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Novel fusion gene for MiT familial translocation renal cell carcinoma and detection primer and application of novel fusion gene

A technology of renal cell carcinoma and fusion gene, applied in the field of medical testing, can solve the problems of long testing period, scarce testing platform, and high sample quality requirements, achieve reliable detection rate, improve detection rate and accuracy, and expand detection range Effect

Active Publication Date: 2017-11-21
NANJING GENERAL HOSPITAL NANJING MILLITARY COMMAND P L A
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Problems solved by technology

[0007] At present, high-throughput sequencing is the only detection method that can clarify unknown translocation sites. However, high-throughput sequencing is expensive, the detection cycle is long, the detection platform is scarce, and the requirements for sample quality are high, which is not conducive to popularization and promotion. For most patients It is not the preferred detection method

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  • Novel fusion gene for MiT familial translocation renal cell carcinoma and detection primer and application of novel fusion gene

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Embodiment 1

[0024] Embodiment 1 is verified for the case of definite diagnosis:

[0025] Through high-throughput sequencing technology, the team of the present invention detected the PRCC-MITF fusion gene in a case whose morphology conformed to the characteristics of MiT family translocation renal cell carcinoma, and found that the gene was composed of PRCC exon 5 and MITF exon 4 Fusion formed. For this case in which a new PRCC exon5-MITF exon4 fusion gene was detected by high-throughput sequencing RNA-seq, the primers we designed were used for verification.

[0026] 1. Extraction of RNA:

[0027] Strictly follow the RNeasy FFPE Kit operating instructions for extraction. ① Dewaxing: dewax the collected slides with xylene, rinse with absolute ethanol, air-dry and scrape off with a scalpel blade and put them into a 1.5ml EP tube; Proteinase K, mix well, enzymatically digest at 56°C for 15min, then at 80°C for 15min, cool on ice; ③add 16μl DNase buffer, then add 10μl DNase I, mix well, le...

Embodiment 2

[0031] Embodiment 2 detects for control group case

[0032] We analyzed 30 well-diagnosed control cases (including 10 cases of clear cell RCC, 5 cases of papillary RCC, 5 cases of chromophobe RCC, 5 cases of TFE3 translocation-associated RCC and 5 cases of TFEB translocation-associated kidney cancer, all of which theoretically do not have MITF gene translocation) were detected using the primer combination of the present invention, and the RNA extraction, reverse transcription PCR and sequencing methods were the same as above.

[0033] Results: No PRCC-MITF fusion gene was detected by using the primer combination designed in the present invention, which proves that the primers designed in this project have high specificity.

[0034] Evaluation: The primer combination of the present invention is a supplement to the original primers of the MiT family translocation renal cell carcinoma fusion gene, which expands the types of the MiT family translocation renal cell carcinoma fusion...

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Abstract

The invention discloses a novel fusion gene for MiT familial translocation renal cell carcinoma and a detection primer and application of the novel fusion gene. The gene is a PRCC-MITF fusion gene, and is formed by fusing a PRCC exon 5 and an MITF exon 4. A PCR primer for detecting PRCC-MITF translocation tumors comprises an upstream primer as shown in SEQ ID NO. 1 and a downstream primer as shown in SEQ ID NO. 2. The specific PCR primer is designed for the novel fusion gene discovered by high-throughput sequencing, the detection range of the original detection means is expanded, the novel fusion gene is applied to clinical application, and the detection ratio and accuracy rate of the MiT familial translocation renal cell carcinoma can be improved. The novel fusion gene provides a basis for diagnostic typing and molecular targeting treatment.

Description

technical field [0001] The invention belongs to the field of medical examination, and relates to a new fusion gene of MiT family translocation renal cell carcinoma, detection primers and application thereof. Background technique [0002] In 2016, a new type of renal cell carcinoma was added to the new WHO classification of kidney tumors by histopathology: MiT family translocation renal cell carcinoma. The MiT family is the abbreviation of the microphthalmia-associated transcription factor family, which includes MITF, TFE3, TFEB and TFEC genes. [0003] MiT family translocation renal cell carcinomas that have been discovered so far include Xp11.2 translocation / TFE3 gene fusion-related renal cell carcinoma and t(6;11)(p21;q12) translocation / TFEB gene fusion-related renal cell carcinoma. Tumors with MITF and TFEC gene translocations have not been reported in the literature worldwide. [0004] The pathogenic mechanism of MiT family translocation renal cell carcinoma is clear a...

Claims

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Application Information

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IPC IPC(8): C12N15/62C12Q1/68C12N15/11
CPCC07K14/47C07K2319/00C12Q1/6886
Inventor 饶秋夏秋媛时姗姗叶胜兵李芳秋周晓军
Owner NANJING GENERAL HOSPITAL NANJING MILLITARY COMMAND P L A
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