Huang Wen-tao, Li Xiao-qiu, Yao Xiao-hong, Lu Yong-ming, Sheng Wei-qi, Lu Hong-fen, Zhou Xiao-yan
Department of Pathology, Fudan University Shanghai Cancer Center, China.
Zhonghua Bing Li Xue Za Zhi. 2012 Jun;41(6):371-5. doi: 10.3760/cma.j.issn.0529-5807.2012.06.003.
To investigate clinicopathologic features and clinical value of the chromosomal translocation involving anaplastic lymphoma kinase (ALK) in anaplastic large cell lymphoma (ALCL) by fluorescence in situ hybridization (FISH).
A total of 55 cases, including 45 cases of ALCL and 10 reactive lymphoid hyperplasia, were collected during 1999 to 2006 in the Department of Pathology, Fudan University Shanghai Cancer Center, and Xinhua Hospital Affiliated to Shanghai Jiaotong University. All cases were studied by FISH using dual color break apart probes of ALK for detection of chromosomal translocation, compared with the previous results of immunohistochemistry (IHC) and reverse-transcriptase polymerase chain reaction (RT-PCR) for the detection of ALK aberrations.
The result of FISH showed that the clear red and green fluorescence signals were detected in 38 cases of ALCL, in which conspicuous split signals were observed in tumor cells in 24 cases (63.2%), suggesting the rearrangement of the ALK locus, with multiple copies of ALK gene in one case. In addition, the rearrangement of the ALK locus was not identified in 14 of 38 cases (36.8%); and the FISH results were unable to be evaluated in 7 cases, because no fluorescent signals involving ALK gene were found or signals were too weak to be analyzed. The concordance for the detection ALK aberrations in ALCL between FISH and RT-PCR, FISH and IHC were both statistically significant (P < 0.01). Chromosomal translocation involving ALK gene was not found in all 10 cases of reactive lymphoid hyperplasia.
ALCL is an entity of lymphoma characterized by special clinical presentation, morphology, and ALK aberrations. FISH is helpful for detection of the chromosomal translocations involving ALK in ALCL, however, the detection efficiency by FISH may be affected by storage time of the paraffin-embedded tissue; and therefore combined detection with IHC and RT-PCR could complement each other and help for differential diagnosis of ALK(+)ALCL from ALK(-)ALCL.
通过荧光原位杂交（FISH）研究间变性大细胞淋巴瘤（ALCL）中涉及间变性淋巴瘤激酶（ALK）的染色体易位的临床病理特征及临床价值。
收集1999年至2006年复旦大学附属上海肿瘤医院病理科及上海交通大学附属新华医院的55例病例，其中包括45例ALCL和10例反应性淋巴组织增生。所有病例均采用ALK双色分离探针进行FISH检测染色体易位，并与之前免疫组织化学（IHC）及逆转录聚合酶链反应（RT-PCR）检测ALK异常的结果进行比较。
FISH结果显示，38例ALCL中检测到清晰的红色和绿色荧光信号，其中24例（63.2%）肿瘤细胞中观察到明显的分离信号，提示ALK基因座重排，1例存在ALK基因多拷贝。此外，38例中有14例（36.8%）未发现ALK基因座重排；7例因未发现涉及ALK基因的荧光信号或信号太弱无法分析，FISH结果无法评估。FISH与RT-PCR、FISH与IHC检测ALCL中ALK异常的一致性均具有统计学意义（P<0.01）。10例反应性淋巴组织增生均未发现涉及ALK基因的染色体易位。
ALCL是一种具有特殊临床表现、形态学及ALK异常的淋巴瘤实体。FISH有助于检测ALCL中涉及ALK的染色体易位，然而，FISH的检测效率可能受石蜡包埋组织保存时间的影响；因此，联合IHC及RT-PCR检测可相互补充，有助于ALK(+)ALCL与ALK(-)ALCL的鉴别诊断。
