Remarkable Case Study Of A Patient Who Survived 12 Distinct Tumors Could Pave The Way For Earlier Cancer Diagnosis And New Immunotherapies
A new exceptional cancer case study has been published in the medical journal Science Advances.
And according to Marcos Malumbres, leader of the Cell Division and Cancer Group at the Spanish National Cancer Research Center (CNIO), the case’s unique circumstances could provide scientists with two remarkable advancements.
First, the ability to detect cells with the potential to form tumors “well in advance” of typical diagnostic imaging and clinical tests. Second, a novel method for stimulating the immune system’s response to cancer.
The case study focuses on an individual who developed their first tumor as a baby. Then, every few years, additional tumors followed.
So by the time the patient was less than 40 years old, they had developed 12 tumors– with at least five of them being malignant.
Even rarer, each tumor was different from the others and was located on different parts of the body. On top of that, the patient exhibited other alterations, such as microcephaly and skin spots.
“We still don’t understand how this individual could have developed during the embryonic stage, nor could have overcome all these pathologies,” Malumbres revealed.
After the patient first went into CNIO’s Familial Cancer Clinical Unit, the medical team drew a blood sample in order to sequence the genes that are most frequently related to hereditary cancer. However, no alterations were detected among those genes.
In turn, the researchers then went on to analyze the patient’s entire genome in search of any alterations, and they ultimately found mutations in a gene known as MAD1L1– which is a critical part of the cell division and proliferation process.
luismolinero – stock.adobe.com – illustrative purposes only, not the actual person
The effect of these mutations was also analyzed, and it was found that the alterations impact the number of chromosomes within cells.
Now, in animal models, it has been shown that when there are mutations in two copies of this gene– with one coming from each parent– the embryo ultimately dies.
Remarkably, though, the patient in this case study survived despite having mutations in both parental copies. Moreover, the individual lived a life that was as normal as possible while suffering from health problems.
This case is a first of its kind, and Miguel Urioste– the study’s co-author– detailed its significance.
“Academically, we cannot speak of a new syndrome because it is the description of a single case, but biologically it is,” he said.
Urioste did point out that there are cases of other genetic mutations in which the number of chromosomes within cells is altered.
“But this case is different because of the aggressiveness, the percentage of aberrations it produces, and the extreme susceptibility to a large number of different tumors,” he added.
And one of the most intriguing facts of this case pertains to the disappearance of cancer. More specifically, the patient developed five commonly aggressive cancers, but they actually vanished relatively easily.
The researchers hypothesized that the repeated production of altered cells generated a chronic and defensive-like response in the patient’s body.
“And that helps the tumors to disappear. We think that boosting the immune response of other patients would help them to halt tumoural development,” explained Malumbres.
This discovery alone– that the body’s immune system is able to unleash a powerful defensive response to fight against cells containing the wrong number of chromosomes– is groundbreaking.
After all, 70% of all human tumors have cells that contain an abnormal chromosomal number, and this finding could help pave the way for new therapeutic options.
Additionally, the scientists utilized single-cell analysis techniques to study the patient and their related family members. This technique involves the analysis of each blood cell’s genes separately and allows the team to understand what is occurring in each distinct cell as well as how these changes impact the patient.
This analysis ultimately revealed that the patient’s blood sample had hundreds of chromosomal-identical lymphocytes. In other words, they all came from one single cell that rapidly proliferated.
Lymphocytes are cells that defend the body by attacking distinct invaders. But sometimes, lymphocytes can proliferate too much, and their spread actually forms a tumor.
So, in witnessing this process in the patient, the researchers ultimately captured the earliest stage of cancer formation.
This second finding is also monumental, and the researchers suggest that similar single-cell analysis techniques could be used to identify cells with tumor-forming potential well before any clinical symptoms appear or biomarkers are observable within analytical tests.
To read the study’s completed findings in Science Advances, visit the link here.
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