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Molecular marker for epithelioid vascular endothelial tumor and detection kit thereof

A detection kit and molecular marker technology, applied in the field of biomedical detection, can solve problems such as no research report on PDGFRA-USP46 fusion gene, and achieve strong operability and repeatability, high sensitivity and specificity, and abundant molecules. The effect of typing

Inactive Publication Date: 2022-07-22
BEIJING CHAOYANG HOSPITAL CAPITAL MEDICAL UNIV
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  • Application Information

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Problems solved by technology

At present, there are no research reports on PDGFRA-USP46 fusion gene in epithelioid hemangioendothelioma or other tumors at home and abroad

Method used

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  • Molecular marker for epithelioid vascular endothelial tumor and detection kit thereof
  • Molecular marker for epithelioid vascular endothelial tumor and detection kit thereof
  • Molecular marker for epithelioid vascular endothelial tumor and detection kit thereof

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Embodiment

[0036] The invention provides an epithelioid hemangioendothelioma molecular marker-PDGFRA-USP46 fusion gene and a quantitative detection kit thereof.

[0037] The technical idea is as follows: the applicant used RT-PCR and FISH technology to detect the common fusion genes WWTR1-CAMTA1 / YAP1-TFE3 and CAMTA1 / TFE3 gene rearrangements in a case of human epithelioid hemangioendothelioma paraffin-embedded tissue without results. , by high-throughput sequencing (RNA-sq) technology, a new fusion gene was detected in this sample: PDGFRA-USP46. Analysis found that the fusion gene consists of the end of the PDGFRA gene Exon 16 located on chromosome 4q12 and the end of the PDGFRA gene located on 4q12. USP46 gene Exon 2 front-end fusion to form ( figure 1 A), belongs to the splice-site fusion site in the inversion type, and its fusion sites are PDGFRA-chr4: 55146649 and USP46-chr4: 53497311, respectively.

[0038] Since this PDGFRA-USP46 fusion gene was discovered for the first time at hom...

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Abstract

The invention relates to the technical field of biomedical detection, in particular to a molecular marker PDGFRA-USP46 fusion gene and a kit for epithelioid vascular endothelioma, the molecular marker is the PDGFRA-USP46 fusion gene, and the nucleotide sequence of the molecular marker is as shown in SEQ ID No.1. The fusion gene is formed by fusing the tail end of a PDGFRA gene Exon 16 located on a chromosome 4q12 and the front end of a USP46 gene Exon 2 located on the chromosome 4q12, and belongs to a split-site fusion site in an inversion type. The kit for detecting epithelioid vascular endothelioma based on the one-step qRT-PCR technology can realize absolute quantitative detection of PDGFRA-USP46 mRNA in paraffin-embedded tissues, and is relatively high in sensitivity and specificity and strong in operability and repeatability.

Description

technical field [0001] The invention relates to the technical field of biomedical detection, in particular to a PDGFRA-USP46 fusion gene, a molecular marker of epithelioid hemangioendothelioma, and a one-step qRT-PCR detection kit. Background technique [0002] Epithelioid Hemangioendothelioma (EHE) is a rare malignant vascular tumor, first reported and described by Weiss and Enzinger in 1982 as a group of vascular tumors occurring in the surrounding soft tissue. According to the sarcoma classification published by WHO in 2020, EHE is divided into two types, one is the common classical gene t(1;3)(p36.3;q25) translocation to form the WWTR1-CAMTA1 fusion gene, and the other is Formation of the uncommon YAP1-TFE3 fusion gene. Up to now, about 100 cases of EHE have been reported in domestic and foreign literatures, but there is still insufficient understanding of its clinicopathological and molecular genetic characteristics. About 90% of EHEs are associated with the WWTR1-CAM...

Claims

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Application Information

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IPC IPC(8): C12Q1/6886C12Q1/6851C12N15/11
CPCC12Q1/6886C12Q1/6851C12Q2600/158C12Q2531/113C12Q2545/113C12Q2563/107
Inventor 李锋王凯歌曹嘉晨陶林张莹贾兴元宋凌勰文豪
Owner BEIJING CHAOYANG HOSPITAL CAPITAL MEDICAL UNIV
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