Stegmaier K, Takeuchi S, Golub T R, Bohlander S K, Bartram C R, Koeffler H P
Division of Hematology/Oncology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Cancer Res. 1996 Mar 15;56(6):1413-7.
We have shown previously that loss of heterozygosity at chromosome band 12p13 is among the most frequent genetic abnormalities identified in acute lymphoblastic leukemia (ALL) of childhood. Two known genes map within the critically deleted region of 12p: TEL, the gene encoding a new member of the ETS family of transcription factors, which is rearranged in a variety of hematological malignancies; and KIP1, the gene encoding the cyclin-dependent kinase inhibitor p27. Both genes are, therefore, excellent candidate tumor suppressor genes. In this report, we determined the exon organization of the TEL gene and performed mutational analysis of TEL and KIP1 in 33 childhood ALL patients known to have loss of heterozygosity at this locus. No mutations in either TEL or KIP1 were found; this suggest that neither TEL nor KIP1 is the critical 12p tumor suppressor gene in childhood ALL.
我们先前已表明，12号染色体13区带杂合性缺失是儿童急性淋巴细胞白血病（ALL）中最常见的基因异常之一。两个已知基因定位于12p的关键缺失区域内：TEL，编码ETS转录因子家族新成员的基因，该基因在多种血液系统恶性肿瘤中发生重排；以及KIP1，编码细胞周期蛋白依赖性激酶抑制剂p27的基因。因此，这两个基因都是优秀的候选肿瘤抑制基因。在本报告中，我们确定了TEL基因的外显子结构，并对33例已知在此位点存在杂合性缺失的儿童ALL患者进行了TEL和KIP1的突变分析。未发现TEL或KIP1有突变；这表明在儿童ALL中，TEL和KIP1都不是关键的12p肿瘤抑制基因。
