Latest news with #LiFraumeni
Health Line
25-06-2025
- Health
- Health Line
Anaplastic Astrocytoma
This rare, aggressive type of cancerous brain tumor can cause headaches, seizures, and changes in behavior or cognitive (thinking) function. Treatment involves surgery combined with radiation and chemotherapy. Astrocytomas are a type of brain tumor. They develop in star-shaped brain cells called astrocytes, which form part of the tissue that protects the nerve cells in your brain and spinal cord. Astrocytomas are classified by their grade — grade 1 and 2 astrocytomas grow slowly, while grade 3 and 4 astrocytomas grow faster and more aggressively. An anaplastic astrocytoma is a grade 3 astrocytoma. While rare, this type of cancerous tumor can be very serious without treatment. Keep reading to learn more about anaplastic astrocytomas, including their symptoms and the survival rates of people who have them. What are the symptoms? The symptoms of an anaplastic astrocytoma can vary based on exactly where the tumor is, but generally include: headaches lethargy or drowsiness nausea or vomiting behavioral changes memory loss seizures vision problems coordination and balance problems What causes it? Researchers aren't sure what causes anaplastic astrocytomas. However, they may be associated with: genetic abnormalities immune system abnormalities environmental factors, such as exposure to UV rays and certain chemicals lifestyle factors, such as diet or stress People with certain genetic disorders, such as neurofibromatosis type I (NF1), Li-Fraumeni syndrome, or tuberous sclerosis, have a higher risk of developing anaplastic astrocytoma. If you've had radiation therapy on your brain, you may also be at a higher risk. How is it diagnosed? Anaplastic astrocytomas are rare, so your doctor will start by discussing your medical history and performing a physical exam to identify any other possible causes of your symptoms. They may also use a neurological exam to see how your nervous system is working. This usually involves testing your balance, coordination, and reflexes. You may be asked to answer some basic questions so they can evaluate your speech and mental clarity. If your doctor thinks you may have a tumor, they'll likely use imaging such as an MRI scan or CT scan to examine a picture of your brain. If you do have an anaplastic astrocytoma, these images will also show its size and exact location. In some cases, doctors use a PET scan or SPECT scan. These metabolic scans look at cellular activity in the brain rather than the detailed anatomy seen on an MRI. These tests can sometimes be helpful for assessing tumor cells. A biopsy may also be part of the diagnostic process and can involve removing as much of the tumor as possible. How is it treated? There are several options for treating an anaplastic astrocytoma, depending on the size, location, and grade of the tumor. Surgery Surgery is usually the first step in treating an anaplastic astrocytoma. In some cases, your doctor may be able to remove all or as much of the tumor as possible. However, anaplastic astrocytomas may grow in areas of the brain that are not safe or accessible for surgery, so your doctor may only be able to safely remove part of the tumor. Tumor cells that remain because they were not identified or were surgically inaccessible can grow quickly after surgery. Chemotherapy and radiation therapy If your tumor can't be removed with surgery or was only partially removed, you may need follow-up treatment. Radiation therapy destroys cells, especially rapidly dividing cancer cells. This will help shrink the tumor or destroy some or all of the cells that weren't removed during surgery. Anticancer drugs are referred to as chemotherapy and may be used with or after radiation therapy to continue treatment. Some people may also be treated with: epilepsy medication hydrocephalus treatment steroids physical therapy Survival rate and life expectancy According to the American Cancer Society, the 5-year relative survival rate for people with an anaplastic astrocytoma is as follows: 58% for those ages 22 to 44 29% for those ages 45 to 54 15% for those ages 55 to 64 The relative survival rate suggests how long someone with a condition may live after their diagnosis compared to those without the condition of the same race, sex, and age over a specific time. This is different from the overall survival rate, which is a percentage of people still alive for a specific time after diagnosis of a condition. It's most important to remember that these figures are estimates, and everyone is different. You can talk with your doctor about your specific condition. Several factors can affect your survival rate, including: the size, location, and grade of your tumor whether the tumor was completely or partially removed with surgery whether the tumor is new or recurring your overall health Your doctor can give you a better idea of your outlook based on these factors. The takeaway Anaplastic astrocytoma is a rare, aggressive type of cancerous brain tumor. Symptoms can vary but often include headache, seizures, and changes in behavior or cognitive function.
