کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
4130165 | 1606507 | 2010 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with analysis of von Hippel-Lindau gene and review
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
آسیبشناسی و فناوری پزشکی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Endolymphatic sac tumors (ELSTs) are very rare and locally aggressive low-grade neoplasm of endolymphatic system origin, which are associated with von Hippel-Lindau (VHL) disease. Evidence suggests that the specific VHL alteration influences the phenotype. Because of the rarity of ELSTs, only a small number of cases have been subjected to molecular genetic analysis. The correlation between ELSTs and the genotype of VHL remains unclear. Herein, we reported a case of ELST with VHL gene analysis who presented with a family history of VHL disease. The radiologic, histologic, and immunohistochemical features of the tumor were typical of ELST. Using the polymerase chain reaction-single-strand conformation polymorphism sequencing techniques, a germline mutation was identified as IVS1 + 1GâA at position 553 + 1. The mutation found in this case has not been previously reported in ELSTs. It is hoped that the study would contribute to a better understanding of ELSTs and the correlation between ELSTs and the genotype of VHL.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Annals of Diagnostic Pathology - Volume 14, Issue 5, October 2010, Pages 361-364
Journal: Annals of Diagnostic Pathology - Volume 14, Issue 5, October 2010, Pages 361-364
نویسندگان
Qiu MD, Jing MD, Jian-dong PhD, Xing-zao MD, Heng-hui MD, Zhen-feng MD, Xiao-jun MD, PhD,