New study of The Cancer Genome Atlas (TCGA) has revealed new genomic alterations in cervical cancer. Moreover, some tumors didn't have HPV infection.
Cervical cancer is a cancer that arises from the cervix. It results from the uncontrolled growth of cells in the cervix. Cervical cancer typically has no early signs or symptoms, which contributes to the mortality of the devastating disease. It is estimated that the disease causes 250,000 deaths per year.
Most adults have been infected with HPV at some time. An infection may go away on its own, but sometimes it can cause genital warts and cervical cancer. More than 90% of all cervical cancer cases are associated with HPV infection. Persistent infection with oncogenic types of HPV is considered a major risk factor of cervical cancer. There are more than 200 types of the HPV virus. Not all of them cause cervical cancer. Two HPV types, 16 and 18, are responsible for about 70% of all cases.
There have already been powerful HPV vaccines that can provide long-term protection for women. In most Western countries, cervical cancer is highly preventable because screening tests and a vaccine to prevent HPV infections are available. Unfortunately, many women are beyond the recommended age for vaccination. The HPV vaccine is recommended for 11- to 12-year-olds. Generally, girls can get the vaccine through age 26, and boys can get the vaccine through age 21. So it is important to develop more effective therapies for cervical cancer.
The researchers carried out a comprehensive genomic study on 228 primary cervical cancers, and finally discovered a subset of eight cervical cancers that were similar to endometrial cancers. The eight cancer types were mostly HPV-negative, and had a high rate of mutations in the genes KRAS, ARID1A and PTEN. These findings supported the idea that some cervical tumors are not caused by HPV infection but by genetic or other factors.
The team also looked at the genes known to enhance responsiveness to immunotherapy, and discovered the amplifications of immune targets CD274/PD-L1 and PDCD1LG2/PD-L2. Furthermore, they identified an abnormality in the gene BCAR4. This gene normally induces responsiveness to a drug used in the treatment of breast cancer, Tykerb (lapatinib). So in this case, BCAR4 could be a target for novel therapies.
In developing countries, mortality of cervical cancer is higher due to limited access to vaccines and screening. Each year, over 500,000 people are diagnosed with the deadly disease, causing a lot of pain and suffering. This study, published in the prestigious journal Nature, may improve the treatment of some subsets of cervical cancers.
"We identified a unique set of endometrial-like cervical cancers, comprised predominantly of HPV-negative tumors with high frequencies of KRAS, ARID1A, and PTEN mutations," the researchers concluded. Cusabio offers proteins and antibodies.