NDRG1-PLAG1 and TRPS1-PLAG1 Fusion Genes in Chondroid Syringoma
NDRG1-PLAG1 and TRPS1-PLAG1 Fusion Genes in Chondroid Syringoma
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DOI：
10.21873/cgp.20184
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发表时间：
2020-05-01
影响因子：
2.5
通讯作者：
Heim, Sverre
中科院分区：
文献类型：
--
作者：
Panagopoulos, Ioannis;Gorunova, Ludmila;Heim, Sverre
背景/目的：软骨样汗腺瘤是一种罕见的起源于汗腺的良性肿瘤。虽然多形性腺瘤基因1 （PLAG1）的重排在这类肿瘤中有报道，但关于PLAG1融合基因的信息非常有限。材料与方法：对2例软骨样淋巴瘤患者进行细胞遗传学、荧光原位杂交、RNA测序、阵列比较基因组杂交、逆转录聚合酶链反应和Sanger测序分析。结果：两例肿瘤均有8号染色体结构重排。在第一个PLAG1外显子3与NDRG1外显子1融合的肿瘤中发现了NDRG1-PLAG1转录物。在第二软骨样淋巴瘤中检测到PLAG1的外显子2或外显子3与TRPS1的外显子1融合的TRPS1-PLAG1嵌合转录物。结论：NDRG1-PLAG1和TRPS1-PLAG1与其他PLAG1融合基因相似，PLAG1的表达受NDRG1或TRPS1启动子的控制。
Background/Aim: Chondroid syringoma is a rare benign tumor emanating from sweat glands. Although rearrangements of the pleomorphic adenoma gene 1 (PLAG1) have been reported in such tumors, information on PLAG1 fusion genes is very limited. Materials and Methods: Cytogenetic,fluorescence in situ hybridization, RNA sequencing, array comparative genomic hybridization, reverse transcription polymerase chain reaction, and Sanger sequencing analyses were performed on two chondroid syringoma cases. Results: Both tumors had structural rearrangements of chromosome 8. An NDRG1-PLAG1 transcript was found in the first tumor in which exon 3 of PLAG1 was fused with exon 1 of NDRG1. A TRPS1-PLAG1 chimeric transcript was detected in the second chondroid syringoma in which exon 2 or exon 3 of PLAG1 was fused with exon 1 of TRPS1. Conclusion: The NDRG1-PLAG1 and TRPS1-PLAG1 resemble other PLAG1 fusion genes inasmuch as the expression of PLAG1 comes under the control of the NDRG1 or TRPS1 promoter.