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Chronic Leukemia

Schnaiter A, Paschka P, Rossi M et al.

Ulm University, Ulm, Germany.

 Blood 2013;122:1266–70.

Christopher Fox’s review: Next-generation sequencing studies have recently identified mutations in NOTCH1 (Notch homolog 1, translocation-associated [Drosophila]) and SF3B1 (splicing factor 3b, subunit 1) in chronic lymphocytic leukemia (CLL). NOTCH1 mutations occur in 5–15% of patients and generate a truncated but constitutively active protein. SF3B1 mutations have been identified in 10–20% of patients and their identification has led to questions relating to the pathogenic role of pre-mRNA splicing in hematological malignancies. Both SF3B1 and NOTCH1 have been associated with unmutated immunoglobulin heavy chain variable gene (IGHV) status, rapid progression, and inferior survival in initial studies in patients with hematological malignancies. Only approximately half of patients with refractory CLL harbor a 17p deletion and/or a TP53 mutation; preliminary data have implicated NOTCH1 and SF3B1 mutations as alternative causes of chemotherapy resistance in these patients.

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