Klumb C E, de Resende L M, Tajara E H, Bertelli E C, Rumjanek V M, Maia R C
Laboratory of Cellular and Molecular Hematology, Hematology Service, Hospital do Câncer, National Cancer Institute, Rio de Janeiro, Brazil.
Sao Paulo Med J. 2001 Nov 1;119(6):212-5. doi: 10.1590/s1516-31802001000600006.
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.
To analyze the p53 gene alterations in child patients with B non-Hodgkin's lymphoma.
Descriptive study.
Tertiary oncology care center.
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.
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.
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.
肿瘤抑制基因p53的突变或缺失是在包括乳腺癌、肺癌和肠癌在内的人类肿瘤中发现的最常见的基因变化之一。在血液系统恶性肿瘤中，p53最常发生突变的是伯基特淋巴瘤，30%至40%的肿瘤样本以及70%的细胞系中存在p53突变。
分析儿童B非霍奇金淋巴瘤患者的p53基因改变。
描述性研究。
三级肿瘤护理中心。
该研究调查了12例儿童B非霍奇金淋巴瘤（伯基特淋巴瘤）患者。通过对该基因第5至8/9外显子进行聚合酶链反应-单链构象多态性（PCR-SSCP）分析来筛查p53突变。
4例患者（33.3%）观察到聚合酶链反应-单链构象多态性迁移模式异常，1例在第6外显子，3例在第7外显子。阳性病例包括2例死于该疾病的患者。
这些初步结果表明，p53突变在伯基特淋巴瘤患儿中相当常见，可能在淋巴瘤的发生或疾病进展中起作用。
