期刊
BRITISH JOURNAL OF HAEMATOLOGY
卷 194, 期 4, 页码 718-729出版社
WILEY
DOI: 10.1111/bjh.17639
关键词
peripheral T-cell lymphoma; paediatric patients; Epstein-Barr virus; genetic alteration; fusion gene
类别
资金
- National Center for Child Health and Development [30S-2, 30-14B]
- Japan Agency for Medical Research and Development (AMED)
- Practical Research for Innovative Cancer Control from AMED [15649800, 18058870, 17929763]
- Japanese Society of Hematology Research Grant [19230]
- [18K15694]
- [18K07006]
Through studying tumor samples from pediatric PTCL patients, previously unreported gene mutations were identified, indicating different molecular mechanisms and genetic alteration characteristics compared to adult patients. Additionally, the association between EBV infection and PTCL onset suggests differential genetic alterations based on EBV status.
Peripheral T-cell lymphoma (PTCL) is a group of heterogeneous non-Hodgkin lymphomas showing a mature T-cell or natural killer cell phenotype, but its molecular abnormalities in paediatric patients remain unclear. By employing next-generation sequencing and multiplex ligation-dependent probe amplification of tumour samples from 26 patients, we identified somatic alterations in paediatric PTCL including Epstein-Barr virus (EBV)-negative (EBV-) and EBV-positive (EBV+) patients. As recurrent mutational targets for PTCL, we identified several previously unreported genes, including TNS1, ZFHX3, LRP2, NCOA2 and HOXA1, as well as genes previously reported in adult patients, e.g. TET2, CDKN2A, STAT3 and TP53. However, for other reported mutations, VAV1-related abnormalities were absent and mutations of NRAS, GATA3 and JAK3 showed a low frequency in our cohort. Concerning the association of EBV infection, two novel fusion genes: STAG2-AFF2 and ITPR2-FSTL4, and deletion and alteration of CDKN2A/2B, LMO1 and HOXA1 were identified in EBV- PTCL, but not in EBV+ PTCL. Conversely, alterations of PCDHGA4, ADAR, CUL9 and TP53 were identified only in EBV+ PTCL. Our observations suggest a clear difference in the molecular mechanism of onset between paediatric and adult PTCL and a difference in the characteristics of genetic alterations between EBV- and EBV+ paediatric PTCL.
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