Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:Q06643 (non-Hodgkin's lymphoma)
 11,307 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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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PMID:Astrocytoma and B-cell lymphoma development in a man with a p53 germline mutation. 983 5

Familial and metachronous aggregations of malignant lymphoma are well-documented, but the molecular basis of a predisposition for development of lymphoma is as yet unclear. Malignant lymphomas have been described as part of the spectrum of neoplasias in Li-Fraumeni syndrome (LFS), which is associated with constitutional mutations of p53. However, p53 germline mutations have also, albeit less frequently, been described in patients not fitting the clinical definition of LFS. To clarify whether a genetic predisposition for lymphoma is associated with constitutional p53 mutations, DNA from normal blood lymphocytes of 12 lymphoma patients with a family history of lymphoma and/or with metachronous lymphoma (median age 37 years) was examined for mutations of p53 exons 4-8. One patient had four first-degree relatives with Hodgkin's disease, acute leukemia, and carcinomas, but the family history did not fulfill criteria of LFS. Four patients with Hodgkin's disease were diagnosed with metachronous non-Hodgkin's lymphoma as a second malignant neoplasm. No constitutional p53 mutations were detected in any of these patients, implying that outside the clinical spectrum of LFS, constitutional p53 mutations are rare in patients with lymphomas.
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PMID:Familial and metachronous malignant lymphoma: absence of constitutional p53 mutations. 1053 80