CTV News
30-05-2025
- Health
- CTV News
Belgium says 52 babies born from sperm donor with cancer-linked gene
A sperm is shown as it fertilizes an egg, leading to reproduction in the human body. (Sashkin/ Brussels, Belgium — A Danish sperm donor with a potentially cancer-causing gene fathered 52 children in Belgium between 2008 and 2017, the country's health ministry revealed Friday, in a case potentially involving several other children across Europe. According to a recent investigation by The Guardian, at least 10 cases of cancer have been identified among the 67 children born from his donations between 2008 and 2017. The man was reportedly in good health with no known family history of cancer, and had been tested in line with regulations in place at the time of the donations. But he was later found to carry a mutation of the TP53 gene that causes Li-Fraumeni syndrome (LFS), a rare hereditary disorder that significantly increases cancer risks, including for breast cancer or leukaemia. An alert was issued in 2023 after cancers were identified in some children conceived from his donations at a clinic in Denmark, and Belgium's Federal Agency for Medicines and Health Products was notified that year. But Health Minister Frank Vandenbroucke has said he learned about the case on Monday, and the government has declined to say how many Belgian cases involve confirmed cancer diagnoses. The scandal has exposed apparent breaches of Belgian law, which since 2007 has limited a single donor's sperm to no more than six women. 'That rule was exceeded nationally and within individual centres,' the health ministry said. An internal review has identified 37 affected families in Belgium, leading to 52 births. Authorities noted that not all children necessarily reside in Belgium. The donor's sperm was also reportedly used in at least nine other countries - Bulgaria, Cyprus, Germany, Spain, Hungary, Ireland, Greece, the Netherlands and Poland.
CNN
27-05-2025
- Health
- CNN
Sperm donor with rare genetic mutation fathered 67 children. Ten now have cancer, prompting calls for reform
The sperm of a man carrying a rare genetic mutation linked to cancer was used to conceive scores of children across Europe, prompting calls for greater regulation and a limit on the number of births allowed from a single donor. Sperm from the donor was used to conceive at least 67 children from 46 families born between 2008 and 2015, said Edwige Kasper, a biologist at Rouen University Hospital in France, during a presentation at the annual conference of the European Society of Human Genetics in Milan on Saturday. Ten of the children have already been diagnosed with cancer. 'At the heart of the problem seems to lie the regulation, or maybe the lack of regulation, of the number of births by a single donor,' she said. Analysis showed that the donor, who is himself healthy, had a rare mutation in a gene named TP53, which is likely to cause Li-Fraumeni syndrome, a rare disorder that increases a person's risk of developing cancer. The mutation was not known when the donation was made, but children born from this donor have since been identified in eight different European countries: Belgium, Denmark, France, Germany, Greece, Spain, Sweden and the United Kingdom, said Kasper in her presentation. Ten of them have been diagnosed with cancers such as brain tumors and Hodgkin lymphoma, and another 13 children are carrying the gene but have not yet developed a cancer. They will require regular medical examinations due to their increased risk of developing cancer, and have a 50% chance of transmitting it on to their own children, said Kasper. 'The follow-up protocol involves whole-body MRI scans, MRI scans of the brain and, for adults, of the breast, ultrasound examination of the abdomen, and a clinical examination by a specialist. This is heavy and stressful for carriers, but we have seen its effectiveness in that it has enabled early detection of tumours and thus improved patients' chances of survival,' said Kasper in a press release. Unlike in some cases of serial sperm donors, such as a Dutch man who was ordered to stop donating sperm after being found to have fathered between 500 and 600 children around the world, this man only donated to a single private sperm bank in Denmark named the European Sperm Bank. Julie Paulli Budtz, vice-president of corporate communications at the European Sperm Bank, told CNN that it was 'deeply affected by this case.' 'The donor has been thoroughly tested even above the required standards, but preventative genetic screening is reaching its limits here,' she said in a statement sent to CNN on Monday. 'Every human being has about 20,000 genes, and it is scientifically simply not possible to detect disease-causing mutations in a person's gene pool if you don't know what you are looking for.' There is currently no limit on the number of children that are allowed to be born using a single donor, something which Budtz said the European Sperm Bank would like to change. 'This is also why, in addition to following national pregnancy limits, we have proactively implemented our own international limit of 75 families per donor,' she said. This limit is self-imposed as regulations vary from country to country. For example, France has a limit of 10 births per donor, while Denmark allows 12 and Germany allows up to 15, according to the press release. 'There is a major issue here concerning a lack of harmonised regulation across Europe,' Kasper said in the release. 'We need proper regulation at European level to try to prevent it happening again, and to implement measures to ensure a worldwide limit on the number of offspring conceived from the same donor.'
