February 26, 2024

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Why can this patient be cured repeatedly even suffered from 12 kinds of tumors?

Why can this patient be cured repeatedly even suffered from 12 kinds of tumors?


Why can this patient be cured repeatedly even suffered from 12 kinds of tumors?


Cancer is generally considered to be a disease of aging, that is, the risk of cancer increases with age , but many cancer patients are “prone to cancer” because of genetic defects , and the risk of cancer in this group of people will increase. greatly increase.

Here’s what you might not think: Some genetic mutations can lead to more than a dozen tumors in just a few decades.

Recently, a new study published in the journal Science Advances has dissected the mystery behind our susceptibility to cancer.

A woman has suffered from 12 types of cancer at the age of 36, 5 of which are malignant tumors! 

What is the reason behind this? And today, the woman is in a cancer-free state, what is the mystery behind it?

Why can this patient be cured repeatedly even suffered from 12 kinds of tumors?



Gene mutation that has never been seen, leading to high incidence of cancer


The woman reported in the study was born in 1986 to healthy, non-consanguineous parents. The woman’s developmental and psychomotor delays in the first few months of life were delayed, and what was even more alarming was her subsequent cancer history:

  • At 2 years of age, the woman was diagnosed with stage III embryonal rhabdomyosarcoma ;
  • In 2001, he was found to have enchondroma ; also in 2001, he was diagnosed with stage IB cervical clear cell carcinoma without HPV infection ;
  • In 2006, pleomorphic adenoma of the left parotid gland was diagnosed;
  • From 2006 to 2010, mammary lipoma , low-grade spindle cell tumor and pilomatrioma were diagnosed, and several dysplastic moles were removed ;
  • In 2010, multinodular thyroid tumor was diagnosed ;
  • In 2012, intramucosal adenocarcinoma was diagnosed, and rectal adenocarcinoma was resected 2 years later .

Before the age of 36, the woman was diagnosed with 12 tumors, 5 of which were malignant tumors.

This in the end is why?

The researchers analyzed the woman’s genome and found the culprit: a biallelic mutation in MAD1L1 — a genetic mutation never before seen in humans.

Why can this patient be cured repeatedly even suffered from 12 kinds of tumors?The study found that the woman had a biallelic mutation of MAD1L1 leading to loss of function.


The woman carried two mutated copies of a gene called MAD1L1 in her genome, one from her parents.

In normal cell division, the MAD1 protein encoded by the MAD1L1 gene can ensure that the DNA of the cell can be divided into two and enter the daughter cells smoothly after division, so as to ensure the normal operation of the cell.

When the experiments were performed in mice, the experimental mice died directly in the womb of their mothers when they carried a mutated copy of the MAD1L1 gene. Although the woman survived to adulthood, unfortunately: she acquired a “cancer-prone constitution”.


However, although the woman suffered from malignant tumors 5 times, she was cured each time she received treatment, and after the last tumor was removed in 2014, the woman has not grown a new tumor so far.


It may be due to luck to cure the malignant tumor once or twice. So many times to escape the claws of cancer, what is protecting her behind it?




Suffering from 12 kinds of tumors, why are they cured repeatedly?


To understand why the woman was cured repeatedly, the researchers sequenced as many as 33,604 peripheral blood mononuclear cells (PBMC) from the woman, her parents, and two other healthy donors. show:

Due to the abnormal number of chromosomes caused by the mutation of the female chromosome MAD1L1 gene, the body’s defensive immune response will be induced.

A variety of immune cells will induce inflammatory responses throughout the body, and at the same time enhance the innate immune response mediated by specific subsets of T cells and NK cells .

The immune response and the adaptive immune response make her own immune response stronger, so the patient’s prognosis is better after chemotherapy, radiation and surgery.


Why can this patient be cured repeatedly even suffered from 12 kinds of tumors?

Transcriptome analysis of peripheral blood cells with MAD1L1 biallelic mutations showed that a variety of immune cells in patients were changed compared with controls.


Although the biallelic mutation of MAD1L1 leads to unprecedented susceptibility to tumors, the mutation also upregulates the patient’s defensive immunity, allowing the immune system to exert an unusual inhibitory effect on tumor development, the researchers said.

Next, the researchers will further study the mechanism behind it, hoping to get inspiration from it to improve the effect of immunotherapy, so as to help other cancer patients fight cancer better.




These tumors are genetic!


We know that biallelic mutations in MAD1L1 lead to 12 cancers in the reported women at the age of 36, showing unprecedented tumor susceptibility.


In fact, most tumors are caused by somatic mutations, and the occurrence of tumors is sporadic; at the same time, about 5%-10% of tumors are caused by germline gene mutations, which are hereditary tumors.


Hereditary tumors often show familial clustering, that is, there are often multiple (such as 2 or more) primary tumors in the first-degree to third-degree relatives of the family, so they are called familial hereditary tumors. Familial hereditary tumors have unique pathogenesis and clinicopathological features.

Compared with sporadic tumors, familial hereditary tumors often have the characteristics of multiple family members, early age of onset, and high incidence. Individuals or family members suffer from other related diseases.

Cancer risk may also be increased. Therefore, the preventive intervention, early diagnosis and treatment strategies of familial hereditary tumors are different from those of sporadic tumors.

According to the latest data, there are about 4.57 million new cancer patients in China every year, of which about 5% to 10% are hereditary tumors. Familial hereditary tumors are caused by specific disease-causing gene mutations. Early detection and early intervention are the most effective ways to prevent and treat hereditary tumors.

