Cancer-related microangiopathic hemolytic anemia (CR-MAHA) in a metastatic breast cancer patient with a germ-line ATM single nucleotide variant and an ESR1 fusion variant: insights from a case report on early diagnosis and improved outcomes - Takeaways - MDSpire

Cancer-related microangiopathic hemolytic anemia (CR-MAHA) in a metastatic breast cancer patient with a germ-line ATM single nucleotide variant and an ESR1 fusion variant: insights from a case report on early diagnosis and improved outcomes

  • By

  • Fengting Yan

  • Aimee Wu

  • Yufei Wang

  • Tanya Wahl

  • Zirui Wang

  • Cesar Gutierrez

  • Josiah Wagner

  • Alexa Dowdell

  • Alexandra Bartlett

  • Christopher Carney

  • Daniel Landis

  • Brian Piening

  • Henry Kaplan

  • July 7, 2026

  • 0 min

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  • 1

    Cancer-related microangiopathic hemolytic anemia (CR-MAHA) is a rare paraneoplastic syndrome with a poor prognosis if not recognized early.

  • 2

    The case study presents a 39-year-old woman with metastatic breast cancer who developed CR-MAHA, initially presenting with back pain and fatigue.

  • 3

    Genomic testing revealed a germ-line ATM mutation and an ESR1 fusion variant in the patient, suggesting potential predispositions to CR-MAHA.

  • 4

    The patient received treatment with doxorubicin and cyclophosphamide, resulting in an excellent clinical anti-tumor response and resolution of hemolytic anemia.

  • 5

    Further investigation of genomic alterations in tumor samples is necessary to understand the mechanisms underlying CR-MAHA.

Original Source(s)

Cancer-related microangiopathic hemolytic anemia (CR-MAHA) in a metastatic breast cancer patient with a germ-line ATM single nucleotide variant and an ESR1 fusion variant: insights from a case report on early diagnosis and improved outcomes

  • by Fengting Yan, Aimee Wu, Yufei Wang, Tanya Wahl, Zirui Wang, Cesar Gutierrez, Josiah Wagner, Alexa Dowdell, Alexandra Bartlett, Christopher Carney, Daniel Landis, Brian Piening, Henry Kaplan

  • July 7, 2026

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