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A Diagnostic Dilemma and Classification Conundrum: Atypical Histiocytic Neoplasm Presenting as a Calvarial Mass

Shabbir Haiderbhai1,2, Leesha Heitkamp2, Austin Nickell2

  • 1Internal Medicine, Sanford Health, Fargo, USA.

Cureus
|March 26, 2024
PubMed

Insights

This case study highlights an elderly woman with a rare skull lesion, an atypical histiocytic disorder. Genomic analysis suggested histiocytoma, but clinical features pointed towards Langerhans cell histiocytosis.

Area of Science:

  • Oncology
  • Dermatology
  • Pathology

Background:

  • Histiocytic disorders involve abnormal dendritic cell proliferation.
  • The Histiocyte Society classifies these into five groups: L, C, M, R, and H.
  • Accurate diagnosis is crucial for appropriate patient management.

Observation:

  • An elderly woman presented with a solitary skull lesion.
  • Histological and genomic analyses revealed mixed indicators.
  • Cyclin D1, CD68, S100, ZBTB46, OCT2, KRAS, and GPS2 mutations were identified.

Findings:

  • Genomic analysis favored histiocytoma due to KRAS mutation.
  • Clinical presentation and spontaneous resolution suggested Langerhans cell histiocytosis (LCH).
  • The patient's features did not align with established histiocytic disorder categories.

Implications:

  • This case represents an atypical histiocytic disorder.
  • It underscores the complexity in diagnosing histiocytic neoplasms.
  • Further research may refine classification and treatment strategies for rare histiocytic conditions.

Keywords:
atypical presentationindeterminate cell histiocytosislangerhans cell histiocytosis(lch)non-langerhans histiocytosisskull mass

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