Chang H, Bouman D, Boerkoel C F, Stewart A K, Squire J A
Hematology Division, The Toronto Hospital, Ontario, Canada.
Leukemia. 1999 Jan;13(1):105-9. doi: 10.1038/sj.leu.2401208.
Deletions or monosomy of chromosome 13 are frequent in multiple myeloma (MM). A candidate tumor suppressor gene might reside telomeric of the retinoblastoma gene (RBl) at band 13q14 and to play a role in B cell neoplasm. The D13S319 locus, between RB1 and D13S25 loci at 13q14 is the most commonly deleted marker in chronic lymphocytic leukemia (CLL) and non-Hodgkin's lymphoma (NHL). We evaluated the D13S319 locus in 24 MM cases by fluorescence in situ hybridization (FISH). We observed monosomy for D13S319 in 6/20 (30%) MM patients with an apparently normal karyotype. As expected, in four karyotypically abnormal MM cases with partial or complete monosomy for chromosome 13, all of them had monoallelic loss of D13S319. Our results indicated that the loss of D13S319 is commonly found in MM, even at diagnosis, and is more frequent than predicted based on conventional cytogenetic analysis of metaphase spreads. This finding implicates a candidate tumor suppressor gene at 13q14 in the pathogenesis of MM.
13号染色体的缺失或单体性在多发性骨髓瘤(MM)中很常见。一个候选肿瘤抑制基因可能位于13q14带成视网膜细胞瘤基因(RB1)的端粒处,并在B细胞肿瘤中发挥作用。位于13q14的RB1和D13S25位点之间的D13S319位点是慢性淋巴细胞白血病(CLL)和非霍奇金淋巴瘤(NHL)中最常缺失的标志物。我们通过荧光原位杂交(FISH)评估了24例MM病例中的D13S319位点。我们在6/20(30%)核型明显正常的MM患者中观察到D13S319单体性。正如预期的那样,在4例核型异常的MM病例中,13号染色体存在部分或完全单体性,所有这些病例都有D13S319单等位基因缺失。我们的结果表明,D13S319的缺失在MM中很常见,甚至在诊断时也是如此,并且比基于中期铺片的传统细胞遗传学分析预测的更为频繁。这一发现提示13q14处的一个候选肿瘤抑制基因在MM的发病机制中起作用。