کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2155236 | 1090388 | 2015 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Hamartomatous polyposis in tuberous sclerosis complex: Case report and review of the literature
ترجمه فارسی عنوان
پولیپوز همارتوماتوز در مجموعه پیچیده سل ریوی: گزارش مورد و بررسی ادبیات
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
تحقیقات سرطان
چکیده انگلیسی
Tuberous sclerosis complex (TSC) is a genetic disorder with multisystem involvement that is due to autosomal-dominantly inherited or sporadic mutations in TSC1 and TSC2 genes. Involvement of the gastrointestinal tract is rare. We report the case of a 51-year-old woman with diagnosis of TSC established by genetic testing, who presented with colorectal hamartomatous polyposis. Multiple small polyps were found scattered through the left colon and rectum. Histology revealed a distinct spindle cell proliferation in the lamina propria, originating from the muscularis mucosae. The cells lacked atypia or mitotic activity and were diffusely positive for smooth muscle actin and negative for S100 protein. Genetic testing proved a disease causing frameshift mutation in the TSC1 gene. Although gastrointestinal involvement is rare in TSC, hamartomatous polyps can be the initial manifestation of this syndrome. Genetic testing should be considered in every case for which TSC is clinically suspected.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Pathology - Research and Practice - Volume 211, Issue 12, December 2015, Pages 1025-1029
Journal: Pathology - Research and Practice - Volume 211, Issue 12, December 2015, Pages 1025-1029
نویسندگان
Liliana Santos, Iva Brcic, Georg Unterweger, Robert Riddell, Cord Langner,