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Von Hippel-Lindau Syndrome

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Overview

What is Von Hippel-Lindau Syndrome?
Von Hippel-Lindau (VHL) syndrome is an genetic disorder in which small tumors and cysts appear in different parts of the body. Tumors and cysts can appear at any age, but are most common in young adults. Tumors linked to VHL syndrome can be cancer-related, although most are not. However, even when tumors or cysts are not cancer-related, they can cause serious health problems. Common symptoms include:

  • Hemangioblastomas: Hemangioblastomas are growths in new blood vessels. While these growths are usually not cancer-related, they can have lead to major health problems. They are most common in the brain, spinal cord, eye, kidney, and adrenal gland. Growths in the brain can cause headaches, vomiting, and problems moving, walking or balancing. Growths on the spinal cord can cause similar problems, particularly in moving and feeling, and can be painful. Growths at the back of the eyeball (retina) are often the first clinical symptom of VHL syndrome, and lead to a loss of vision.
  • Kidney: Tumors or growths on the kidney are common. In about 70% of people with VHL syndrome these growths or tumors can be cancer-related, called renal cell carcinoma.
  • Pancreas: Growths in the pancreas often have no symptoms, but can occasionally lead to problems digesting food. There is also an increased risk of pancreatic neuroendocrine tumors (i.e. growths in hormone and neurological systems), which can be cancer-related.
  • Genitals: The epididymis is a part of the genitals that connects to the testicles. Cysts are quite common, but usually do not cause problems. However, if cysts are found on both sides of the epididymis they can cause infertility.
  • Adrenal Gland: A type of tumor called pheochromocytoma is common and mainly affects the adrenal glands, located on top of each kidney. Pheochromocytomas usually do not cause any problems, but occasionally lead to headaches, panic attacks, sweating, or high blood pressure. Pheochromocytomas are most dangerous if they develop during pregnancy.
  • Inner ear: The endolymphatic sac is a small structure in the inner ear. Tumors in this sac can lead to hearing loss, vertigo, or ear-ringing (tinnitus).

VHL syndrome is caused by changes in the VHL gene. The VHL gene is known as a tumor suppressing gene, meaning it plays an important role in preventing tumors from developing. We inherit one copy of the VHL gene from each parent - if either copy of the gene has a mutation, then VHL syndrome can develop.

If diagnosed with VHL syndrome, several evaluations are recommended, including
  • Brain and spinal cord exam: A scan of the brain and spine is recommended to help check for growths. An MRI (magnetic resonance imaging) scan is the most common type of scan.
  • Eye exam: An eye exam can help to find any abnormal growths in the eyeball.
  • Abdominal exam: An ultrasound of the abdomen can similarly check for growths in and around the belly, and abdominal exams are recommended from about 16 years of age.
  • Kidney, adrenal gland, and pancreas exam: A CT (computed tomography) or MRI can check for growths in these areas.
  • Blood pressure: Should be checked regularly from infancy.
  • Urine tests: These can help identify problems in the adrenal gland (pheochromocytoma) and measurement usually begins from five years of age.
  • Hearing tests: Can help check for problems in the inner ear.
  • Genetic counseling: An appointment with a Genetic Counselor or Clinical Geneticist can help you understand more about the disease, risk to family members, and health management.

Treatments for VHL syndrome are mainly aimed at specific symptoms. The main treatment is to remove growths, and most surgeries can be completed safely. Where growths are not cancer-causing, your doctor may recommend regular monitoring rather than removal, and the recommendation will usually depend on the type of growth and where it is found. Similarly, if a growth is removed, the type of surgery used will depend on where it is found.

Regular monitoring is important to reduce the risk of serious health problems. People with VHL syndrome should have regular health checks including:
  • Yearly brain, spine, and other neurological tests. Brain and spine MRI scan every two years, including inner ear scan.
  • Yearly eye tests from one year of age
  • Hearing test every two years from five years of age, or every year if hearing problems have been detected before
  • Yearly blood pressure test from one year of age
  • Yearly urine rests from five years of age
  • Counseling or other forms of therapy can be helpful to help patients and family members in coping with VHL syndrome.
    • Patients with VHL syndrome should avoid smoking, and certain chemical and toxins. If a person has growths in the adrenal gland or pancreas, contact sports should also be avoided. Changes in the <i>VHL</i>gene are known to cause Von Hippel-Lindau Syndrome. About 1 in 36,000 people develop VHL sydrome, which increases the risk of developing tumors. Image created by Iconarray.com. Risk Science Center and Center for Bioethics and Social Sciences in Medicine, University of Michigan. Accessed 2017-08-23.

