Spanish scientists found a case in Spain of a woman who had been diagnosed with 12 different types and was now unable to live. Cancer.
The 36-year old woman was first diagnosed with cancer at age two. She was diagnosed with cervical carcinoma at the age of 15.
A salivary gland tumour was removed at 20 years old. One year later, she underwent further surgery to remove a low grade sarcoma.
As she entered her 20s and 30s, many different types of cancer were discovered.
She has had 12 different tumors in her life, five of which were malignant.
An international team of researchers led by the Spanish National Cancer Research Center took blood samples and used single-cell DNA sequencing (single-cell DNA sequencing) to examine the genetic mutations in thousands of cells.
Researchers found something unusual: This woman was born with a unique mutation that makes her more vulnerable to developing cancers.
The mutation was found in both copies MAD1L1 of her gene. This is a rare condition in humans.
MAD1L1 is responsible for key machinery that aligns chromosomes prior to a cell’s division. MAD1L1 was previously suspected to play a role in suppressing cancers.
Mutations in the gene aren’t unknown – in fact, members of the woman’s family carried one. However, this is the first instance that both copies have this mutation.
A double or homozygous MAD1L1 gene mutation can be found embryos of mouse mice can be fatalIt is a remarkable find in humans.
This mutation caused the woman to become blind. cell replication dysfunctionBy creating different number of chromosomes in cells. A third to four-fifths of her blood cells showed an abnormal number or chromosomes.
23 pairs of human chromosomes reside within the nucleus each cell’s cells.
ChromosomesCondensed DNA packages that are in an ‘X” shape when a cell is about for mitosis, or cell replication.
Each pair of chromosomes is inherited from one parent and another from the father.
The rare condition of mosaic variegated aneuploidy (MVA) is characterized by a variety of chromosomes. It can be caused by a combination of different chromosomes, much like a mosaic of colored tiles. This condition can be caused by There are many genetic mutationsIncluding the one in the woman who has 12 cancers.
People born with MVA Many timesYou may also experience developmental delay or microcephaly, which is a condition where a child’s skull is smaller than normal, intellectual disability, and other congenital disorders. These conditions are common. Predisposed to developing cancer.
This case showed that the woman was not suffering from any intellectual disabilities. She also lived a normal life, considering the many rounds of cancer treatment she had had to endure.
“We are still unsure how this individual could possibly have developed during the embryonic stages, nor could they have overcame all these pathologies,” SaysMarcos Malumbres (a molecular biologist), was co-author and head of the Cell Division and Cancer Group, Spanish National Cancer Research Center.
The role of aneuploidy may be controversial. Not well understood in the fight against cancerWe do know this around 90% of tumorsExtra or missing chromosomes in cancer cells.
We know that aneuploidy can be associated with high levels of Even worse outcomesCancer.
The researchers found that patients with aneuploidy (such as the woman in this case study) have an “enhanced immuno response” that could provide “new opportunities for the clinical treatment of these patients”. Please say.
This paper was published in Science Advances.
