Department of Laboratory Medicine, Ewha Womans University School of Medicine, Seoul, Korea.
Int J Lab Hematol. 2011 Jun;33(3):299-304. doi: 10.1111/j.1751-553X.2010.01290.x. Epub 2011 Jan 28.
Interphase fluorescence in situ hybridization (FISH) can identify submicroscopic deletions adjacent to the breakpoints of rearrangements undetected by conventional cytogenetics. In this study, the characteristics and frequency of the IgH deletion identified by interphase FISH were investigated in patients with multiple myeloma (MM) and chronic lymphocytic leukemia (CLL).
The study group included 29 patients with MM and eight patients with CLL. Interphase FISH was performed with the IgH dual color, break-apart rearrangement probe and the IgH/CCND1 dual color, dual fusion translocation probe.
The IgH deletion was found in 14% (4/29) of patients with MM and 13% (1/8) of the patients with CLL. Four patients had deletions of the whole or variable region of IgH on the native chromosome 14, whereas one patient had a deletion of the IgH variable region on a der(11)t(11;14). In two patients, the IgH break-apart FISH showed both patterns with and without IgH deletions. In cases showing the same pattern by IgH break-apart FISH, the IgH/CCND1 FISH showed different patterns, and vice versa.
A variety of patterns of the IgH deletion were identified by interphase FISH using IgH break-apart and IgH/CCND1 probes in patients with MM and CLL. The results of this study suggest that the integrated information obtained with IgH break-apart and IgH/CCND1 FISH was needed to interpret FISH results unambiguously.
间期荧光原位杂交(FISH)可识别易位断裂点附近的亚微观缺失,这些缺失在常规细胞遗传学中无法检测到。在这项研究中,我们研究了多发性骨髓瘤(MM)和慢性淋巴细胞白血病(CLL)患者中通过间期 FISH 鉴定的 IgH 缺失的特征和频率。
研究组包括 29 例 MM 患者和 8 例 CLL 患者。使用 IgH 双色、断裂重排探针和 IgH/CCND1 双色、双融合易位探针进行间期 FISH。
在 29 例 MM 患者中有 4 例(14%)和 8 例 CLL 患者中有 1 例(13%)存在 IgH 缺失。4 例患者在原始 14 号染色体上存在 IgH 整个或可变区缺失,而 1 例患者在 der(11)t(11;14)上存在 IgH 可变区缺失。在 2 例患者中,IgH 断裂 FISH 显示了存在和不存在 IgH 缺失的两种模式。在 IgH 断裂 FISH 显示相同模式的病例中,IgH/CCND1 FISH 显示不同的模式,反之亦然。
在 MM 和 CLL 患者中,使用 IgH 断裂和 IgH/CCND1 探针通过间期 FISH 鉴定了多种 IgH 缺失模式。本研究结果表明,需要通过 IgH 断裂和 IgH/CCND1 FISH 获得的综合信息来明确解释 FISH 结果。