      What is the genetic test?
      Genetic testing allows us to identify people at risk of developing VHL syndrome. Changes in the VHL gene are known to cause the condition, and genetic testing allows us to identify those most at risk. The American College of Medical Genetics recommends testing and returning results for VHL syndrome. The genetic test can indicate if a person carries a genetic change associated with the disease, as well as other conditions discussed on this website.

      How will this affect my health care?
      When a person tests positive for a genetics risk of developing VHL syndrome, it is recommended that they receive diagnosis and health management as soon as possible. Genetic testing can be offered to family members as well. Consulting with a clinical geneticist or genetic counselor can help with health care decisions. In addition, deep testing for symptoms associated with VHL syndrome is recommended - tests and regular monitoring are described above

      Who is at risk?
      VHL syndrome is very rare, and affects about than 1 in 36,000 people. However, if a person has a relative with VHL syndrome, they are at a much greater risk of developing the condition. The Genetic Test section looks at inheritance of the disease in greater detail.

      Does my ancestry affect my risk?
      There is no strong evidence to link VHL syndrome with individuals of any particular ancestry.

      More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Treatment

VHL syndrome can affect many parts of the body ,and treatments depend on specific symptoms. Regular monitoring and testing is essential.

What are the treatments for VHL syndrome? Treatment for VHL syndrome will depend of the symptoms a patient develops. Because the condition can affect so many different parts of the body, regular tests are recommended to help guide healthcare. Relevant tests include:

    • Brain and spinal cord exam: A scan of the brain and spine is recommended to help check for growths. An MRI (magnetic resonance imaging) scan is the most common type of scan.
    • Eye exam: An eye exam can help to find any abnormal growths in the eyeball.
    • Abdominal exam: An ultrasound of the abdomen can similarly check for growths in and around the belly, and abdominal exams are recommended from about 16 years of age.
    • Kidney, adrenal gland, and pancreas exam: A CT (computed tomography) or MRI can check for growths in these areas.
    • Blood pressure: Should be checked regularly from infancy.
    • Urine tests: These can help identify problems in the adrenal gland (pheochromocytoma) and measurement usually begins from five years of age.
    • Hearing tests: Can help check for problems in the inner ear.
    • Genetic counseling: An appointment with a Genetic Counselor or Clinical Geneticist can help you understand more about the disease, risk to family members, and health management.

    If these tests reveal any health problems, the following treatments can be helpful:
    • Growths/tumors in the brain and spine can usually removed safely with surgery. Depending on the size and location of the growths, your doctor may prefer to remove the tumor immediately or to monitor with regular scans.
    • Growths on the eyeball a range of different options are available to remove growths, including laser surgery, radiation therapy, or extreme heat/cold treatments. Again, the size and location of growths will help to guide the best treatment option.
    • Renal cell carcinoma (kidney cancer): Early surgery is the best option for any growths more than 3 cm (just over an inch) in size. Removing part of a kidney may be possible - again this will depend on the size and location of the growth. The adrenal gland is usually not removed. For smaller growths, treatment called 'cryoablation' can be used to remove growths, which remove affected cells with extreme cold. Radiofrequency ablation is another treatment for small growths - this uses small electric current to remove affected cells. Patients with large growths may need to have the kidney removed - if both kidneys are removed, then a transplant will be needed. Family members may be available as kidney donors.
    • Pheochromocytomas: A type of tumor called pheochromocytoma is common and mainly affects the adrenal glands, located on top of each kidney. Pheochromocytomas usually do not cause any problems, but occasionally lead to headaches, panic attacks, sweating, or high blood pressure. Pheochromocytomas should be removed with surgery. Medications used to treat blood pressure - alpha-blockers (also called alpha-adrenergic antagonists), sometimes with beta-blockers (beta-adrenergic blockers) are often used before surgery. Removing part of the adrenal gland may sometimes be needed, and is often recommended in children.
    • Pancreatic growths: Although cysts on the pancreas are common, they do not usually affect the endocrine (hormone-releasing) system. Tumors on the pancreas may require surgical removal if they are of a certain size (larger than 3 cm (just over an inch), or show evidence of cancer.
    • Endolymphatic sac tumors (ELST): The endolymphatic sac is a small structure in the inner ear. Tumors in this sac can lead to hearing loss, vertigo, or ear-ringing (tinnitus). Surgery can be used to remove growths, which can help prevent hearing problems.


