دورية أكاديمية
[Analysis of gene mutation in a family with Muir-Torre syndrome accompanied with extraorbital cystic sebaceous carcinoma].
| العنوان: | [Analysis of gene mutation in a family with Muir-Torre syndrome accompanied with extraorbital cystic sebaceous carcinoma]. |
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| المؤلفون: | Zou ZJ; The School of Clinical Medicine, Fujian Medical University, Fuzhou 350122, China Department of Dermatology, Zhongshan Hospital of Xiamen University, Xiamen 361004, China., Hong SF; The School of Clinical Medicine, Fujian Medical University, Fuzhou 350122, China Department of Dermatology, Zhongshan Hospital of Xiamen University, Xiamen 361004, China., Zhang ZH; The School of Clinical Medicine, Fujian Medical University, Fuzhou 350122, China Department of Dermatology, Zhongshan Hospital of Xiamen University, Xiamen 361004, China., Lin SQ; Department of Dermatology, Zhongshan Hospital of Xiamen University, Xiamen 361004, China School of Medicine, Xiamen University, Xiamen 361002, China., Zeng LY; Department of Dermatology, Zhongshan Hospital of Xiamen University, Xiamen 361004, China., Jiang XY; The School of Clinical Medicine, Fujian Medical University, Fuzhou 350122, China Department of Dermatology, Zhongshan Hospital of Xiamen University, Xiamen 361004, China., Chen BL; Department of Dermatology, Zhongshan Hospital of Xiamen University, Xiamen 361004, China., Ren J; The School of Clinical Medicine, Fujian Medical University, Fuzhou 350122, China Department of Dermatology, Zhongshan Hospital of Xiamen University, Xiamen 361004, China. |
| المصدر: | Zhonghua yi xue za zhi [Zhonghua Yi Xue Za Zhi] 2024 Aug 27; Vol. 104 (33), pp. 3154-3157. |
| نوع المنشور: | English Abstract; Journal Article |
| اللغة: | Chinese |
| بيانات الدورية: | Publisher: Zhonghua yi xue hui Country of Publication: China NLM ID: 7511141 Publication Model: Print Cited Medium: Print ISSN: 0376-2491 (Print) Linking ISSN: 03762491 NLM ISO Abbreviation: Zhonghua Yi Xue Za Zhi Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Beijing : Zhonghua yi xue hui Original Publication: Beijing : Zhonghua yi xue hui. |
| مواضيع طبية MeSH: | Adenocarcinoma, Sebaceous*/genetics , Muir-Torre Syndrome*/genetics , MutL Protein Homolog 1*/genetics , Sebaceous Gland Neoplasms*/genetics, Female ; Humans ; Male ; Middle Aged ; Exome Sequencing ; Exons ; Mutation ; Pedigree |
| مستخلص: | This study reported a family of MLH1 mutation-induced Muir-Torre syndrome (MTS) and evaluated it's clinical and genetic characteristics. A 51 year-old patient with extraorbital cystic sebaceous and colon adenocarcinoma diagnosed in November 2021 in Zhongshan Hospital of Xiamen University was included. The clinical data of the family were collected and a pedigree chart was drawn, which was in line with the Chinese Lynch syndrome diagnostic criteria and was a typical MTS family. NM_000249.4:c.298C>T(p.R100*) of MLH1 gene in exon 3 was detected by whole exome sequencing and multiplex ligation dependent amplification, which is a pathogenic mutation. After the pathogenic mutation was identified, Sanger sequencing was performed on 4 direct members of the family for MLH1 gene, and 3 family members were found to have detected the mutation and included in MTS risk control. Until December 25 2023, follow-up showed the proband patients were not suffered from recurrence or new occurrence of skin or gastrointestinal tumors. The study reported a typical MTS family and found a possible pathogenic nonsense mutation in the MLH1 gene, which provides new evidence for the pathogenicity of this mutation. |
| معلومات مُعتمدة: | 82203957 Natural Science Foundation of China; 3502Z20214ZD1039 Science and Technology Project of Xiamen |
| فهرسة مساهمة: | Local Abstract: [Publisher, Chinese] 本研究报道1例MLH1基因突变致Muir-Torre综合征（MTS）患者家系，并分析该家系的临床和致病基因特点。纳入2021年11月在厦门大学附属中山医院确诊的1例51岁眶外囊性皮脂腺癌合并结肠腺癌患者，收集该家系成员的临床资料并绘制家系图，符合中国人Lynch综合征诊断标准，为典型的MTS家系。通过全外显子组测序法、多重探针连接扩增技术等方法检测到先证者MLH1基因位于3号外显子的NM_000249.4：c.298C>T（p.R100*）突变，为致病突变。明确致病突变后，针对MLH1基因对家系中4名直系成员进行Sanger测序验证，发现3名家系成员检测到该突变并将其纳入MTS风险管控。对先证者随访至2023年12月25日，未见皮肤及胃肠道肿瘤复发及新发。本研究报道了一个典型的MTS家系，发现了MLH1基因可能致病的无义突变，为该突变的致病性提供了新的依据。. |
| المشرفين على المادة: | 0 (MLH1 protein, human) EC 3.6.1.3 (MutL Protein Homolog 1) |
| تواريخ الأحداث: | Date Created: 20240821 Date Completed: 20240821 Latest Revision: 20240821 |
| رمز التحديث: | 20240822 |
| DOI: | 10.3760/cma.j.cn112137-20240702-01481 |
| PMID: | 39168847 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 0376-2491 |
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| DOI: | 10.3760/cma.j.cn112137-20240702-01481 |