NOTCH1 Mutations Are Associated With The 14q Deletion In Chronic Lymphocytic Leukemia (CLL) and Small Lymphocytic Lymphoma (SLL)
Nguyen-Khac F,Cosson A, Chapiro E ,et al.




Key Points:
  • Deletions of long arm of chromosome 14 rare (<5%) but recurrently observed in mature B-cell neoplasms, particularly in CLL.

  • Size of deletions variable, and molecular consequences unknown.

  • Data from 89 patients with CLL or Small Lymphocytic Lymphoma (SLL), harboring a del14q.

  • Compared with common CLL in literature, CLL with del14q dysplayed more tri12 (p<.03) and NOTCH1 mutations (p<.003), less del13q (p<.0006), more unmutated IGHV (p<.00001) and V1-69 repertoire (p<.00001).

  • Compared with common SLL in literature, SLL with del14q also exhibited more tri12, unmutated IGHV (p<.01) and V1-69 (p<.04).

  • 14q deletions appeared distributed along chromosome 14 from bands q11 to q32.

Implications:

  • Size of 14q deletion variable, with half of cases having recurrent interstitial deletion 14q24.1-14q32.3.

  • Both CLL and SLL with del14q, particularly with 14q24.1-14q32.3 deletion, associated with poor prognosis parameters (short time to treatment, trisomy 12, NOTCH1 mutated, and unmutated IGHV status), with overrepresentation of V1-69 gene.

Additional Comments:







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