Astrocytoma and B-cell Lymphoma Development in a Man with a p53 Germline Mutation

Yasuko Murakawa, Akiko Yokoyama, Shunsuke Kato, Takashi Yoshioka, Ryo Ichinohasama, Toshihiro Kumabe, Takashi Yoshimoto, Chikashi Ishioka, Ryunosuke Kanamaru

研究成果: Article査読

5 被引用数 (Scopus)


We report a case with a germline mutation of the p53 gene develpoing both a non-Hodgkin's lymphoma and an astrocytoma. The astrocytoma could be cured by two operations and combined chemotherapy but 33 months after the onset of the disease, he suffered from a diffuse, large cell centroblastic malignant lymphoma of B-cell lineage. In spite of clear rearranged fragments observed with IgH and c-MYC gene probes, we could not diagnose a Burkitt's lymphoma morphologically. The malignant lymphoma was chemoresistant and the patient died of multi-organ failure. He was confirmed to have a germline mutation of the p53 gene by analysis of c-DNA from peripheral lymphocytes and loss of heterozygosity (LOH) of p53 was evident in the lymphoma. The results were suggestive of the Li-Fraumeni syndrome (LFS), a rare autosomal dominantly inherited syndrome with a germline mutation of p53 gene and diverse malignancies, but this could not be confirmed in the present case. Alternatively, a de novo mutation could have been involved.

ジャーナルJapanese journal of clinical oncology
出版ステータスPublished - 1998

ASJC Scopus subject areas

  • 腫瘍学
  • 放射線学、核医学およびイメージング
  • 癌研究


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