1. Breast cancer

So far, studies have confirmed that more than 10 pathogenic germline mutations of susceptibility genes are associated with genetic susceptibility to breast cancer. Currently, BRCA1, BRCA2, TP53, and PALB2 are considered to be highly penetrant breast cancer susceptibility genes, and carrying mutations in these genes increases the risk of breast cancer by at least 5 times..


2. Ovarian cancer

Ovarian cancer is the gynecological malignancy with the highest mortality rate. 10% to 15% of ovarian cancer (including fallopian tube cancer and peritoneal cancer) is related to genetic factors. Hereditary ovarian cancer syndrome (HOCS) is a disease involving increased susceptibility to ovarian cancer. autosomal dominant syndrome. 

3. Stomach cancer

Gastric cancer is divided into sporadic gastric cancer, familial clustered gastric cancer (FGC) and hereditary gastric cancer (HGC). genetic predisposition.

Familial clustered gastric cancer refers to clustered gastric cancer in a family, which is often caused by common living environment, diet, or some accidental factors, and can also be caused by genetic factors. Therefore, the category of familial clustered gastric cancer should include familial hereditary gastric cancer.


Familial hereditary gastric cancer is an autosomal dominant genetic disease (or hereditary tumor syndrome), most of which have relatively clear pathogenic gene mutations that are inherited down the family line, mainly including three syndromes: hereditary diffuse gastric cancer (HDGC) , Gastric adenocarcinoma with multiple proximal polyps (GAPPS) and familial intestinal type gastric cancer (FIGC).

Familial hereditary gastric cancer also includes gastrointestinal genetic syndromes with gastric cancer as a secondary manifestation, such as Lynch syndrome, juvenile polyposis syndrome (JPS), polyposis jersey syndrome (PJS), familial adenomatous polyposis Familial hereditary colorectal cancer is the main manifestation of the above-mentioned syndromes, and there is a high risk of gastric cancer at the same time . (Recommended reading: Familial Inherited Tumor—Gastric Cancer)


4. Colorectal cancer

Colorectal cancer is usually sporadic, but familial clustering is also common. Among all bowel cancer patients , about 25% have a corresponding family history, and about 10% are clearly related to genetic factors.

According to the clinical phenotype, it can be divided into two categories: nonpolyposis syndrome and polyposis syndrome. The former mainly refers to hereditary nonpolyposis colorectal cancer (Lynch syndrome), and the latter includes familial adenomatous polyposis (FAP), MutY human gene-associated polyposis (MAP), hamartoma polyposis syndrome, etc. (Recommended reading: Family Inherited Tumor—Colorectal Cancer)


5. Prostate cancer

Prostate cancer is a highly hereditary cancer, and it is estimated that about 40% to 50% of prostate cancer is related to genetic factors. Germline mutations in multiple DNA damage repair genes have been confirmed to be associated with genetic susceptibility to prostate cancer.


DNA damage repair genes represented by BRCA1 and BRCA2 are by far the best known prostate cancer susceptibility genes, other DNA damage repair genes such as ATM, PALB2, CHEK2 and mismatch repair genes (MLH1, MSH2, MSH6 and PMS2) It is also thought to be associated with an increased risk of prostate cancer.

Other genes that may be associated with hereditary prostate cancer include genes such as HOXB13. The above-mentioned germline mutations of susceptibility genes not only increase the risk of prostate cancer, but also make prostate cancer have unique clinicopathological phenotypes, such as early age of onset, familial clustering, strong aggressiveness, and poor prognosis.


6. Thyroid cancer

Thyroid cancer is the most common malignant tumor of the endocrine system. Familial hereditary thyroid cancers include hereditary medullary thyroid carcinoma (HMTC) and familial nonmedullary thyroid carcinoma (FNMTC). 


7. Kidney cancer

The incidence of renal cancer ranks third among genitourinary system tumors in China, second only to bladder cancer and prostate cancer, accounting for 2% to 3% of adult malignant tumors, and the incidence rate shows an increasing trend year by year.

2% to 4% of RCC patients are caused by germline mutations of susceptibility genes, characterized by early onset age, bilateral, high proportion of multifocal RCC, and a positive family history of RCC, known as familial hereditary RCC syndrome sign.


The currently discovered familial hereditary renal cancer syndromes and corresponding susceptibility genes include: VHL syndrome (VHL gene), tuberous sclerosis syndrome (TSC1/TSC2 gene), hereditary papillary renal carcinoma (MET gene), Hereditary leiomyoma and renal cell carcinoma syndrome (FH gene), Birt-Hogg-Dubé syndrome (FLCN gene), familial clear cell carcinoma due to chromosome 3 translocation, BAP1 cancer syndrome (BAP1 gene), Cowden Syndrome (PTEN gene), succinate dehydrogenase deficiency renal cancer (SDH gene), etc. 


The above are 7 common familial genetic tumors. Through early screening, detection and prevention of these gene mutation groups, relevant health intervention and medical management can effectively reduce the risk of cancer in this group of people.








Villarroya-Beltri C, Osorio A, Torres-Ruiz R, et al. Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility. Sci Adv. 2022 Nov 4;8(44):eabq5914. doi: 10.1126/sciadv .abq5914. Epub 2022 Nov 2. PMID: 36322655; PMCID: PMC9629740.
Woman diagnosed with 12 tumors in her lifetime has a never-before-seen genetic mutation. https://www.livescience.com/woman-with-genetic-mutation-tumor-prone

Why can this patient be cured repeatedly even suffered from 12 kinds of tumors?

(source:internet, reference only)

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