Spanish Scientists Found A Strange Case Of A Woman Experiencing 12 Different Types Of Tumor
Update: 2022-11-04 20:15 IST
Spanish Scientists Found A Strange Case Of A Woman Experiencing 12 Different Types Of Tumor (Getty Images)
Spanish researchers looked at a peculiar instance of a lady who had 12 distinct types of tumours before the age of 36 in an effort to determine why she was so prone to the disease. At the age of two, the 36-year-old woman began receiving cancer treatment. She received a cervical cancer diagnosis when she was 15 years old.
A salivary gland tumour had surgical removal when she was 20. She underwent another surgery to remove a low-grade sarcom a year later, and when she entered her 20s and 30s, numerous more tumours were identified.
She has had 12 tumours in total, five of which were cancerous.An international study team, coordinated by the Spanish National Cancer Research Center, obtained blood samples with the woman's and her family's consent and utilised single-cell DNA sequencing to look at the genetic changes inside thousands of individual cells.
The researchers made an odd discovery: this individual had a rare mutation that increased her risk of developing cancer. Her MAD1L1 gene showed a mutation in both copies, which is unusual in humans.
Before a cell divides, a crucial piece of machinery called MAD1L1 aids in chromosome alignment. Prior research suggested that MAD1L1 may be involved in tumour suppression.
Gene mutations are not uncommon; in fact, several members of the woman's family have one. But this is the first time that this specific alteration has been discovered in both copies of the gene. It is extremely unusual to find a twofold (or homozygous) MAD1L1 gene mutation in humans because it is fatal to mice embryos.
The mutation in this individual was disrupting cell replication and resulting in cells with a mismatch in chromosome numbers. Her blood cells exhibited an abnormally high percentage of chromosomes in about 30–40% of them.
Every cell in the human body contains 23 pairs of chromosomes in the nucleus. When a cell is poised to go through mitosis or cell replication, chromosomes, which are condensed packets of DNA, take on the shape of a 'X'.
One chromosome is inherited from the mother and the other from the father for each pair.People who have mosaic variegated aneuploidy (MVA), an uncommon disorder, have varied numbers of chromosomes in different cells, similar to a mosaic of variously coloured tiles. Numerous genetic alterations, including the one found in the woman with 12 tumours, can lead to this illness.
Developmental delay, intellectual incapacity, microcephal, and other congenital problems are frequently present in people born with MVA. They frequently have a cancer risk factor.
Furthermore, according to the study, those who have aneuploidy, like the case study's subject, have a "enhanced immune response" that "may present new prospects for the clinical care of these individuals."
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