Non-invasive detection method for venous malformation and related syndromes

Abstract

The invention provides a non-invasive detection method for venous malformation and related syndromes. The non-invasive detection method at least comprises the following steps: providing sequencing data of venous malformation related genes in free DNA (Deoxyribose Nucleic Acid) of plasma of a detected object, wherein the vein malformation related gene is selected from one or more of TEK, PIK3CA, AKT1, MTOR and PTEN; and comparing the sequencing data with a reference sequence to obtain mutations related to vein malformation and related syndromes. 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. The method can be widely applied to mutation detection of people suffering from vein malformation and related syndromes, a perfect vein 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 venous malformation and related syndromes. Background technique [0002] Venous malformation is a common disease caused by the congenital malformation of venous endothelial cells. It often appears at birth, and it often occurs on the head and face, and can also involve the limbs and trunk. Static duct deformities affect the appearance and bring a huge burden of life to patients. In severe cases, they may even cause organ displacement, bone deformity, and dysfunction. Venous malformations are congenital malformations of blood vessels that develop as the individual grows and do not resolve spontaneously. Venous malformations are thought to result from aberrant signal transduction during embryogenesis, and in the past two decades, multiple causative genetic mutations have been identified and have begun to elucidate the pathophysiolo...

AI Technical Summary

Problems solved by technology

However, as a benign disease, venous malformation lacks the ability of proliferation, apoptosis and shedding of the lesion cells, and the content of free DNA

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