Recessive dystrophic epidermolysis bullosa (RDEB) is a rare severe hereditary skin disease characterized by skin and mucosa fragility, resulting in blister formation. The most severe complication in RDEB patients is the development of cutaneous squamous cell carcinoma (SCC), leading to premature death. There is a great deal of evidence suggesting a permissive tumor microenvironment (TME) as a driver of SCC development in RDEB patients. In a cohort of RDEB patients, we characterized the immune profiles of RDEB-SCCs and compared them with clinical, histopathological, and prognostic features. RDEB-SCCs were subdivided into four groups based on their occurrence (first onset or recurrences) and grading according to clinical, histopathological parameters of aggressiveness. Thirty-eight SCCs from 20 RDEB patients were analyzed. Five RDEB patients experienced an unfavorable course after the diagnosis of the first SCC, with early recurrence or metastasis, whereas 15 patients developed multiple SCCs without metastasis. High-risk primary RDEB-SCCs showed a higher neutrophil-to-lymphocyte ratio in the tumor microenvironment and an increased proportion of neutrophil extracellular traps (NETs). Additionally, citrullinated histone H3, a marker of NETs, was increased in the serum of RDEB patients with high-risk primary SCC, suggesting that this modified form of histone H3 may serve as a potential blood marker of unfavorable prognosis in RDEB-SCCs.
隐性营养不良型大疱性表皮松解症（RDEB）是一种罕见的严重遗传性皮肤病，其特征为皮肤和黏膜脆性增加，导致水疱形成。RDEB患者最严重的并发症是发生皮肤鳞状细胞癌（SCC），并导致过早死亡。大量证据表明，RDEB患者中允许性肿瘤微环境（TME）是驱动SCC发展的关键因素。在一组RDEB患者队列中，我们分析了RDEB-SCC的免疫特征，并将其与临床、组织病理学和预后特征进行比较。根据SCC的发生情况（首次发生或复发）以及基于临床和组织病理学侵袭性参数的分级，将RDEB-SCC分为四组。共分析了20例RDEB患者的38个SCC病灶。其中5例患者在首次诊断SCC后出现不良病程，表现为早期复发或转移，而15例患者发生多发性SCC但无转移。高危原发性RDEB-SCC在肿瘤微环境中表现出更高的中性粒细胞与淋巴细胞比率，以及中性粒细胞胞外陷阱（NETs）比例增加。此外，在高危原发性SCC的RDEB患者血清中，NETs标志物瓜氨酸化组蛋白H3水平升高，提示这种修饰形式的组蛋白H3可能作为RDEB-SCC不良预后的潜在血液标志物。
肿瘤(癌症)患者之家