PubMed · 6250984
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A S Evans. 1980. Progress on the EBV front.. https://doi.org/10.1093/ije%2F9.2.107
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CONTEXT: Mutations or deletions in the tumor-suppressor gene p53 are among the commonest genetic changes found in human neoplasms including breast, lung and bowel cancers. In hematological malignancies, p53 is most often mutated in Burkitt's lymphoma, with p53 mutations present in 30 to 40% of tumor samples and in 70% of cell lines. OBJECTIVE: To analyze the p53 gene alterations in child patients with B non-Hodgkin's lymphoma. DESIGN: Descriptive study. SETTING: Tertiary oncology care center. PARTICIPANTS: The study investigated 12 patients with childhood B non-Hodgkin's lymphoma (Burkitt's lymphoma). Screening for p53 mutations was done by polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) analysis of exon 5 to 8/9 of the gene. RESULTS: Abnormal polymerase chain reaction-single strand conformational polymorphism migration pattern was observed in 4 patients (33.3%), one on exon 6 and three on exon 7. Positive cases included 2 patients who died from disease. CONCLUSION: These preliminary results suggest that p53 mutations are quite frequent in children with Burkitt's lymphoma and may play a role in lymphoma genesis or disease progression.
Translocation (14;14)(q11;q32) was associated with acute lymphoblastic leukemia in a child. The B-cell lineage of the leukemic cells led us to perform FISH studies, which showed that the chromosomal breakpoints were telomeric to TCRA/D and IGH loci. These findings show that FISH analyses are necessary when unusual features are associated with a recurrent translocation.