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Soo Park, MD
Soo Park, MD
Posted: Tuesday, September 24, 2024
Patients with recessive dystrophic epidermolysis bullosa—a rare hereditary skin disease characterized by skin and mucosa fragility—are predisposed to developing cutaneous squamous cell carcinoma. In the SIMOCEB study, Matthias Titeux, PhD, of the Université Paris Cité, and colleagues described two distinct clinical outcomes in a population with both conditions. Their findings, which were published in the journal Cancers, suggested that a modified form of histone H3 may be a putative marker of the more unfavorable prognosis.
“In addition, albeit with limitations due to the sample size investigated, our study suggests that neutrophil extracellular traps are potential therapeutic targets to decrease the risk of local recurrence or metastasis in patients with recessive dystrophic epidermolysis bullosa and squamous cell carcinoma,” the investigators commented.
The investigators conducted several laboratory experiments to characterize the immune profiles of 38 squamous cell carcinomas from 20 patients with recessive dystrophic epidermolysis bullosa and compare them with clinical, histopathologic, and prognostic features. Five patients with severe recessive dystrophic epidermolysis bullosa who developed high-risk primary squamous cell carcinoma experienced early recurrence or metastasis. In contrast, 15 patients developed low-risk primary squamous cell carcinomas without aggressive criteria.
High-risk primary squamous cell carcinomas were found to have a higher neutrophil-to-lymphocyte ratio in the tumor microenvironment and an increased proportion of neutrophil extracellular traps (a network of extracellular strings of DNA that bind pathogenic microbes). Citrullinated histone H3, a marker of neutrophil extracellular traps, appeared to be increased in the serum of patients with high-risk primary squamous cell carcinomas; thus, according to the investigators, it may serve as a potential blood marker of unfavorable prognosis.
“Further studies with larger case series are needed to validate the relevance of the biomarker citrullinated histone H3 in the prognosis and management of patients with recessive dystrophic epidermolysis bullosa and squamous cell carcinoma,” the investigators concluded.
Disclosure: Dr. Titeux reported no conflicts of interest. For full disclosures of the other study authors, visit mdpi.com.
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