Non-invasive detection method and device for arteriovenous malformation and related diseases

Abstract

The invention provides a non-invasive detection method for arteriovenous malformation and related diseases. The non-invasive detection method at least comprises the following steps: providing sequencing data of arteriovenous malformation related genes in free DNA (Deoxyribose Nucleic Acid) of plasma of a detected object, wherein the arteriovenous malformation related genes are selected from one or more of RASA1, EPHB4, PTEN, NRAS, HRAS, KRAS, BRAF, MAP2K1, MAPK1, MAPK3 and MAP3K3; and comparing the sequencing data with a reference sequence to obtain mutation related to arteriovenous malformation and related diseases. According to the invention, free DNA liquid biopsy is used for replacing tissue biopsy, a series of complications caused by tissue biopsy are avoided, non-invasion is achieved, operation is safe, materials are convenient to take, side effects are small, and materials can be taken repeatedly; and the method can be widely applied to mutation detection of people suffering from arteriovenous malformation and related diseases, a perfect arteriovenous malformation biological sample library is constructed, and original data support is provided for clinical and biological research.

Description

technical field [0001] The invention relates to the field of biological detection, in particular to a non-invasive detection method and device for arteriovenous malformations and related diseases. Background technique [0002] Extracranial arteriovenous malformation (Arteriovenous malformation, AVM), used to be called varicose hemangioma. Although the incidence of this vascular malformation is low (approximately 1 / 20,0000) as signs of local vascular pulsation and tremor, it may lead to dire consequences: damage to appearance and function, fatal arterial hemorrhage, and long-term unhealed ulcers , tissue organ or limb necrosis, and even heart failure leading to death. The growth of arteriovenous malformation is aggressive, can still regenerate clinically after complete surgical resection, and has characteristics similar to malignant tumors. Traditional surgical treatments such as partial excision and suture or vascular ligation may lead to rapid recurrence and aggravation o...

AI Technical Summary

Problems solved by technology

However, as a benign disease, arteriovenous malformation lacks the ability of proliferation, apoptosis and shedding of cells in the focus, and the content of free DNA in the peripheral circulation is very small. Common detection methods cannot be accurately detected, and detection methods with higher sensitivity are needed.

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