SF3B1-mutated chronic lymphocytic leukemia shows evidence of NOTCH1 pathway activation including CD20 downregulation

Haematologica. 2021 Dec 1;106(12):3125-3135. doi: 10.3324/haematol.2020.261891.

Abstract

Chronic lymphocytic leukemia (CLL) is characterized by a low CD20 expression, in part explained by an epigenetic-driven downregulation triggered by mutations of the NOTCH1 gene. In the present study, by taking advantage of a wide and well-characterized CLL cohort (n=537), we demonstrate that CD20 expression is downregulated in SF3B1-mutated CLL in an extent similar to NOTCH1-mutated CLL. In fact, SF3B1-mutated CLL cells show common features with NOTCH1-mutated CLL cells, including a gene expression profile enriched of NOTCH1-related gene sets and elevated expression of the active intracytoplasmic NOTCH1. Activation of the NOTCH1 signaling and down-regulation of surface CD20 in SF3B1-mutated CLL cells correlate with over-expression of an alternatively spliced form of DVL2, a component of the Wnt pathway and negative regulator of the NOTCH1 pathway. These findings are confirmed by separately analyzing the CD20-dim and CD20-bright cell fractions from SF3B1-mutated cases as well as by DVL2 knock-out experiments in CLL-like cell models. Altogether, the clinical and biological features that characterize NOTCH1-mutated CLL may also be recapitulated in SF3B1-mutated CLL, contributing to explain the poor prognosis of this CLL subset and providing the rationale for expanding novel agents-based therapies to SF3B1-mutated CLL.

MeSH terms

  • Antigens, CD20
  • Down-Regulation
  • Humans
  • Leukemia, Lymphocytic, Chronic, B-Cell* / genetics
  • Mutation
  • Phosphoproteins / genetics
  • Prognosis
  • RNA Splicing Factors / genetics
  • Receptor, Notch1 / genetics

Substances

  • Antigens, CD20
  • NOTCH1 protein, human
  • Phosphoproteins
  • RNA Splicing Factors
  • Receptor, Notch1
  • SF3B1 protein, human

Grants and funding

Funding: MDB received funds via the Progetto Giovani Ricercatori, GR- 2011-02351370 and Progetto Ricerca Finalizzata PE-2016-02362756, Ministero della Salute, Rome, Italy. AZ received funds via the Progetto Ricerca Finalizzata RF-2018-12365790, Ministero della Salute, Rome, Italy. VG received funds via the Associazione Italiana Ricerca Cancro (AIRC), Investigator Grant IG-2018 (21687); Linfo-check - Bando ricerca - contributo art. 15, comma 2, lett b) LR 17/2014; Associazione Italiana contro le Leucemie, Linfomi e Mielomi (AIL), Venezia Section, Pramaggiore Group, Italy; and “5x1000 Intramural Program”, Centro di Riferimento Oncologico, Aviano, Italy. EV was supported by the Fondazione Umberto Veronesi, Post-doctoral Fellowships-year 2019