    Regular monitoring is important to reduce the risk of serious health problems. People with VHL syndrome should have regular health checks including:
    • Yearly brain, spine, and other neurological tests. Brain and spine MRI scan every two years, including inner ear scan.
    • Yearly eye tests from one year of age
    • Hearing test every two years from five years of age, or every year if hearing problems have been detected before
    • Yearly blood pressure test from one year of age
    • Yearly urine rests from five years of age
    • Counseling or other forms of therapy can be helpful to help patients and family members in coping with VHL syndrome.
      • Patients with VHL syndrome should avoid smoking, and certain chemical and toxins. If a person has growths in the adrenal gland or pancreas, contact sports should also be avoided.

        Can treatments cause any problems?

        • Several problems are associated with surgery to remove growths, and will depend on the the size of the growth and where it is located. Some common problems include bleeding, blood clots, damage to nearby tissues, damage to other organs, pain, infections, and slow recovery.
        • Surgical removal of growths may require a general anesthetic. Any surgery that requires a general anesthetic can carry a risk to the heart, or of chest infection. These risks are not great for people of a young age, but do increase with older age.
        • Sedatives used during surgeries can cause an allergic reaction, which can occasionally be severe.
        • Other drug treatments can have side-effects, some of which can be significant. Your doctor should be able to discuss these with you.

        More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Genetic Test

Why do a genetic test?
Genetic testing tells us who is most at risk of VHL syndrome. Testing for certain genes is particularly important if they are considered to be 'medically actionable' - meaning test results can be used to improve health care. Testing for FVHL syndrome offers the chance of early health management.

In the embedded video, Dr. Dan Roden of Vanderbilt University discusses how genetic testing has begun to influence treatment of patients.

What is the test?
To do a genetic test, a medical professional will use your DNA to try to see if you have a change in the VHL gene linked to VHL syndrome.

Many of the people who use this website are patients in hospitals who are part of the eMERGE network. These hospitals are using DNA sequencing to test patients for a number of diseases, including VHL syndrome, as recommended by the American College of Medical Genetics and eMERGE network members. Test results found to be medically ‘actionable’ (meaning they can be used to in patient health care) will be returned to patients.

I am concerned whether I should be tested or not, what should I do?
The decision to be tested might be one of the most important decisions you have to make. There are many things you may want to consider. For some people, genetic testing can have positive health benefits, while others may feel a lot of stress and worry. You can read more about these issues in the Concerns & Risks section. It may help to think about testing for a while before making a decision. You may also find it helpful to discuss issues with those close to you, or with your doctor/health professional.

What will the test result mean?
This test will tell your doctor whether you have a risk gene linked to VHL syndrome. We also test for a number of other diseases, as recommended for testing by the American College of Medical Genetics and the eMERGE network. If you are found to be at risk, your doctor or genetic counselor should help you understand your health care options.

What happens if I am found to be at risk?
If you are found to be at risk for any of the diseases that we test for, a health professional at your local site will attempt to contact you as soon as possible. Once we contact you, your doctor or genetic counselor should help you understand your health care options. These may include include increased monitoring of your health, including:

  • A physical exam
  • Having regular health checks
  • Taking a detailed family history of related problems
  • Family members may also be tested for genetic risk
  • Several treatments may be recommended (see the Treatment tab above)

What happens if I am NOT found to be at risk?
If you are found NOT to be at risk for any of the diseases that we test for, you will likely NOT be contacted. However, a small number of patients may receive a medical report with results, while other patients may be re-contacted about another research study

If you have not been rec-contacted, please DO NOT ASSUME that you have been tested. There are a number of reasons testing may not have happened yet. For example, studies can sometimes take a very long time to complete, and DNA samples are often not usable because of quality-control issues.

