ArticleFrontiers in oncology2026
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.
Article in Frontiers in oncology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Cancer-related microangiopathic hemolytic anemia (CR-MAHA) is a rare and life-threatening paraneoplastic syndrome that carries a poor prognosis if not recognized early. While existing reports primarily focus on clinical outcomes, the underlying molecular changes remain poorly understood. We present a case in which the patient initially presented with back pain and fatigue. Further diagnostic workup confirmed the diagnosis of CR-MAHA, and she was promptly initiated on treatment, resulting in an excellent clinical anti-tumor response and resolution of the hemolytic anemia. Genomic testing revealed a germ-line ATM single nucleotide variant and an ESR1 fusion variant. This case raises important questions regarding potential genomic alterations that may predispose individuals to CR-MAHA and underscores the necessity for further investigation of tumor samples from these patients using both DNA and RNA sequencing.
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