继发皮肤鳞状细胞癌的IL-36Ra缺陷病一家系报告  

Mutation Analysis of IL36RN in A Chinese DITRA Family with Cutaneous Squamous Cell Carcinoma

作　　者：舒丹 晋红中 左亚刚[1] 闫言 

机构地区：[1]中国医学科学院、北京协和医学院、北京协和医院皮肤科,北京100730

出　　处：《中国皮肤性病学杂志》2014年第8期771-775,共5页The Chinese Journal of Dermatovenereology

基　　金：教育部博士点基金(20121106110047);卫生公益性行业科研专项经费项目(201002016)

摘　　要：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 DITRA family in which the proband developed cutaneous squamous cell carcinoma secondary to DITRA. Methods The blood samples of a Chinese DITRA family and 178 unrelated healthy controls were collected. All the exons and the flanking sequences of IL36RN were amplified by PCR and products analyzed by direct sequencing. Results Histopathological examination of the skin ulcer revealed epithelioid cells with atypia arranged in cords invasive growth of the dermis and mutation analysis of IL36RN revealed homozygous mutation c. 115 ＋ 6T 〉 C in the proband. Meanwhile, IL36RN mutation a- nalysis was performed in the unaffected family members and 178 healthy controls. All the unaffected fami- ly members and eight healthy controls carried heterozygous c. 115 ＋ 6T 〉 C mutation in IL36RN. Conclu- sion Homnzygous IL36RN c. 115 ＋ 6T 〉 C mutation may be the cause of DITRA and refractory and persistent pustular lesions may be the causes of secondary cutaneous squamous cell carcinoma in the proband.

关 键 词：DITRA IL36RN 基因突变 皮肤鳞状细胞癌 

分 类 号：R758.63[医药卫生—皮肤病学与性病学]