PTEN and PIK3CA Mutation Positive Breast Neuroendocrine Carcinoma Treated with Molecularly Targeted Therapy Including Capivasertib.
Kyoko Shimoyama, Yoshihiro Ikura
✦ AI-curated · Sources linked
Case in brief
A woman in her 40s with metachronous bilateral breast cancer was diagnosed with breast neuroendocrine carcinoma after rapid progression and metastases to bone, liver, and lung were detected during semiannual follow-up. Comprehensive genomic profiling identified PTEN, PIK3CA, and ESR1 mutations and high tumor mutational burden. She received everolimus, abemaciclib, and bevacizumab; capivasertib was reported to be the most effective treatment.
What made this case unusual
The case combined breast neuroendocrine carcinoma with PTEN and PIK3CA mutations, and capivasertib was reported as the most effective among the therapies given.
Diagnostic / clinical pearl
Rapid progression in a breast cancer initially followed as another type should prompt consideration of breast neuroendocrine carcinoma; recognizing it can enable genomic profiling to inform treatment selection.