For 36 years of life, the woman developed 12 tumors, and 5 of them were malignant. Despite this, she continues to live. Such an absolutely fantastic case was first described by Spanish physicians.
It seems incredible, and when you read this on the news, you immediately think of a fake. But in this case, the study was published in the serious scientific journal Science Advances.
The patient who surprises doctors
The first tumor developed in infancy, followed by another every few years. All of them were of different types and in different parts of the body.
But it turns out that it’s not just tumors. The woman was found to have serious mutations in a gene called MAD1L1. It is necessary for the division and reproduction (proliferation) of cells. Because of this mutation, the number of chromosomes in the cells changes – in total, a person has 46 chromosomes. So, it turned out that in the patient, approximately 30-40% of the blood cells were aneuploid – they contained more or less chromosomes.
In such cases, the fetus usually dies in the womb. “We still do not understand how this person could develop during pregnancy and was able to avoid severe congenital diseases,” says Marcos MalumbresHead of the Cellular Department and Oncology Group of the Spanish National Center for Cancer Research (CNIO).
Surprisingly, the woman lives a relatively normal life, given that she is in poor health. Scientists identify two main manifestations of the MAD1L1 mutation in her – systemic inflammation of the body and an unprecedented susceptibility to the development of tumors. This is the first such case described in the history of medicine.
History of life and disease
The woman was born in 1986 from healthy parents – the mother was 26 years old, the father – 30. The pregnancy proceeded normally, but the child had small congenital anomalies of the face and feet, age spots on the skin.
At the age of 2 years, an embryonic rhabdomyosarcoma of the ear canal was diagnosed. The tumor was at stage III, it was cured with the help of chemotherapy and radiation therapy. Due to this treatment, developmental delay occurred and growth hormone was prescribed. In 2001, enchondromatosis and so-called. stage IB clear cell carcinoma of the cervix. The uterus and appendages were removed. And in 2006, an adenoma of the left parotid gland (a benign tumor) was surgically removed. A year later, a low-grade parotid sarcoma was found and removed.
In the period 2006-2010. several more operations were performed for a number of benign tumors – dysplastic nevi (pigmented spots such as moles that can degenerate into cancer), breast lipomas and pilomatrixomas (a rare tumor arising from the hair matrix). In 2010, half of the thyroid gland was excised due to a multinodular goiter, the same operation was repeated in 2014. In 2012, a polyp and adenocarcinoma of the colon were removed, and 2 years later, a resection of the rectum, also due to adenocarcinoma. In 2014, another operation in this area due to tubular adenoma.
There is no bad without good
What intrigued the doctors most of all was the fact that the patient’s five aggressive types of cancer were cured relatively easily. To explain this phenomenon, Malumbres puts forward the following hypothesis: “The constant production of altered cells (having the wrong number of chromosomes – approx. ) caused a chronic defensive reaction against them, and this helps the tumors to disappear. We think that strengthening the immune response in other patients will also help them stop the development of tumors.” This opens up new therapeutic horizons for oncologists, because 70% of human tumors have cells with an abnormal number of chromosomes.
According to Marcos Malumbres, studying this medical case can also help create a way to detect such cells with tumor potential, long before the very first symptoms and markers of cancer, which doctors can already detect today. That is, the diagnosis of cancer can become much earlier than it is now. In fact, we are talking about the diagnosis of cancer in potency.