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- Title
Rosai-Dorfman Disease of the Rectum: Newly Identified Genetic Point Mutations and Robotic Resection.
- Authors
Lambdin, Jacob; Phillips, Joshua K.; Kima, Elias D.; Paal, Edina; Nava, Victor E.; Duncan, James
- Abstract
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.
- Subjects
NON-langerhans-cell histiocytosis; RECTAL diseases; NUCLEOTIDE sequencing; GENETIC mutation; YOUNG adults; LYMPHADENITIS; RETICULUM cell sarcoma
- Publication
American Surgeon, 2023, Vol 89, Issue 6, p2897
- ISSN
0003-1348
- Publication type
Article
- DOI
10.1177/00031348211069800