How is the test being performed?
Testing is performed on your DNA, usually from a blood sample. For many patients, your hospital or treatment center may already have some of your DNA stored in a biobank. You may be asked for an additional sample or be asked to give us permission to do testing on the existing samples.

Will it hurt?
For some patients, we may need an additional blood sample. Taking blood may cause some pain, bleeding or bruising at the spot where the needle enters your body. Rarely, taking blood may cause fainting or infection.

Is it safe?
There is a risk that you may experience pain or bleeding if you need to give an additional blood sample. Risks concerning privacy are discussed under Concerns & Risks.

How long will I have to wait for results?
Unfortunately, we cannot give an accurate estimate for the time you will have to wait for results - this will depend on the resources available at the location where you receive treatment and were tested.

Is this a standard test?
Although increasingly more common, this test is not yet standard, and is typically offered as part of a research study.

What type of test is this?

  • Is this test intended to help make a diagnosis? Yes
  • Is this test intended to predict a family history of disease? Yes
  • Is this test intended to check if I am a carrier for a particular disease? Yes
  • Is this test intended to screen for genetic disorders? Yes
  • Is this test intended to screen for disorders related to pregnancy? No
  • Is this test intended to screen for disorders related to newborns? No

Will I need to have this test done more than once?
No, you should not need to have this test done more than once. You will need to keep track of your testing result in order to share with all of your doctors, including those you see at other medical care centers.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Family

Will my genetic test results affect my family?
Your genetic test results may affect your family. In the embedded video, Maureen Smith, a researcher at Northwestern University, recommends first discussing genetic test results with your doctor. Your doctor may refer you to a genetic counselor, who can help you understand test results and guide you toward brochures and websites that can provide information for both you and your family.

  • Before your genetic test: Because genetic information is inherited, it is important to be aware that your genetic test results are often relevant to your family members as well. Results may indicate that you are at risk, or that you are a carrier (see below). Before you have a genetic test, it can be a good idea to think about if and how you would like to share results with your family. Your doctor or genetic counselor should be able to provide more information about this.
  • After your genetic test: For many of the diseases we test for, genetic test results may be relevant to your family members, as well as to you. You may be at risk, and you may be a carrier (see below). If you already have results, it is again important to think about sharing them with family. Again, your doctor or genetic counselor should be able to offer advice on how genetic testing may affect your family members.

Can you (briefly) explain heritability?
We each have about 24,000 genes, which carry the instructions for making and maintaining our bodies. For each gene we typically have two copies – one inherited from each parent. If genetic test results suggest you are at risk of developing a heritable disease, you will have inherited the risk from one or both your parents. Your brothers, sisters, children, parents, and other relatives may also be at risk of developing the same disease.
There are several ways we can inherit a genetic disease, which relates to whether it is recessive or dominant.

  • For a dominant condition, only one copy of a gene needs to be faulty to cause a disease. In this case, if you have one copy of a faulty gene, you may be at high risk of developing the disease. You could pass this faulty gene to one your child or children. VHL syndrome is a dominant condition.
  • For a recessive condition BOTH copies of a gene must be faulty to cause a disease. In this case, if a person has only one copy of a faulty gene, they may not be at much greater risk. However, they may pass the faulty gene to their children. Again, this person is called a carrier. VHL syndrome is NOT a recessive condition.
Please note that the Resources section provides links to a number of websites that provide a more detailed explanation of inheritance. Learn.Genetics at the University of Utah have an explanation, which we find quite good – you can check it out here.

What is a carrier?
As described above, each of us has two copies of each gene. For recessive genetic conditions, BOTH copies of the gene need to be faulty for the person to be at risk of developing the disease. If a person inherits one faulty copy and one normal copy, they are called a carrier. Although they should not be at greater risk, they may pass the faulty gene copy to their child or children. If they do, and the child also inherits a faulty gene copy from the other parent, that child will be at risk of developing the disease.

