Neurosurgery notes/Tumours/Haematolymphoid and histiocytic tumours/Histiocytic tumour/Rosai-Dorfman disease

Rosai-Dorfman disease

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Histiocytic tumour

General

  • Rare disorder
  • Rosai-Dorfman disease of the Central Nervous System (CNS) or the meninges, with or without systemic lesions, pathologically corresponds to its counterparts occurring elsewhere.
  • It is a clonal histiocytic proliferation characterized by large S100-positive histiocytes with variable emperipolesis.
  • Characterized by proliferation and accumulation of a specific type of histiocyte in the lymph nodes of the body (lymphadenopathy),
    • Most often those of the neck (cervical lymphadenopathy)
  • An obsolete term is sinus histiocytosis with massive lymphadenopathy.

Definition

  • Essential:
    • A population of large histiocytes with round nuclei, vesicular chromatin, distinct nucleoli, and abundant pale cytoplasm.
    • Negativity for Langerhans cell markers (CD1a and/or CD207 [langerin]) and positivity for S100.
  • Desirable:
    • Emperipolesis.
    • Exclusion of reactive and demyelinating lesions.
    • Exclusion of other lines of differentiation (glial, epithelial, melanocytic, lymphocytic, meningothelial, etc.).
    • Nuclear cyclin D1 expression.
    • BRAF, MAP2K1, and KRAS or NRAS mutation status.
    • Potential systemic manifestations on imaging.

Numbers

  • Mean age: 40 years.
  • M:F ratio: 2:1.

WHO Grade

  • The disorder is classified as a histiocytosis of uncertain malignant potential

Localisation

  • Dural
    • Solitary or multiple dural masses
    • Common
      • Cerebral convexity
      • Cranial base
      • Cavernous sinuses
    • Rare
      • Parasagittal
      • Suprasellar
      • Petroclival regions
  • Parenchymal or intrasellar lesions may also occur

Histopathology Features

Macroscopic Features

  • Firm, vaguely lobulated, yellow to greyish-white dural mass.

Microscopic Features

  • The tumour occurs as a multinodular mass.
  • Multinodular mass composed of a mixed inflammatory infiltrate
    • Large pale histiocytes,
    • (n) lymphocytes
    • (n) plasma cells,
    • Variable fibrosis.
  • Tumour cells have round nuclei, vesicular chromatin, distinct nucleoli, and abundant pale cytoplasm.
Fig. 14.04 Rosai-Dorfman disease. A Multinodular mass composed of a mixed inflammatory infiltrate, including large pale histiocytes, numerous lymphocytes, and plasma cells. B Emperipolesis with histiocytic engulfment of intact lymphocytes, plasma cells, neutrophils, and eosinophils. C CD45 expression by phagocytosed haematopoietic cells.
Rosai-Dorfman disease. (A) Multinodular mass composed of a mixed inflammatory infiltrate, including large pale histiocytes, numerous lymphocytes, and plasma cells. (B) Emperipolesis with histiocytic engulfment of intact lymphocytes, plasma cells, neutrophils, and eosinophils. (C) CD45 expression by phagocytosed haematopoietic cells.
  • Emperipolesis with histiocytic engulfment of intact lymphocytes, plasma cells, neutrophils, and occasionally eosinophils is typical
  • Emperipolesis is not pathognomonic for Rosai-Dorfman disease and may occasionally be encountered in other neoplastic or non-neoplastic histiocytes and even in astrocytes.
  • Emperipolesis: a condition, wherein hematopoietic cells in living and intact state are seen in the cytoplasm of host cell without any damage
notion image
 

Immunophenotype Features

  • The neoplastic histiocytes are positive for CD11c, CD68, CD163, fascin, and S100.
  • They are variably positive for lysozyme.
  • They are negative for Langerhans cell markers (CD1a and CD207 [langerin]).
  • Expression of cyclin D1 (possibly reflecting MAPK activation) can be diagnostically useful, particularly because most cases are negative for BRAF p.V600E.

Pathogenesis

  • Two recent studies found BRAF p.V600E (in 12.5% of cases) and mutations in KRAS or NRAS (in 25% and 12.5% of cases, respectively).
  • Single cases with ARAF, MAP2K1, and CSF1R mutations have been reported.
  • The role of BRAF, MAP2K1, KRAS, and NRAS mutations in pathogenesis is currently unclear.

Clinical Features

  • Patients may exhibit signs of increased intracranial pressure or focal neurological deficits.
  • Patients with sellar lesions may present with signs of hypopituitarism and diabetes insipidus.
  • The classic systemic signs of cervical lymphadenopathy, fever, and weight loss are absent in 70% of patients, and 52% have no associated systemic disease.

Radiological Features

  • Resembles meningioma on imaging.
    • Differentiating factor: lower T2 signal in Rosai Dorfman disease may help to differentiate it from meningioma
  • On MRI, lesions are isointense or hypointense on T1-weighted images.
  • They show homogeneous contrast enhancement.
  • Hypointensity on T2-weighted images may assist in the differential diagnosis between Rosai-Dorfman disease and classic meningioma.
  • The appearance resembles meningioma.

Management

  • For resectable lesions, surgery is the first therapeutic option.
  • For non-resectable lesions, steroids, radiotherapy, and MAPK signalling pathway inhibitors may be considered.

Prognosis

  • The overall prognosis appears to be favourable in most cases.
  • Little is known about the long-term natural history of Rosai-Dorfman disease of the CNS.