Metastatic Breast Carcinoma in Cerebrospinal Fluid - A Cytomorphological and Immunocytochemical Analysis

Leptomeningeal Metastasis in Breast Carcinoma

An Uncommon but Devastating Complication

• Occurs in approximately 2-5% of breast cancer patient.

  
  

• Breast Cancer is the most common solid tumour causing leptomeningeal metastasis

  
  

• Detection of malignant cells in CSF is the gold standard, but diagnostically challenging.

  
  

• Prognosis is generally poor, making early diagnosis crucial

  
  

Case Summary

Patient: 42yr old female with a known case of breast carcinoma on radiotherapy

Clinical presentation: 

• Headache

• Blurred vision

• Disorientation

• Papilledema – a clinical sign that indicates elevated intracranial pressure, necessitating immediate lumbar puncture and CSF fluid analysis

Investigations and diagnostic Analysis

CSF cytopathology:

• Physical and Gross examination - Received 3cc of colorless fluid

  
  

• Microscopic cellular description- Low cellularity smears with isolated, scattered, and clustered atypical cells showing enlarged hyperchromatic nuclei

  
  

Microscopic cytology image of atypical cells in CSF

Immunocytochemical Profile

Cytokeratin positive in all atypical cells, indicating that the abnormal cells detected in the fluid are of epithelial origin rather than native neural or lymphoid cells.

Immunocytochemical Profile –Breast lineage marker

GATA3nuclear positivity observed, its expression strongly correlates with secondary metastasis of breast primary carcinoma origin

Diagnostic Conclusion

• "CSF is positive for malignant cells, possibly carcinoma cells from the breast primary."

  
  

• The combination of a positive general epithelial marker (CK) and a positive primary- specific marker (GATA3) helps pinpoint the secondary metastasis from the breast carcinoma primary tumour.

  
  

• Diagnosis: Leptomeningeal metastasis from breast primary.

Key References

• Scott BJ et al. Leptomeningeal Metastases in Breast Cancer. AJCR 2013.

  
  

• Mollica L et al. Leptomeningeal Carcinomatosis and Breast Cancer. Cancers 2021

  
  

• Uddin A et al. Isolated Leptomeningeal Metastasis of Breast Cancer During Neo- Adjuvant Chemotherapy. Cureus 2022.