Rearrangement of NOTCH1 or BCL3 can independently trigger progression of CLL

摘要

Recent data indicate that NOTCH 1 mutations significantly increase the risk of CLL progression toward Richter syndrome (RS) and chemoresistance, and that activation of N0TCH1 at time of CLL diagnosis is an independent prognostic factor of poor survival.1-3 We report here a case of CLL with a novel rearrangement of N0TCH1 identified at the time of RS. The patient, a 58-year-old male, was diagnosed with CLL (unmutated VH) in RS in June 2003. Cytogenetic analysis and FISH on peripheral blood (PBL), bone marrow (BM), and lymph node (LN) cells showed 2 related clones: one with an isolated +12 and a second with +12 and dic(9;14)(q34;q32) (supplemental Table 1, available on the Blood Web site; see the Supplemental Materials link at the top of the online article).