In one family, 8 people develop cancer.
When I was also diagnosed with undifferentiated thyroid cancer,
Ms. Zhu, a 36-year-old mother of second child, wanted to figure it out:
What happened to our family?
She went to the pathology department of Zhejiang Provincial Cancer Hospital and found the answer after a series of molecular pathological diagnoses.
"These 8 people are all suffering from a rare hereditary tumor syndrome, and we did detailed genetic testing for these patients to find the causative gene." In addition, 10 other immediate family members in the family also did the corresponding site tests and found several carriers of the disease-causing gene, which means that their risk of future patients is significantly increased. Professor Sultan, head of the pathology department of Zhejiang Provincial Cancer Hospital, said.
There are 8 cancer patients in the family
Father's history of stomach, kidney, lung, and colon cancer;
History of lymphoma in the brother;
History of breast cancer in both aunts;
A history of liver cancer from an uncle;
A cousin's history of lung cancer;
A cousin's history of lung cancer.
This is the case of cancer in Ms. Zhu's family.
She herself is an undifferentiated thyroid cancer.
After examining thyroid nodules on their own,
Ms. Zhu was uneasy,
Many relatives have found tumors,
This nodule of my own will not be a problem.
With the passage of time, Ms. Zhu's nodules are slowly enlarging, and she first came to Zhejiang Provincial Cancer Hospital to understand some medical knowledge, she not only wanted to diagnose her own disease, but also wanted to figure out the "mystery" of the family.
"We gave her a pathological test and it was clear that it was undifferentiated thyroid cancer, which is the most malignant of thyroid cancer." After a comprehensive assessment of Ms. Zhu's medical history and pedigree tumor history, Sudan has deduced that this family is most likely suffering from a rare genetic tumor syndrome - Li-Fraumeni syndrome (Lifameni syndrome), and detailed molecular pathological tests have proved her judgment, "This hereditary tumor syndrome is caused by pathogenic mutations in the TP53 gene germline, in addition to the detection of this mutation in the peripheral blood of 8 tumor patients, some carriers of the mutated gene have also been found in other direct relatives of the family. ”
Sudan explains that Li-Fraumeni syndrome caused by mutations in the TP53 gene is relatively rare in hereditary tumors, with an incidence rate of usually 1/20000, and it has some characteristics: patients with the disease are younger and can form tumor profiles with a variety of different systems.
Just like Ms. Zhu's father, he has suffered from 4 kinds of tumors and grown in different parts of the body.
Ms. Zhu's family was unfortunate to have collided with such a small probability of an incident, but there was some happiness in the misfortune that she found the root cause.
After figuring out the cause, the next step is treatment. In addition to the genetic testing of germline pathogenic mutations, a comprehensive molecular pathological test of Ms. Zhu's tumor tissue was also carried out, and the results predicted that Ms. Zhu would be sensitive to immune checkpoint inhibitor treatment.
Now, more than two years of treatment have passed, Ms. Zhu's condition tends to be stable, the tumor has not made new progress, she understands the ins and outs of the family medical history, and her mood is much calmer.
There are such patients in the family
You can go to the hospital for genetic diagnosis
Professor Sultan introduced: Hereditary tumors can occur in multiple organs and parts of the body, and the common clinical hereditary breast cancer ovarian cancer syndrome and Lynch syndrome (the most common colorectal cancer, endometrial cancer susceptibility syndrome) belong to this. The diagnosis of hereditary tumors often requires genetic testing to be clear.
Some time ago, a 30-year-old girl found Sudan, she has no physical problems, but the relatives around her have been diagnosed with tumors: her mother's lung cancer, her grandfather and uncle are both intestinal and stomach cancer, aunt breast cancer and bowel cancer.
"She was nervous and wondered if it was a genetic problem, so she wanted to find out." Sudan had genetic testing for her mother and aunt, which confirmed that it was a high-risk line for Lynch syndrome, and that both the girl's mother and aunt carried a mutation in the MSH2 germline, which, fortunately, the girl herself did not carry.
However, Sudan also said that although hereditary tumors look exaggerated, but neither patients nor patients need to panic, from a clinical point of view, more than 90% of tumors or sporadic tumors, it occurs accidentally in the family, the causative factors are complex, and it is more common in older patients.
Only when there are multiple tumor patients in the first-level relatives or second-degree relatives in the family, it can be considered that more professional hospitals do genetic counseling and genetic testing to rule out the possibility of hereditary tumors and family management.
After reading ms. Zhu's encounter
Many netizens said
▼
News+
A cruel fact:
Parents may pass on these 8 cancers to the next generation
According to The Health Times, at present, human beings do not fully understand the mechanism of cancer, the cause of many cancers is not clear, and there are more than 30 kinds of cancers that have been shown to have obvious genetic predispositions.
Luo Rongcheng, director of the Cancer Center of Southern Medical University and chief expert of the Department of Internal Medicine of Fuda Cancer Hospital Affiliated to Jinan University, introduced that the following 8 kinds are more common:
1. Breast cancer
Screening method - molybdenum and palladium examination
2. Ovarian cancer
Screening method - HE4 combined with CA125 test
3. Colorectal cancer
Screening method - colonoscopy
4. Stomach cancer
Screening method - gastroscopy + biopsy screening
5. Lung cancer
Screening method – low-dose spiral CT
6. Endometrial cancer
Screening method - B ultrasound examination
7. Pancreatic cancer
Screening method - ultrasound endoscopy
8. Prostate cancer
Screening method - PSA screening
Finally, Luo Rongcheng added that hereditary retinoblastoma, hereditary melanoma, hereditary multiple endocrine adenoma, and neuromuscular tumors are also common clinically. In addition, the concentrated occurrence of leukemia, brain tumors, bone tumors, etc. in the family also clearly indicates that hereditary cancers have occurred.
Heredity can only be determined by scientific means
Ordinary people can't see it
So
Regular inspections are necessary
Detect problems early
In order to avoid further deterioration
Sources | Qianjiang Evening News, Health Times, Netizen Comments, etc
Edited | Jessie