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    Home > Biochemistry News > Biotechnology News > In a common genetic disease, blood tests can show when a benign tumor becomes cancerous

    In a common genetic disease, blood tests can show when a benign tumor becomes cancerous

    • Last Update: 2021-09-13
    • Source: Internet
    • Author: User
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    People with a genetic disease of neurofibromatosis type 1 (NF1) usually develop into a non-cancerous or benign tumor that grows along the nerve
    .
    These tumors can sometimes become aggressive cancers, but there is currently no good way to determine whether this transformation has occurred

    .

    Researchers developed a blood test from part of the National Cancer Institute (NCI) Cancer Research Center (National Institutes of Health) and the Washington University School of Medicine in St.
    Louis.
    They believe that one day it will provide a highly sensitive blood test.
    And an inexpensive method to detect people with early NF1 cancer

    .
    This blood test can also help doctors monitor the patient's response to cancer treatment

    .

    The results of the study were published in the August 31 issue of "PLoS Medicine"
    .

    NF1 is the most common cancer susceptibility syndrome, affecting 1 in every 3000 people worldwide
    .
    The disease is caused by a mutation in a gene called NF1 and is almost always diagnosed in childhood

    .
    About half of NF1 patients will develop a large but benign tumor on the nerve, called plexiform neurofibroma

    .

    In 15% of patients with plexiform neurofibromas, these benign tumors will turn into aggressive cancers of malignant peripheral nerve sheath tumors (MPNST)
    .
    The prognosis of MPNST patients is poor, because the tumor can spread rapidly and often develop resistance to chemotherapy and radiotherapy

    .
    Among patients diagnosed with MPNST, 80% die within 5 years

    .

    "Imagine a lifetime with a cancer susceptibility syndrome like NF1
    .
    It's like a time bomb," said Jack F.
    Shern, MD, co-author of the study, who is the Lasker Clinical Study of the NCI Pediatric Oncology Division Scholar

    .
    "Doctors will pay attention to cancer tumors, and you will also pay attention to them, but you really want to find cancer as early as possible

    .
    "

    Doctors currently use imaging scans (MRI or PET scans) or biopsy to determine whether plexiform neurofibroma has transformed into MPNST
    .
    However, the biopsy results are not always accurate, and the surgical procedure is very painful for the patient because the tumor grows along the nerve

    .
    At the same time, imaging tests are expensive and inaccurate

    .

    "We currently don't have a tool to help us determine whether something bad is brewing in this huge, bulky benign plexiform neurofibroma, and it is becoming an MPNST," Dr.
    Shern said

    .
    "So we thought,'If we develop a simple blood test method, instead of whole-body MRI or fancy PET scans, we only need to pull out a blood tube and we can know if the patient has MPNST somewhere.
    How about it?'"

    Hirbe, MD, of the University of Washington School of Medicine and his collaborators collected blood samples from 23 patients with plexiform neurofibroma, 14 patients with MPNST who had not received treatment, and 16 healthy people who had not received NF1 treatment
    .
    Most study participants are teenagers and young adults, which is the age group where MPNST occurs most often

    .
    Researchers isolated cell-free DNA from blood samples, that is, DNA that fell from cells into the blood, and used whole-genome sequencing technology to find differences in genetic material between the three groups

    .

    The cell-free DNA of patients with MPNST has several characteristics that make it different from the DNA of the other two groups
    .
    For example, the cell-free DNA fragments in patients with MPNST are shorter than those in patients with plexiform neurofibromas or patients without NF1

    .
    In addition, the proportion of cell-free DNA from tumors called "plasma tumor fraction" in blood samples of MPNST patients is much higher than that of patients with plexiform neurofibroma

    .
    Together, these differences allow researchers to distinguish between patients with plexiform neurofibromas and patients with MPNST with 86% accuracy

    .

    Among MPNST study participants, plasma tumor scores were also consistent with their response to treatment
    .
    In other words, if their plasma tumor score decreases after treatment, then their tumor size and number (measured by imaging scans) will also decrease

    .
    The increase in plasma tumor score is associated with metastasis and recurrence

    .

    "You can imagine treating patients with chemotherapy regimens
    .
    This blood test can easily and quickly allow us to determine whether the disease is declining, or may even disappear completely.
    If you have surgery, MPNST, and the blood test is negative, you can use it To monitor the patient’s condition to see if the tumor has recurred

    .
    "

    Dr.
    Shern pointed out that one limitation of the current study is its small scale, even though it includes NF1 patients from two major hospitals

    .
    Researchers are planning to conduct larger trials on more patients

    .
    Dr.
    Shern said that the team’s goal is to increase the accuracy of blood tests from 86% to nearly 100%

    .
    One approach is to improve genetic analysis, focusing on genes known to be involved in MPNST

    .

    Dr.
    Shern said that simple and inexpensive blood tests for early detection of MPNST in NF1 patients are particularly useful in developing countries and other resource-poor areas where the equipment and expertise required for imaging are limited

    .

    This type of blood test can also be used for early detection and monitoring of patients suffering from other cancer-susceptible genetic diseases, such as multiple endocrine tumors, benign tumors can turn into cancer, or Lee-Fraumeni syndrome, which increases the prevalence.
    Kind of cancer risk

    .

    Dr.
    Shern said: "This is a great opportunity to apply these technologies.
    We can use simple blood tests to screen high-risk groups

    .
    " If the test results are abnormal, we know that it is time to take action to find tumors

    .
    "



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