New record! 12 tumors in 26 years were cured

　　What is the probability of a person suffering from cancer in his lifetime? What is the probability of suffering from 12 kinds of tumors successively in 26 years? This question, which sounds beyond medical knowledge, is actually a woman’s personal experience. She has been diagnosed with 12 kinds of tumors since she was born, but she has escaped from the shadow of death again and again and is still alive today.
　　What is the probability of a person suffering from cancer in his lifetime? What is the probability of suffering from 12 kinds of tumors successively in 26 years? This question, which sounds beyond medical knowledge, is actually a woman’s personal experience. She has been diagnosed with 12 kinds of tumors since she was born, but she has escaped from the shadow of death again and again and is still alive today.
　　In 26 years, 12 kinds of tumors followed.
　　 W (patient’s pseudonym), born in 1986. At birth, she was slightly below average in weight and length, and also showed signs of growth retardation and psychomotor retardation during the neonatal period. But as W grew up, those problems faded away, and W seemed to thrive like a normal kid.
　　 However, when W was two years old, she was diagnosed with embryonal rhabdomyosarcoma of the external auditory canal. This is a malignant tumor arising from the embryonic mesenchymal tissue. Fortunately, after several courses of radiotherapy and chemotherapy, W’s tumor was successfully cured, but at the same time she also experienced growth delay, and she started to use growth hormone therapy.
　　 At the age of 15, W’s femur, humerus, and ulna were successively detected with enchondromas. This is a benign tumor that grows indolently and can be successfully controlled with conservative treatment. But not long after, W was diagnosed with early stage cervical clear cell carcinoma. Strangely, the main pathogenic factor of cervical clear cell carcinoma is that the mother took diethylstilbestrol during the fetal period or the patient was infected with HPV, but W’s mother never took diethylstilbestrol, and follow-up examination confirmed that W was not infected with HPV either. This means that W’s early cervical clear cell carcinoma may be driven by some unknown factors. So, after a hysterectomy, bilateral appendages, and radiation therapy, W once again beat cancer.
　　 At the age of 20, W was diagnosed with pleomorphic adenoma of the parotid gland, a benign tumor with a strong tendency to become malignant, and she had to undergo another operation. One year later, the examination revealed that spindle cell sarcoma appeared successively in W’s left parotid gland and left mastoid. She underwent surgery again and defeated the cancer for the third time. In the next 4 years, W successively underwent surgery for atypical nevus, mammary lipoma, pilomatrioma, and multinodular goiter. Fortunately, these tumors were all benign, and the risk of recurrence after resection was not high.
　　 At the age of 26, W underwent resection for adenoma of the colon, and the doctor found intramucosal adenocarcinoma in the adenoma of the colon. This is the fourth time W has suffered from cancer. At the age of 28, doctors removed an adenocarcinoma from W’s rectum, and then removed a tubular adenoma under a colonoscope.
　　 So far, W has undergone at least 10 operations and multiple rounds of radiation and chemotherapy. Fortunately, she has never suffered from new tumors since then, and the previous tumors have not recurred.
　　Carpet search to find out
　　 why the culprit W suffered from 12 types of tumors? And how did they escape from death again and again? The Spanish National Cancer Research Center has conducted an in-depth study on this.
　　 The researchers first performed a comprehensive physical examination for W. It was found that W had a relatively serious developmental delay, and her height was only 146cm. She had narrow bitemporal bones, deep-set eyes, midface hypoplasia, micrognathia, low-set and receding ears, nystagmus… Clearly, she had many abnormalities in her appearance.
　　 Meanwhile, W’s skin had extensive areas of hyperpigmentation and depigmentation, café-au-lait spots (a hyperpigmented lesion of the skin that is one of the cutaneous manifestations of multiple genetic disorders) and hyperkeratotic plaques. Combining these features, the researchers suspect that W has some sort of hereditary cancer syndrome.
　　 Soon, the researchers found in whole-genome sequencing that the biallelic mutations Q66* and E628* of mitotic arrest defect 1-like protein 1 (MAD1L1) were detected in W’s blood samples, and these two termination mutations lead to intracellular Defects in the synthesis of mitotic arrester-defective protein 1 (MAD1) lead to a large number, but not all, of aneuploid cells in the human body, a phenomenon known as mosaic aneuploidy.
　　 Aneuploid cells are prone to mutations of oncogenes or tumor suppressor genes due to their unstable chromosomal structure, leading to tumorigenesis. The reason why W frequently suffers from cancer seems to be found.
　　Whether her survival could be reproduced by narrow escape The
　　 researchers further conducted sequencing and medical history investigations on W’s family members, and found that there were members suffering from diseases such as cancer or unexplained miscarriage in both maternal and paternal families.
　　 By analyzing the karyotypes of peripheral blood mononuclear cells (PBMCs) of W and his parents, the researchers found that 0.7% of W’s father’s PBMCs were aneuploid cells, and 1.5% of W’s mother’s PBMCs were aneuploid cells. euploid cells, and in W, this number was as high as 39%.
　　 The biallelic mutation and the abnormally high proportion of aneuploid cells made W’s somatic cells full of aneuploid cells, like “unexpected time bombs”, which led to the frequent occurrence of tumors.
　　 So, what is the reason why W was able to escape from cancer repeatedly?
　　 Upon further analysis of W’s PBMCs, the researchers found that mosaic aneuploidy (MVA) played both positive and negative roles in W’s tumorigenesis. In other words, the “culprit” who caused W to suffer from cancer is also her “savior” to a certain extent.
　　 The strong inflammatory response induced by MVA in the human body seems to explain the different manifestations of different members of the W family. For example, MAD1L1 mutation carriers in W’s family members developed autoimmune diseases and spontaneous abortions, which are related to the overactivity of the immune system. W suffered from malignant tumors many times, some of which (such as the previously removed rectal cancer lesions) have entered the middle and advanced stages, but the treatment for malignant tumors has shown miraculous effects on W, allowing her to maintain a tumor-free state after the age of 28 , which is also closely related to her immune system, which is constantly active in attacking abnormal cells.
　　 As of the publication of the study, W’s body remains healthy, and W’s experience can also bring new hope to more cancer patients.