Metastatic triple-negative breast cancer with orbital and bone metastases responding to nab-paclitaxel plus everolimus

This breast cancer diagnosis at a glance

Stage at diagnosis
Stage IV
Subtype
Invasive Ductal Carcinoma
Biomarkers
Primary breast cancer was ER-low (5%), PR/HER2 negative. Orbital metastasis was triple-negative with AKT1 exon 4 mutation.
Sex
Female
Spread to
right orbit/orbital mass; bone
Treatment
surgery, chemotherapy, hormone therapy, targeted therapy and bone supportive therapy
Outcome
Responding Well

Treatment course, step by step

  1. Initial breast cancer 3 years earlier: modified radical mastectomy
  2. 6 cycles docetaxel/cyclophosphamide (TC)
  3. tamoxifen 20 mg daily. Metastatic recurrence with orbital and bone disease: navigation-assisted right orbital mass biopsy confirmed metastatic triple-negative invasive ductal carcinoma with AKT1 exon 4 mutation
  4. nab-paclitaxel 100 mg/m2 on days 1, 8, and 15 plus everolimus 10 mg daily
  5. zoledronic acid 4 mg monthly for skeletal-related event prevention
  6. 6-month follow-up showed stable systemic disease, improved ocular symptoms, stable orbital metastases on MRI, and RECIST partial response/progression-free interval.

What happened, in summary

This 72-year-old woman had been treated 3 years earlier for cT2N0 breast cancer that was ER-low positive at 5%, PR-negative, and HER2-negative. Initial treatment included modified radical mastectomy, 6 cycles of docetaxel/cyclophosphamide chemotherapy, and tamoxifen 20 mg daily. She later developed 3 months of right and left orbital pain, double vision, and periorbital swelling. Examination showed right conjunctival hyperemia, increased exudate, and reduced right-eye visual acuity. Orbital MRI showed multiple extraocular muscle inflammation, compressive displacement of the optic nerve, and right periorbital edema. Because of her breast cancer history, clinicians performed full staging. Bone scintigraphy and whole-body CT revealed extensive bone metastases. A right orbital mass biopsy confirmed metastatic invasive ductal carcinoma of the breast. The metastatic tumor was ER-negative, PR-negative, and HER2-negative, making it triple-negative at recurrence. Next-generation sequencing found an AKT1 exon 4 mutation, indicating activation of the PI3K/AKT/mTOR pathway. Her subtype was categorized as Luminal Androgen Receptor / PI3K-AKT-mut within the Fudan TNBC classification. Treatment was selected based on this profile. She started nab-paclitaxel 100 mg/m2 on days 1, 8, and 15 combined with everolimus 10 mg daily. Zoledronic acid 4 mg monthly was added to reduce skeletal-related event risk from bone metastases. At 6-month follow-up, she had stable systemic disease, significant improvement in ocular symptoms, stable orbital metastases on MRI, and a RECIST partial response/progression-free interval. Ongoing surveillance included orbital MRI and circulating tumor DNA monitoring. The receptor change from ER-low primary disease to triple-negative metastatic disease also guided the shift away from endocrine therapy toward chemotherapy plus pathway-directed treatment.

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This is a lay summary of an account first published by PMC / PubMed Central. Read the original in full

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