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Japanese Journal of Clinical Oncology, Vol 28, Issue 10 631-637, Copyright © 1998 by Foundation for Promotion of Cancer Research

ORIGINAL ARTICLE

Astrocytoma and B-cell lymphoma development in a man with a p53 germline mutation

Y Murakawa, A Yokoyama, S Kato, T Yoshioka, R Ichinohasama, T Kumabe, T Yoshimoto, C Ishioka and R Kanamaru
Department of Clinical Oncology, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan.

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.
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 Jpn J Clin OncolHome page
K. Kimura, K. Shinmura, T. Hasegawa, Y. Beppu, R. Yokoyama, and J. Yokota
Germline p53 Mutation in a Patient with Multiple Primary Cancers
Jpn. J. Clin. Oncol., July 1, 2001; 31(7): 349 - 351.
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