Rosai-Dorfman Disease of the Rectum: Newly Identified Genetic Point Mutations and Robotic Resection
| العنوان: | Rosai-Dorfman Disease of the Rectum: Newly Identified Genetic Point Mutations and Robotic Resection |
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| المؤلفون: | Jacob Lambdin, Joshua K. Phillips, Elias D. Kima, Edina Paal, Victor E. Nava, James Duncan |
| المصدر: | The American Surgeon. :000313482110698 |
| بيانات النشر: | SAGE Publications, 2022. |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | General Medicine |
| الوصف: | Rosai-Dorfman disease (RDD) is a rare disease characterized by histiocytic proliferation which typically presents as massive, painless, cervical lymphadenopathy in children or young adults. GI involvement is exceedingly rare with only 20 documented cases to date. Of those 20 cases, only 3 cases have involved the rectum. Here, we present 2 cases of rectal RDD with attention paid to the diagnostic and technical challenges presented by this disease. When presenting as a perirectal mass, RDD can be mistaken for other lesions to include malignancy, leading to surgical removal. We present a video of a robotic low-anterior resection with intracorporeal anastomosis in order to remove a pelvic mass involving the rectum, initially considered to be a stromal tumor. In addition, we describe a copy number variation in AKT and 3 point mutations detected by next generation sequencing, which had not been previously reported in association with this disease. |
| تدمد: | 1555-9823 0003-1348 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc3ce1c080d966f1b63377c35ac700e0 https://doi.org/10.1177/00031348211069800 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....fc3ce1c080d966f1b63377c35ac700e0 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15559823 00031348 |
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