Overview
The article presents a rare case of Cancer-related microangiopathic hemolytic anemia (CR-MAHA) in a 39-year-old woman with metastatic breast cancer. CR-MAHA is a life-threatening paraneoplastic syndrome that causes rapid destruction of red blood cells and usually carries a very poor prognosis (often days to weeks without treatment).
Case Presentation & Diagnosis
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Initial Symptoms: The patient presented with progressively worsening back pain and severe fatigue.
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Clinical Findings: Blood work revealed severe anemia, low platelet count, and elevated liver enzymes. A peripheral blood smear showed fragmented red blood cells (schistocytes), confirming CR-MAHA.
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Bone Marrow Biopsy: Revealed metastatic adenocarcinoma originating from the breast.
Treatment & Favorable Outcome
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Immediate Action: Because CR-MAHA constitutes a medical crisis, the patient was urgently treated with induction chemotherapy (doxorubicin and cyclophosphamide).
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Maintenance: Following the stabilization of her blood counts, she was transitioned to targeted hormone therapy (ovarian function suppression, anastrozole, and the CDK4/6 inhibitor abemaciclib).
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Outcome: Thanks to early recognition and rapid treatment, the patient achieved an excellent clinical response, surviving and remaining largely stable for over 26 months.
Key Genomic Insights
Comprehensive genomic profiling of the patient's tumor revealed two significant molecular alterations:
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Germline ATM Mutation: A known pathogenic mutation associated with an increased risk of breast cancer.
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ESR1-CCDC170 Fusion Variant: A rare fusion associated with aggressive breast cancer and hormone therapy resistance. Notably, this was only detected via RNA sequencing from the solid tumor, as standard liquid biopsies (blood tests) were not designed to catch it.
Conclusion
The authors emphasize that early diagnosis and prompt, aggressive treatment are critical for surviving CR-MAHA. Furthermore, the discovery of specific genetic mutations in this patient suggests that further investigation using both DNA and RNA sequencing could help uncover potential genomic predispositions to this rare syndrome.
Link to Journal
