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目的报告一个先证者继发皮肤鳞状细胞癌的IL-36Ra缺陷病(DITRA)家系。方法收集该家系的临床资料和外周血标本,PCR方法扩增IL36RN全部外显子及其侧翼序列并测序。结果先证者小腿溃疡处组织病理示:溃疡形成,真皮内上皮条索呈浸润性生长,细胞异型;基因检测示:IL36RN c.115+6T>C纯合突变。同期检测了家系中未发病者以及178例健康对照者,发现家系中未发病者及8例健康者中发生了IL36RN c.115+6T>C杂合突变。结论 IL36RN c.115+6T>C纯合突变可能为该先证者DITRA的发病原因;先证者继发皮肤鳞状细胞癌可能与其溃疡病变长期不愈有关。
Objective To report a pedigree of IL-36Ra deficiency (DITRA) in a proband who had secondary squamous cell carcinoma of the skin. Methods The clinical data and peripheral blood samples of this pedigree were collected. All IL36RN exons and their flanking sequences were amplified by PCR and sequenced. Results of proband calf ulcer at the histopathological manifestations: ulceration, intradermal epithelial cords showed invasive growth, cell-shaped; gene test showed: IL36RN c.115 +6 T> C homozygous mutation. In the same period, a total of 178 healthy controls were tested in the pedigrees and no IL36RN c.115 + 6T> C heterozygous mutation was found in the non-pedigree and 8 healthy controls. Conclusion The homozygous mutation of IL36RN c.115 + 6T> C may be the etiological factor of DITRA. The secondary squamous cell carcinoma of proband may be related to the long-term unhealed ulcer lesion.