Lack of TERT Promoter Mutations in Human B-Cell Non-Hodgkin Lymphoma

Abstract

Non-Hodgkin lymphomas (NHL) are a heterogeneous group of immune cell neoplasms that comprise molecularly distinct lymphoma subtypes. Recent work has identified high frequency promoter point mutations in the telomerase reverse transcriptase (TERT) gene of different cancer types, including melanoma, glioma, liver and bladder cancer. TERT promoter mutations appear to correlate with increased TERT expression and telomerase activity in these cancers. In contrast, breast, pancreatic, and prostate cancer rarely demonstrate mutations in this region of the gene. TERT promoter mutation prevalence in NHL has not been thoroughly tested thus far. We screened 105 B-cell lymphoid malignancies encompassing nine NHL subtypes and acute lymphoblastic leukemia, for TERT promoter mutations. Our results suggest that TERT promoter mutations are rare or absent in most NHL. Thus, the classical TERT promoter mutations may not play a major oncogenic role in TERT expression and telomerase activation in NHL.

Keywords: TERT promoter; Telomerase; non-Hodgkin lymphoma.

Figure 1

Screening of TERT promoter mutations in Non-Hodgkin lymphomas (NHLs). (A) Schematic of the amplified region and the location of −124C>T and −146C>T in the TERT promoter. (B) Sequencing chromatographs of the TERT promoter locus in a glioma control that is heterozygous for −124C>T (top) and a representative NHL tumor sample that is wildtype at both positions (middle and bottom). ¹ A representative trace for wildtype at both positions.