What family members could be affected?
If you have VHL syndrome, there is a 50% your child will too. Other family members are also at a much higher risk of having VHL syndrome.

My children are under 18 years of age – should they be tested?
The American College of Medical Genetics recommend testing children for most of the diseases listed on this website, including VHL syndrome. Early treatment to fight VHL syndrome is possible in children of three years of age, or sometimes younger, and testing is appropriate to guide treatment.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Concerns & Risks

What Should I Do If I Have Concerns About Genetic Test Results?
If you are concerned about genetic test results you have received, you should discuss your concerns with your doctor. Your doctor should be able to explain results to you, and may recommend you to a genetic counselor or another doctor that can further help you understand your results. Maureen Smith, a researcher at Northwestern University, discusses these concerns in the embedded video.

Is there a reason why I may be a specific risk?
For most of the disorders discussed on this site, the American College of Medical Genetics recommends genetic testing for individuals with available genetic data.

Are there any implications for having children?
Yes, please see the Family section

Can I expect to experience emotional consequences related to my test result?
A range of reactions are possible and normal. Some patients may experience anxiety or other negative reactions related to genetic testing and results. If this is the case, please discuss with your doctor, who can address your concerns and refer you another health professional if required.

Can I expect to experience social consequences related to my test result?
Some people may feel that there is a stigma attached to having a genetic disease. If you do experience or anticipate any negative social reactions, please discuss with your doctor who can address your concerns.

Can I expect to experience an increase in anxiety?
Many individual experience increased anxiety related to genetic testing. Again, please discuss with your doctor if this is the case.

Are there any implications in terms of discrimination arising from the test result?
Health insurance companies are prevented by law from discriminating against you based on your genetic test results. However, the same law does not apply to long-term disability insurance or to life insurance. Maureen Smith, a researcher at Northwestern University discussed these issues in the video on this page.

If I am found to be at increased risk for developing a disease, are there similar health implications for my family?
Yes, your results may have similar health implications for your family. Please see the Family section.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Sharing

Should I tell other health care providers about my test result?
We do recommend that you share this information with your health care providers. However, as explained by Maureen Smith, a researcher at Northwestern University, what you decide to do with your results is up to you.

Who will see my test results?
People who have access to your medical record will be able to see your genetic test result. This may include health professionals such as doctors, nurses, pharmacists, and genetic counselors. However, health professionals from other centers or hospitals will likely not have access to your results.

Should my other family members be tested?
If you are found to be at risk for a heritable genetic disease, your family may also be at risk. We discuss this further in the Family section.

Will this affect my health insurance?
No, your health insurance will not be affected by this test result. However, as discussed below by Maureen Smith, a researcher at Northwestern University, your life insurance and other areas of your life may be affected.

Who can I contact if they have any more questions?
You can contact your local center, where you received the test. The Resources section also includes a lot of websites that we recommend.

Is it there a risk to my privacy?
Research that uses information from medical records and that involves genetic testing can affect your privacy. Your participation in this research will be held strictly confidential, and only coded numbers will be used to identify specimens and research records. While it is impossible to absolutely guarantee that information in our secure system will never be known by others, we are taking every possible precaution to see that this does not happen.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Resources

We are compiling a list of websites to help you understand genetics and genetic test results. If you would like to suggest other resources for this section, please feel free to This email address is being protected from spambots. You need JavaScript enabled to view it.!
INFORMATION ABOUT VHL syndrome:

Weblink to VHL Alliance WebsiteVHL Alliance
The VHL Alliance is dedicated to research, education, and support to improve awareness, diagnosis, treatment, and quality of life for those affected by VHL.


Weblink to VHL Alliance HandbookVHL Alliance - VHL Handbook
A reference handbook for people with von Hippel-Lindau, their families, and support personnel from the VHL Alliance.


Weblink to Genetics Home ReferenceGenetics Home Reference
Extensive resource about rare and genetic and genetic diseases. The above link leads to their VHL syndrome disease pages. A link to the main site is provided below as well.


