Katharina Buczek
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.
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