The CDKN2 gene alterations in various types of adult T-cell leukaemia

Toshiki Uchida, Tomohiro Kinoshita, Takashi Watanabe, Hirokazu Nagai, Takashi Murate, Hidehiko Saito, Tomomitsu Hotta

研究成果: Article査読

32 被引用数 (Scopus)


The CDKN2 gene, encoding the cyclin-dependent kinase-4 inhibitor p16, is a putative tumour-suppressor gene because it is frequently altered in many malignant tumours. We analysed the CDKN2 gene in 44 cases of adult T-cell leukaemia (ATL) by Southern blot analysis, polymerase chain reaction-mediated single-strand conformation polymorphism (PCR-SSCP) analysis, and direct sequencing. Southern blot analysis detected a homozygous deletion of the CDKN2 gene in 5/44 patients (11.4%). Mutational analysis by the PCR-SSCP method and direct sequencing showed one nonsense mutation at codon 72 (nucleotide 232), and two missense mutations at codon 43 (nucleotide 146) and codon 97 (nucleotide 309, 3/44, 6.8%). Therefore we found changes in the CDKN2 gene, including point mutations, in 18.2% of the patients with ATL. Interestingly, most of these patients had acute type ATL. Our results suggest that the CDKN2 gene is inactivated not only by homozygous deletion but also by point mutation, and these alterations contribute to the aggressiveness of ATL.

ジャーナルBritish Journal of Haematology
出版ステータスPublished - 1996

All Science Journal Classification (ASJC) codes

  • 血液学


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