کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4129752 1606476 2015 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Next-generation sequencing reveals rare genomic alterations in aggressive digital papillary adenocarcinoma
ترجمه فارسی عنوان
توالی نسل بعدی نشانگر تغییرات ژنتیکی نادر در آدنوکارسینومای پاپیلری دیجیتال تهاجمی است.
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی آسیب‌شناسی و فناوری پزشکی
چکیده انگلیسی

Aggressive digital papillary adenocarcinoma (ADPA) is a rare cutaneous adnexal neoplasm that occurs on the fingers, toes, palms, and soles. It is characterized by aggressive biological behavior, with a relatively high potential for local recurrence (30%-40% of cases) and distant metastasis (up to 14%). This retrospective study assessed the mutation status of ADPA lesions to identify possible therapeutic targets. We performed comprehensive genomic profiling of 9 ADPA cases that had been identified in our database. We identified a BRAF-V600E (BRAF c.1799T>A p.V600E) mutation in 1 patient (11%). Complete surgical excision is the treatment of choice for ADPA; however, there are no uniform diagnostic guidelines or recognized effective treatments for metastasis, and no therapeutic targets have been identified. Targeted therapy may be a treatment option for patients with metastatic ADPA if a relevant oncogene mutation is identified. Further studies with a larger sample size are required to confirm our findings and identify more molecular mechanisms.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Annals of Diagnostic Pathology - Volume 19, Issue 6, December 2015, Pages 381–384
نویسندگان
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