Shih L Y, Fu J F, Shurtleff S A, Morris S W, Downing J R
Division of Hematology-Oncology, Department of Internal Medicine, Chang Gung Memorial Hospital, Chang Gung University, Taipei, Taiwan.
Genes Chromosomes Cancer. 2001 Apr;30(4):402-6.
To determine whether the BCL10 mutation plays a role in the oncogenesis of plasma cell dyscrasias, we used polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) and direct sequencing analysis and examined the genomic BCL10 mutations in 57 patients with multiple myeloma or plasma cell leukemia and 52 normal bone marrow samples. We found three polymorphic sequence variants, either alone or in combination, at codons 5 and 8, and in intron 1 at base 58 of the BCL10 gene in 37 patients with plasma cell dyscrasia. Identical aberrant band shifts were also observed in 34 normal marrow samples. No polymorphic variants were identified in exon 2 or 3 in either patient or control samples, and no pathogenic mutations were detected. Patients with plasma cell dyscrasias in Taiwan appeared to have a higher frequency of polymorphisms at codon 5 and intron 1 at base 58, and a lower frequency at codons 8 and 213. Our results suggest that BCL10 is not involved in the oncogenesis of plasma cell dyscrasias.
为了确定BCL10突变是否在浆细胞发育异常的肿瘤发生中起作用，我们使用聚合酶链反应-单链构象多态性（PCR-SSCP）和直接测序分析，检测了57例多发性骨髓瘤或浆细胞白血病患者以及52份正常骨髓样本中的基因组BCL10突变。我们在37例浆细胞发育异常患者的BCL10基因第5和第8密码子以及第1内含子第58位碱基处发现了三种多态性序列变体，这些变体单独或组合出现。在34份正常骨髓样本中也观察到了相同的异常条带迁移。在患者或对照样本的第2或第3外显子中均未鉴定出多态性变体，也未检测到致病突变。台湾浆细胞发育异常患者在第5密码子和第1内含子第58位碱基处的多态性频率似乎较高，而在第8和213密码子处的频率较低。我们的结果表明，BCL10不参与浆细胞发育异常的肿瘤发生。
