36-year-old Ms. Luo had just given birth to her second child. She was still immersed in joy and accidentally discovered that the " thyroid nodule " that she had been observing regularly suddenly became larger. Out of sensitivity to the disease, she immediately went to the hospital. Check up at the hospital.
As expected, during further examination she was diagnosed with anaplastic thyroid cancer, which is an extremely dangerous type of thyroid cancer with poor prognosis.
During the treatment, she thought about one thing: Her grandmother died early due to cancer, her father suffered from four types of cancer, her brother lymphoma , two aunts suffered from breast cancer , and an uncle had a history of liver cancer , a cousin was a lung cancer patient, and a cousin passed away from lung cancer...
"There are already 8 people in a family suffering from cancer, and they were all diagnosed at a young age." This time, Ms. Luo wanted to figure out this "mystery" of the family. ".
In order to find the tumor threat factors hidden in the family, she came to Zhejiang Provincial Cancer Hospital and found Professor Sudan, the head of the pathology department, hoping to find the answer.
Professor Sudan and his team conducted gene testing on 18 members of Ms. Luo’s paternal family to investigate whether there were any chromosomal abnormalities. After a period of research and molecular pathology testing and interpretation, it was discovered that Ms. Luo’s family suffers from a rare autosomal dominant genetic disease - Li-Fraumeni syndrome.
"It is a rare hereditary tumor syndrome. is mainly caused by germline mutations of the tumor suppressor gene TP53. can lead to the occurrence of different cancers in multiple organs. People who carry this mutated gene have an increased risk of tumor occurrence, and many They all occur at a young age."
Professor Sudan said that hereditary tumors can occur in multiple organs and parts of the body. Common clinical ones are hereditary breast cancer ovarian cancer syndrome and Lynch syndrome (the most common ones). Rectal cancer and endometrial cancer susceptibility syndrome) all fall into this category. The diagnosis of hereditary tumors often requires genetic testing.
However, Professor Sudan also pointed out that generally all cancer patients encountered are sporadic. Only 5%-10% of tumors are hereditary tumors. As long as they are detected early, the prognosis is generally better than that of sporadic tumors. For example, Ms. Luo's father has a history of gastric cancer, kidney cancer, lung cancer, colon cancer. After treatment, he is now living in good condition.
Now, after more than two years of treatment, Ms. Luo's condition has stabilized, and the tumor has not shown any new progress. After understanding the ins and outs of her family's medical history, she feels much calmer.
Source: Chengshi Interactive · City Express
Editor of Shandong Commercial Daily · Subao News Network Zhang Lei
