摘要
Papillary hidradenoma (a.k.a. hidradenoma papilliferum) is a benign tumor of the anogenital region that almost exclusively arises in middle-aged Caucasian women. These tumors may recur and rare cases of malignant development have been reported. The genetic basis of papillary hidradenoma is currently unknown. Hence, we employed targeted high-coverage next generation sequencing interrogating 50 cancer-related genes and conventional Sanger sequencing to investigate the mutational landscape in a cohort of 15 cases. Additionally, we analyzed the HPV status of these tumors. Thirteen cases (87%) harbored mutations in cancer-related genes. Recurrent mutations in PIK3CA and AKT1 were present in 10 of the cases (67%). One PIK3CA mutated case had a concomitant STK11 mutation. Three cases harbored mutually exclusive mutations in BRAF, APC and ERBB4. The remaining two cases showed no mutations. None of the cases harbored DNA of human papilloma virus. Our results also provide evidence that –just as BRAF V600E mutations in hyperplastic polyps and benign nevi- a mutated driver gene does not imply malignant behavior per se but may set the basis for malignant transformation. The latter point may explain why rare cases of papillary hidradenoma have been reported to take a malignant course. Lastly, our genetic data may suggest treatment avenues beyond conventional surgery for some of these tumors. © 2015 Wiley Periodicals, Inc. .overlined { text-decoration: overline; } .struck { text-decoration:line-through; } .underlined { text-decoration:underline; } .doubleUnderlined { text-decoration:underline;border-bottom:1px solid #000; } View Full Article with Supporting Information (HTML) Enhanced Article (HTML) Get PDF (303K)Get PDF (303K) More content like thisFind more content: like this articleFind more content written by: Nicole Pfarr Hans-Peter Sinn Frederick Klauschen Christa Flechtenmacher Michael Bockmayr Kathrin Ridinger Moritz von Winterfeld Arne Warth Katja Lorenz Jan Budczies Roland Penzel Jochen K. Lennerz Volker Endris Wilko Weichert Albrecht Stenzinger All Authors
摘要译文
乳头汗腺瘤（一竗竌汗腺瘤papilliferum）是一种几乎只出现在中年白人妇女肛门生殖器区域的良性肿瘤这些肿瘤可能复发和恶性发展的极少数情况下一直乳头汗腺瘤的reportedThe遗传基础是目前unknownHence，我们采用有针对性的高覆盖率的新一代测序询问50癌相关基因和传统的Sanger测序，调查的15例人群的突变景观此外，我们分析了窝藏在与癌症相关的基因突变genesRecurrent突变PIK3CA和AKT1这些tumorsThirteen例（87％25）的HPV状态的病例10人出席（67％25）一个PIK3CA突变的情况下有一个伴随STK11 mutationThree例BRAF，APC和ERBB4The怀有相互排斥的突变其余两例均未见突变的情况下，无窝藏人类乳头状瘤病毒的DNA的德证据表明鈥搄UST作为增生性息肉BRAF V600E突变和良性nevi-突变基因的驱动程序并不意味着恶性行为本身，而是可以针对恶性转化的基础后一点可以解释为什么乳头汗腺瘤罕见病例报告采取恶性courseLastly，我们的基因数据可能暗示，超越了传统的手术治疗的途径对于一些这些肿瘤漏威利2015年期刊，公司竜verlined {文字装饰：上划线; }击中{文字修饰：线通过; }竨nderlined {文本装饰：下划线; }竏oubleUnderlined {文本装饰：下划线;下边框：1px的固体＃000;写的：妮可Pfarr汉斯 - 彼得·辛恩弗雷德里克Klauschen克里斯塔Flechtenmacher迈克尔Bockmayr席Ridinger莫里茨·冯·阿恩Winterfeld瓦尔特卡佳洛伦茨月Budczies罗兰Penzel约亨·ķLennerz沃尔克·恩德里斯Wilko维切特阿尔布雷希Stenzinger所有的著者
Nicole Pfarr[1]; Hans-Peter Sinn[2]; Frederick Klauschen[3]; Christa Flechtenmacher[2]; Michael Bockmayr[3]; Kathrin Ridinger[2]; Moritz von Winterfeld[3]; Arne Warth[2]; Katja Lorenz[2]; Jan Budczies[3]; Roland Penzel[2]; Jochen K. Lennerz[4]; Volker Endris[2]; Wilko Weichert[1,2,5,6] and Albrecht Stenzinger[2,5,7,*];. Mutations in genes encoding PI3K-AKT and MAPK signaling define anogenital papillary hidradenoma[J]. Genes, Chromosomes and Cancer, 2016,55(2): 113-119