7p22 和 12q13 之间的不平衡染色体易位导致血管周细胞瘤融合。
An Unbalanced Chromosome Translocation Between 7p22 and 12q13 Leads to Fusion in Pericytoma.
机构信息
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
出版信息
Anticancer Res. 2020 Mar;40(3):1239-1245. doi: 10.21873/anticanres.14065.
BACKGROUND/AIM: Since the first description of five pericytomas with the t(7;12)/ACTB-GLI1 fusion gene, only three new tumors were studied by both cytogenetics and molecular techniques. We report here genetic data on another case of this rare tumor.
MATERIALS AND METHODS
Cytogenetic, fluorescence in situ hybridization (FISH), reverse transcription polymerase chain reaction (RT-PCR), and Sanger sequencing analyses were performed.
RESULTS
The pericytoma carried two structurally rearranged chromosomes: der(7)t(7;12)(p22;q13) and der(12)t(1;12)(q12;q13). In FISH experiments with a break-apart probe for GLI1, the distal part of the probe hybridized to der(7) whereas the proximal part to der(12). RT-PCR and Sanger sequencing detected an ACTB-GLI1 fragment in which exon 2 of ACTB was fused to exon 6 of GLI1.
CONCLUSION
The ACTB-GLI1 fusion gene was mapped at der(7)t(7;12)(p22;q13) and coded for a putative ACTB-GLI1 protein in which the first 41 amino acid (aa) of ACTB replaced the first 177 aa of GLI1.
背景/目的：自首次描述携带 t(7;12)/ACTB-GLI1 融合基因的五例血管周细胞瘤以来，仅通过细胞遗传学和分子技术研究了三个新肿瘤。我们在此报告该罕见肿瘤的另一个病例的遗传数据。
材料和方法
进行了细胞遗传学、荧光原位杂交 (FISH)、逆转录聚合酶链反应 (RT-PCR) 和 Sanger 测序分析。
结果
血管周细胞瘤携带两条结构重排染色体：der(7)t(7;12)(p22;q13) 和 der(12)t(1;12)(q12;q13)。在针对 GLI1 的分离探针的 FISH 实验中，探针的远端部分与 der(7)杂交，而近端部分与 der(12)杂交。RT-PCR 和 Sanger 测序检测到 ACTB-GLI1 片段，其中 ACTB 的外显子 2 与 GLI1 的外显子 6 融合。
结论
ACTB-GLI1 融合基因定位于 der(7)t(7;12)(p22;q13)，并编码一种推定的 ACTB-GLI1 蛋白，其中 ACTB 的前 41 个氨基酸 (aa) 取代了 GLI1 的前 177 个 aa。
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