A 36-year-old Ms. Luo from Zhejiang
was diagnosed with anaplastic thyroid cancer just after giving birth to her second child.
Before that, 8 people in her family had already suffered from cancer!
My grandmother passed away early due to cancer, my father suffered from stomach cancer, kidney cancer, lung cancer, colon cancer, my 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 died of lung cancer...
A test revealed the "mystery"!
The mother of her second child was diagnosed with high-risk thyroid cancer
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 concern for the disease Sensitivity, she immediately went to the hospital for examination.
As expected, during further examination she was diagnosed with anaplastic thyroid cancer, which is an extremely dangerous type of thyroid cancer with poor prognosis.
Eight people in her family were diagnosed with cancer early in their youth.
During her treatment, she thought about one thing:
Her grandmother died of cancer early. Her father suffered from four types of cancer, her brother suffered from lymphoma, and two aunts suffered from breast cancer. An uncle has a history of liver cancer, a cousin is a lung cancer patient, and a cousin passed away from lung cancer...
"There are already 8 people in one family suffering from cancer, and they were all still young when they were diagnosed." This time, Ms. Luo still wanted to find out. Understand this "mystery" of the family.
Genetic testing found rare genetic disease
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 genetic testing on 18 members of Ms. Luo’s paternal family to investigate whether there were any chromosomal abnormalities. After a period of research, it was discovered through molecular pathology testing and interpretation:
Ms. Luo’s family suffers from a
rare autosomal dominant genetic disease
Li-Fraumeni syndrome
(Li-Fraumeni syndrome)
"It It is a rare hereditary tumor syndrome, mainly caused by germline mutations of the tumor suppressor gene TP53, which can lead to the occurrence of different cancers in multiple organs. People who carry this mutated gene have an increased risk of tumor development, and many of them occur at a young age. "
is a type of hereditary tumor
Li-Fraumeni syndrome is a type of hereditary tumor.
Professor Sudan introduced that hereditary tumors can occur in multiple organs and parts of the body. Common clinical hereditary breast cancer ovarian cancer syndrome, Lynch syndrome (the most common colorectal cancer, endometrial cancer susceptibility syndrome) all fall into this category. The diagnosis of hereditary tumors often requires genetic testing.
Generally, hereditary tumors have several characteristics:
Multiple members of different generations in the family develop the same or different types of tumors
Tumors occur at a young age, usually before the age of 50 or younger
The same patient suffers If you have multiple or bilateral tumors
, you should pay attention to this situation. You can do relevant tumor genetic counseling and genetic testing to analyze the causes of cancer in multiple family members, and strive to achieve early detection, early prevention, early diagnosis and early diagnosis. treat.
accounts for 5%-10%, and early detection has a better prognosis.
However, Professor Sudan also pointed out that generally the cancer patients we encounter are sporadic, and only 5-10% of tumors are hereditary tumors. As long as early detection is normal, The prognosis is better than that of sporadic tumors. For example, Ms. Luo's father has a history of gastric cancer, kidney cancer, lung cancer, and colon cancer. After treatment, he is now living in good condition.
Now, more than two years of treatment have passed, and 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.
It is worth mentioning that molecular pathology diagnosis played an important role in tracking the cause of Ms. Luo’s family disease. It is understood that in the modern era of precision medicine, molecular pathology is involved in the entire process of precise diagnosis and treatment of tumors, predicting tumor susceptibility and screening high-risk groups. In the early stages of the disease, molecular diagnosis is beneficial to pre-symptomatic diagnosis, and also plays an important role in subsequent molecular typing, drug companion diagnosis, prognosis prediction, and disease monitoring.
Source: Metropolis Express
Editor: Teng Lin
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