymphoblastic leukemia (ALL) have increased focus on prognostic features predicting relapse. In a Blood Spotlight, the authors highlight the current understanding of the negative prognosis associated with IKZF1 deletions and how recent findings have elucidated the complexities of its role in ALL.

HEMATOPOIESIS AND STEM CELLS

Two papers examining the heritability of clonal hematopoiesis of indeterminate potential (CHIP) yield highly concordant results. In independent studies of elderly monozygotic and dizygotic twins totaling over 350 pairs, Hansen et al and Fabre et al demonstrate that CHIP has a limited heritable basis, suggesting that environmental exposures are the leading contributors to clonal hematopoiesis.

Two papers examining the heritability of clonal hematopoiesis of indeterminate potential (CHIP) yield highly concordant results. In independent studies of elderly monozygotic and dizygotic twins totaling over 350 pairs, Hansen et al and Fabre et al demonstrate that CHIP has a limited heritable basis, suggesting that environmental exposures are the leading contributors to clonal hematopoiesis.

LYMPHOID NEOPLASIA

The authors present an integrated analysis of targeted sequencing, copy number arrays, and gene expression profiling to elucidate the molecular heterogeneity of pediatric and young adult large B-cell lymphoma.

MYELOID NEOPLASIA

Mutations in the transmembrane domain of the TPO receptor, encoded by exon 10 of the MPL gene, are drivers of a subset of JAK2-negative myeloproliferative neoplasms (MPNs). Bridgford et al used saturation mutagenesis to identify changes in exon 10 associated with cytokine-independent growth, identifying canonical, novel, and cooperating mutations, many of which were subsequently identified in patients with MPNs.

LETTER TO BLOOD

The authors report on the subset of AL amyloidosis patients with nonlymphoplasmacytic lymphoma, emphasizing a predominance of marginal zone lymphoma, frequent delay in diagnosis, and a generally poor prognosis.

BLOOD WORK

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