Rosai-Dorfman Disease of the Rectum: Newly Identified Genetic Point Mutations and Robotic Resection

Document Type

Journal Article

Publication Date

2-19-2022

Journal

The American surgeon

DOI

10.1177/00031348211069800

Keywords

Rosai-Dorfman disease; colorectal; robotic surgery; surgical pathology

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.

Department

Surgery

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