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Brain Tumor - MedlinePlus Genetics

Summarized by Plex Scholar
Last Updated: 10 June 2022

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Rhabdoid tumor predisposition syndrome

"Rhabdoid tumor predisposition syndrome is characterized by a high risk of causing tumorous growths known as rhabdoid tumors. Multiple tumors that develop simultaneously may occur simultaneously in a synchronous manner, meaning that several tumors that occur independently can develop simultaneously. The rhabdoid tumors that appear in RTPS are most likely to grow and spread faster than those in children without this predisposition, and most affected individuals do not live past childhood. Rhabdoid tumors in the brain and spinal cord are classified as a typical teratoid/rhabdoid tumor. Rhabdoid tumors also occur outside of the central nervous system. Also within the same family, the type of rhabdoid tumor can vary among individuals with RTPS. In people with RTPS, tumors other than rhabdoid tumors may also occur. Women with RTPS are at an elevated risk of obtaining a rare form of ovarian cancer called small cell carcinoma of the ovary hypercalcemic variety. ".

Source link: https://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome


Nijmegen breakage syndrome

"The head does not grow at the same rate as the body's," says the body's "growth. " Individuals with Nijmegen breakage syndrome have distinctive facial features, including a sloping forehead, a prominent nose, large ears, a small jaw, and eyes that point upward. People with Nijmegen breakage syndrome have a malfunctioning immune system that has abnormally low amounts of immune system proteins such as immunoglobulin G and immunoglobulin A. T cells, which are also affected by an immune system cell deficiency, are also affected by a T cell deficiency. Individuals with Nijmegen breakage syndrome are at an elevated risk of developing cancer, the most common being a form of immune system cells called non-Hodgkin lymphoma. About half of people with Nijmegen syndrome have non-Hodgkin lymphoma, mostly before age 15. Other illnesses found in people with Nijmegen breakage syndrome include brain tumors such as medulloblastoma and glioma, as well as a muscle tissue cancer called rhabdomyosarcoma. People with Nijmegen breakage syndrome are 50 percent more likely to get cancer than those without the condition. In most people with this disorder for the first year or two of life, intellectual growth is normal, but then growth is slowed. Women that are premature ovarian failure and do not begin menstruation until age 16, or have irregular menstrual cycles are common. "Most women with Nijmegen breakage syndrome are unable to have biological children" says the majority.

Source link: https://medlineplus.gov/genetics/condition/nijmegen-breakage-syndrome

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions