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Background <p>Rosai–Dorfman disease (RDD) is a rare non-Langerhans cell histiocytosis characterized by CD68+/S100+/CD1a– histiocytes exhibiting emperipolesis. It commonly presents with painless bilateral cervical lymphadenopathy, while extranodal involvement occurs in up to 43% of cases. Owing to its varied clinical and radiological features, RDD can closely mimic malignant and lymphoproliferative disorders, posing a significant diagnostic challenge.</p> Case Report <p>A 40-year-old woman presented with a progressively enlarging right cervical mass. Initial evaluation suggested metastatic squamous cell carcinoma. PET-CT demonstrated findings suspicious for a lymphoproliferative process. Excision biopsy revealed sinus histiocytosis with massive lymphadenopathy, and immunohistochemistry showed CD68 and S100 positivity with CD1a negativity, confirming RDD. No evidence of systemic malignancy was identified.</p> Conclusion <p>Nodal RDD may clinically and radiologically simulate metastatic disease. Histopathological examination with immunophenotyping remains essential for definitive diagnosis and appropriate management.</p>

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Rosai–Dorfman Disease Masquerading as Metastatic Carcinoma: Diagnostic Pitfalls in Cervical Lymphadenopathy

  • 期刊论文

  • 发表日期：

    2026年4月18日

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  • Ravisankar Palaniappan,
  • Padma Priya Camalarajan,
  • Kalaivani Selvi Subramanian,
  • Jayachandran Perumal Kalaiyarasi,
  • Haripriya Ragavan

摘要

Background

Rosai–Dorfman disease (RDD) is a rare non-Langerhans cell histiocytosis characterized by CD68+/S100+/CD1a– histiocytes exhibiting emperipolesis. It commonly presents with painless bilateral cervical lymphadenopathy, while extranodal involvement occurs in up to 43% of cases. Owing to its varied clinical and radiological features, RDD can closely mimic malignant and lymphoproliferative disorders, posing a significant diagnostic challenge.

Case Report

A 40-year-old woman presented with a progressively enlarging right cervical mass. Initial evaluation suggested metastatic squamous cell carcinoma. PET-CT demonstrated findings suspicious for a lymphoproliferative process. Excision biopsy revealed sinus histiocytosis with massive lymphadenopathy, and immunohistochemistry showed CD68 and S100 positivity with CD1a negativity, confirming RDD. No evidence of systemic malignancy was identified.

Conclusion

Nodal RDD may clinically and radiologically simulate metastatic disease. Histopathological examination with immunophenotyping remains essential for definitive diagnosis and appropriate management.