Astrocytoma and B-cell lymphoma development in a man with a p53 germline mutation.
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.
Murakawa
Y
Y
Department of Clinical Oncology, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan.
Yokoyama
A
A
Kato
S
S
Yoshioka
T
T
Ichinohasama
R
R
Kumabe
T
T
Yoshimoto
T
T
Ishioka
C
C
Kanamaru
R
R
D000008:Abdominal Neoplasms / Q000235:genetics* / Q000473:pathology; D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001254:Astrocytoma / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D001932:Brain Neoplasms / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D016158:Genes, p53 / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics*; D019656:Loss of Heterozygosity; D016393:Lymphoma, B-Cell / Q000235:genetics* / Q000473:pathology; D008297:Male