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Primary Small Cell Neuroendocrine Carcinoma of the Breast: A Rare Case Study

This case report discusses a 44-year-old female presenting with a painless left breast lump, ultimately diagnosed with primary small cell neuroendocrine carcinoma (SCNC) of the breast. Despite her family history of breast cancer, her symptoms were atypical with no previous similar complaints. Thorough investigations included imaging and core biopsy, confirming SCNC through immunohistochemistry. This rare variant accounts for a small proportion of breast tumors, with its prognosis being less dire than previously believed when detected early. The importance of multimodal treatment strategies is highlighted.

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Primary Small Cell Neuroendocrine Carcinoma of the Breast: A Rare Case Study

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  1. Small....but lethal

  2. History • P/C: 44 yr female, presented with symptoms left breast • Painless lump • Not sure of the duration • No skin changes • HOPC & Past history • No nipple discharge, no previous h/o similar complaint • Smoker 20 cig/day, non-diabetic • 3 children • No previous h/o benign breast disease

  3. History • Family History • Mother had breast cancer at the age of 76 (now well) • Paternal aunt had breast cancer at the age of 52 (now well)

  4. Clinical Examination • Examination finding • Lump on the left upper quadrant • Size 10 cms • Mobile • Non-tender • No skin changes, no nipple discharge • no lymphadenopathy

  5. TBC • Referral to triple assessment clinic • Clinical score: 4 • Mammogram • Ultrasound • Core biopsy

  6. Ultrasound

  7. Mammogram

  8. Biopsy Clinical core biopsy x 4 of the left breast lump

  9. Histopathological diagnosis Core biopsy N T x20 x5

  10. Immunohistochemistry Synaptophysin CLA

  11. Immunohistochemistry • Positive for CD56 and synaptophysin • Negative for CK7 and CK20 • ER,PR and HER-2 negative

  12. Further investigations • CT • Bronchoscopy

  13. Oat cell carcinoma in breast • Extrapulmonary small-cell neuroendocrine carcinomas account for 2.5% - 5% of all small-cell neuroendocrine tumours • Primary neuroendocrine carcinoma of the breast are a group of neoplasms with morphological features similar to those of neuroendocrine tumours of the gastrointestinal tract and lung. • Primary small cell neuroendocrine carcinoma of the breast (SCNC) is one of the most uncommon variants

  14. Incidence • Most cases are found in women • Age incidence 40-70 years

  15. Diagnosis • Exclusion of an extra-mammary primary site • Demonstration of an in-situ component within the breast histopathologically

  16. Histopathology • The morphological and immunohistochemical patterns of this tumour are very similar to its pulmonary counterpart • Some believe that SCNC is a distinct type of breast carcinoma different from the usual types of carcinoma • It is important that the in situ ductal component is truly a precursor lesion of small-cell neuroendocrine carcinoma and supports a primary breast origin

  17. Immunohistochemical pattern • Expression of neuroendocrine markers (CAM 5.2, CK7, neuron specific enolase NSE, PGP9.5, chromogranin and synaptophysin) strongly supports the diagnosis • However this expression is inconsistent

  18. Hormone receptor expression • Positive expression of ER and PR has been reported in lungs and other sites • Their expression in SCNC is not proof of mammary origin • Varied expression in literature of primary breast SCNC

  19. Treatment • No standard treatment due to its rarity • Surgery and adjuvant chemoradiotherapy is the mainstay

  20. Clinical outcome • Controversial due to the lack of differentiation between primary neuroendocrine tumours and usual carcinoma with foci of neuroendocrine cells • Most SCNC show poor prognosis • Size is an important prognostic factor • Prognosis may not be as poor as originally thought

  21. Summary • Primary small cell neuroendocrine carcinoma of the breast (SCNC) is one of the most uncommon variants • The morphological and immunohistochemical patterns of this tumour are similar to its pulmonary counterpart • Size is a very important prognostic factor in this tumour • The prognosis may not be as poor as previously thought, particularly for early stage disease • Early detection and multimodality approach like surgery, chemotherapy and radiotherapy should be used

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