Clonal hematopoiesis by DNMT3A mutations as a common finding in idiopathic splanchnic vein thrombosis

Article Oncology

Sex-Biased ZRSR2 Mutations in Myeloid Malignancies Impair Plasmacytoid Dendritic Cell Activation and Apoptosis

Katsuhiro Togami et al.

Summary: Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is an aggressive leukemia primarily occurring in males, and the mutations in X chromosome gene ZRSR2 are associated with impaired dendritic cell function and predisposition to leukemic transformation.

CANCER DISCOVERY (2022)

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Article Hematology

Clonal Megakaryocyte Dysplasia with Normal Blood Values Is a Distinct Myeloproliferative Neoplasm

Giovanni Barosi et al.

Summary: This study identified 15 patients with atypical myeloproliferative disorder who exhibited distinct clinical, pathological, and molecular characteristics from other bone marrow disorders. The findings suggest that these patients have a unique myeloproliferative neoplasm, and the proposed name for this new disorder is clonal megakaryocyte dysplasia with normal blood values.

ACTA HAEMATOLOGICA (2022)

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Article Genetics & Heredity

Minor intron retention drives clonal hematopoietic disorders and diverse cancer predisposition

Daichi Inoue et al.

Summary: Loss of function of the minor spliceosome component ZRSR2 enhances hematopoietic stem cell self-renewal through minor intron retention of its target LZTR1, a regulator of RAS-related GTPases. Retention of LZTR1 minor introns was also identified in Noonan syndrome and different solid tumors, suggesting a potential link between minor intron recognition and regulation of hematopoiesis and cancers. Recurrent mutations in ZRSR2, minor introns, and LZTR1 suggest potential connections among ZRSR2 mutations, LZTR1 regulation, and leukemia development.

NATURE GENETICS (2021)

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Review Hematology