KRAS 117N positive Rosai‐Dorfman disease with atypical features

Rosai‐Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare disease typically characterized by a histiocytic proliferation within lymph nodes, which is due to an unknown etiology. Extranodal involvement can occur, and it more rarely can involve the skin. RD...

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Bibliographic Details
Published in:Journal of cutaneous pathology 2021-01, Vol.48 (1), p.147-150
Main Authors: Jafri, Zainab A., Reddy, Shivani P., Cassarino, David S.
Format: Article
Language:English
Subjects:
Abdominal wall
aggressive
atypical features
Emperipolesis
Etiology
Histiocytosis
immunohistochemistry
Immunotherapy
K-Ras protein
KRAS
Lymph nodes
Lymphadenopathy
MEK inhibitors
Mutation
Prostate cancer
Rare diseases
Rosai‐Dorfman disease
Sinus histiocytosis
Young adults
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Summary:Rosai‐Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare disease typically characterized by a histiocytic proliferation within lymph nodes, which is due to an unknown etiology. Extranodal involvement can occur, and it more rarely can involve the skin. RDD generally presents with an indolent nature and follows a benign disease course, although more aggressive cases have been reported. The condition predominately affects children and young adults. It is classically characterized by massive, bilateral painless lymphadenopathy and accumulation of CD68‐positive, S100‐positive, CD1a‐negative histiocytes, with the presence of emperipolesis as a hallmark. Herein, we present an aggressive case in a 76‐year‐old male with past medical history significant for prostate cancer, who presented with a 7‐month history of lymphadenopathy and new onset of multiple large abdominal wall, cutaneous, lymph node, liver, and lung masses, all of which were histopathologically atypical, but showed features consistent with RDD, including emperipolesis and strong S100 positivity. Molecular studies showed a KRAS 117N mutation, which has been recently reported in RDD. While most cases present as a benign tumor, this case demonstrated aggressive features clinically, showed partial response to MEK inhibitor immunotherapy in the setting of a KRAS mutation, and demonstrated atypical cytologic features on histopathology.
ISSN:0303-6987
1600-0560
DOI:10.1111/cup.13883