Weblink to Genetic and Rare Diseases Center (GARD) - VHL Syndrome ResourcesGenetic and Rare Diseases Center (GARD)
Supported by the NIH, this website has great resources for a huge range of genetic and rare diseases. The above link is to their VHL syndrome resource. A link to the main GARD site is provided below as well.


Weblink to CHOP VHL syndrome resouceCHOP Pediatric Resources
Extensive resource on a range of childhood diseases from the Children's Hospital of Philadelphia. The above link leads to their VHL syndrome pages.


INFORMATION ABOUT GENETICS AND GENETIC TESTING:

Weblink to Genetics Home Reference Genetics Home Reference
Consumer-friendly information about the effects of genetic variations on human health. Federally-supported resources, include reviews of more than 800 genetic diseases and more than 1000 genes.


Weblink to Learning Resources from the NHGRILearning Resources from the NHGRI
Lots of very good resources from the NHGRI, including major sections about The Human Genome Project, Facts Sheets, and educational resources for teachers and students.


Weblink to National Society of Genetic CounselorsFind a Genetic Counselor
The National Society of Genetic Counselors have a searchable database of genetic counselors. Their website also includes some education materials for patients and healthcare professionals.


Weblink to NHGRI Talking GlossaryNHGRI Talking Glossary
Talking glossary of genetic terms developed by the National Human Genome Research Institute. A huge range of definitions is provided by researchers from around the world.


Weblink to Help Me Understand GeneticsHelp Me Understand Genetics
Help Me Understand Genetics is a handbook from the National Institutes of Health that contain useful information about genetics in clear language and provides links to even more online resources. The entire handbook can also be downloaded as a pdf.


Weblink to the Genetic and Rare Diseases Information CenterGenetic and Rare Diseases Information Center (GARD)
A joint project from The Office of Rare Diseases Research (ORDR) and the National Human Genome Research Institute (NHGRI) that provides searchable information about genetic conditions and rare diseases. It also includes a list of FDA-Approved drugs and other medical products for treating rare disease.


Weblink to NORDNational Organization for Rare Disorders - Resources for Parents/Families
The National Organization for Rare Disorders (NORD) is a volunteer organization dedicated to empowering the rare disease community. Again, they have some very nice web resources.


Weblink to ELSIEthical, Legal and Social Implications Research Program
The ELSI Research Program supports examinations and investigations of the ethical, legal and social implications of genetics research.


Weblink to GINAGenetic Information Nondiscrimination Act of 2008
The Genetic Information Nondiscrimination Act of 2008, also referred to as GINA, is a new federal law that protects Americans from being treated unfairly because of differences in their DNA that may affect their health.


Weblink to Learn.GeneticsLearn.Genetics, University of Utah
Excellent resources, especially for those involved in education. Includes a catalog of animations, videos, interactive features, and virtual labs.


Weblink to the Dolan DNA Learning CenterDolan DNA Leaning Center
The DNALC provides genetics learning resources for teachers and students.


INFORMATION FOR RESEARCHERS:

Weblink to the ClinVar ACMG recommendations pageClinVar: ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing
Clinvar's dedicated ACMG page - a useful jumping-off point to the Genetic Testing Registry, OMIM, MedGen, and local ClinVar pages for each gene.


Weblink to VHL Syndrome GeneReviews pageGeneReviews
Frantzen et al: Von Hippel-Lindau Syndrome (updated August, 2015).


Weblink to International variations and trends in renal cell carcinoma incidence and mortality.International variations and trends in renal cell carcinoma incidence and mortality.
Znaor et al. (2015).


About

What is the purpose of this information?
Our aim is to provide information about why we do genetic testing. We try to answer some common questions and offer guidance on some personal and practical issues. This information is for anybody with questions about genetic testing for any of the diseases and drugs listed in this site.

Are there geographical differences in testing, service or treatment?
Different centers have different policies in terms of how tests are administered and results shared. However, the results discussed in this document should be relevant to most individuals tested for risk of developing genetic disease.

How is this paid for?
If you received this test as part of the eMERGE research study, neither you nor your insurance company will have to pay anything toward this test

When was this content last updated?
August 24, 2016.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.
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