Case Presentation - Winter, 2008

Rosai-Dorfman Disease (RDD)
ThinPrep® non-gyn cytology, Cellient® cell block

NOTE: The diagnosis and analysis for this case study were provided by an independent physician. All conclusions and opinions are those of the physician and not Hologic, Inc.

History: 66 year old male

Specimen type: Left Submandibular FNA

Cytologic diagnosis: Abnormal. Lymphohistiocytic Proliferation.

Cytologic description:
The aspirate contains a mixed population of lymphocytes and plasma cells. Numerous epithelioid histiocytes and multinucleate giant cells contain phagocytosed lymphocytes and plasma cells (lymphophagocytosis/emperipolesis). This is a characteristic finding in sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease). No significant eosinophilic infiltrate is seen. Clinical correlation is recommended. If suspicious for malignancy, excision biopsy for definitive diagnosis should be considered.

Biopsy diagnosis: Excisional biopsy - Consistent with Rosai-Dorfman disease.

Case provided by: Palo Alto Medical Foundation, Palo Alto, California

Rosai-Dorfman Disease

Signs and symptoms:
Rosai-Dorfman Disease (RDD) is a very rare condition that mainly affects children but is not limited to that population. It commonly presents as painless, bilateral cervical lymph node enlargement. It can mimic lymphoma in the clinical setting with the additional presence of fever, night sweats, joint pain and weight loss. In up to 25% of the patients, extra nodal sites are involved including central nervous system, eyes, upper respiratory tract and the skin.

The fine needle aspiration of RDD is typically very cellular and consists predominantly of lymphocytes and histiocytes. The majority of lymphocytes are small. Also present in smaller numbers are transformed lymphocytes, plasmacytoid lymphocytes and immunoblasts. The histiocytes are phagocytic and can be quite large. They have pale nuclei and nucleoli with abundant vacuolated cytoplasm. Emperipolesis by the histiocytes of the lymphocytes is a tell tale finding of RDD.

Differential Diagnosis:
  • Although Langerhans Cell Histiocytosis (LCH) is rarely seen in lymph nodes, the histiocytes exhibiting lymphophagocytosis in RDD can be confused with this disease. With LCH there will be no engulfed lymphocytes and there will be an increase in eosinophils. Nucleoli are absent and the nuclei will have contoured and reniform shapes. Birbeck granules can be seen with ultra microscopy. Unlike RDD, the cells of LCH are CD1a positive.
  • To distinguish between RDD and lymphohistiocytic aggregates of a reactive lymph node, it is important to differentiate true engulfment by the histiocytes. The lymphocytes will overlie the histiocytes in a reactive lymph node. Unlike RDD, the cells of a reactive lymphoid hyperplasia are S-100 negative.
  • Fungal infections can also present with an increased histiocytic or lymphocytic population and fungal stains can be performed to rule out a fungal infection.
Frequently there is spontaneous regression but RDD can be treated with surgical excision.

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