RDEB Is Main Suspect Behind SCC, a Rare Form of Skin Cancer, Study Shows

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by Diogo Pinto |

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RDEB likely leads to SCC

A recent study using technology that powers NantOmics‘ comprehensive GPS Cancer test confirmed that chronic inflammation caused by the inherited childhood skin disease recessive dystrophic epidermolysis bullosa (RDEB) can lead to a rare form of skin cancer known as squamous cell carcinoma (SCC).

The study, “APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa,” was published in the journal Science Translational Medicine.

NantOmics’ GPS Cancer test integrates different experimental techniques, including tumor DNA and RNA sequencing, as well as protein makeup characterization (quantitative proteomics), to help decipher the tumor’s molecular signature and to allow for the development of more efficient and personalized treatments.

Using NantOmics technology, the company’s researchers, along with those from the University of California San Francisco (UCSF) and Thomas Jefferson University in Philadelphia, studied the link between RDEB and SCC.

RDEB is a type of epidermolysis bullosa characterized by the scarring of healed wounds, leading to contraction of the joints and mouth membranes, fusion of the fingers and toes, and narrowing of the esophagus. In RDEB, the symptoms are more severe.

It is known that patients with the recessive form of the disease are at a higher risk of developing SCC, an aggressive skin cancer.

Now, through NantOmics’ technology, the new study confirmed this close association between RDEB and SCC.

The team analyzed 27 RDEB SCC tumors and found that inflammation from chronic skin injuries in RDEB patients can cause mutations and cancer in a similar way as prolonged exposure to the sun.

Interestingly, though, a higher number of mutations in a gene called APOBEC were found in RDEB SCC samples, compared to SCC caused by ultraviolet light (due to prolonged exposure to the sun) or tobacco smoke exposure.

“Our findings reveal a cause for cancers arising at sites of persistent inflammation and identify potential therapeutic avenues to treat RDEB SCC,” the researchers wrote.

Shahrooz Rabizadeh, PhD, the CEO at NantOmics, said in a press release that the study “adds more evidence to the idea that molecular profiling modernizes our view of cancer and underscores our need for new approaches to developing therapies.”

The GPS Cancer test is provided by NantHealth, a member of the NantWorks group, which is committed to advancing precision, personalized medicine and software technology to enhance patient care.