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<p>Myeloid neoplasms post cytotoxic therapy (MN-pCT), a rare but severe complication of cytotoxic chemotherapy, is particularly associated with alkylating agents and topoisomerase II inhibitors. Although the risk of MN-pCT is well-recognized in <i>BRCA2</i> variant carriers, its occurrence in <i>BRCA1</i> carriers remains uncommon. Here, a woman in her late twenties was diagnosed with locally advanced triple-negative breast cancer (TNBC; estrogen receptor-negative, progesterone receptor-negative, and human epidermal growth factor receptor 2-negative) (cT3N1M0, stage IIIA) and received neoadjuvant chemotherapy consisting of dose-dense doxorubicin and cyclophosphamide, followed by weekly paclitaxel. During treatment, a pathogenic germline <i>BRCA1</i> variant was identified. The patient achieved a complete pathological response after mastectomy with axillary lymph node dissection and postoperative radiotherapy. Nine months after surgery, she presented with persistent fever and systemic symptoms and was diagnosed with MN-pCT harboring an 11q23 (<i>KMT2A</i>) rearrangement. The disease was refractory to the initial induction therapy; however, molecular remission was achieved with salvage chemotherapy, followed by successful allogeneic hematopoietic stem cell transplantation from an HLA-matched sibling. This case highlights the importance of clinical awareness and prompt hematologic evaluation when suggestive symptoms develop after cytotoxic chemotherapy in patients with hereditary breast cancer..</p>

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Myeloid neoplasms post cytotoxic therapy (MN-pCT) following neoadjuvant chemotherapy in a patient with BRCA1 pathogenic variant-associated triple-negative breast cancer: a case report

  • 期刊论文

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  • 发表日期：

    2026年7月17日

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  • Hisako Yano,
  • Kanae Taruno,
  • Nana Arai,
  • Sae You,
  • Mieko Takeuchi,
  • Hitomi Sakai,
  • Junji Tsurutani,
  • Norimichi Hattori

摘要

Myeloid neoplasms post cytotoxic therapy (MN-pCT), a rare but severe complication of cytotoxic chemotherapy, is particularly associated with alkylating agents and topoisomerase II inhibitors. Although the risk of MN-pCT is well-recognized in BRCA2 variant carriers, its occurrence in BRCA1 carriers remains uncommon. Here, a woman in her late twenties was diagnosed with locally advanced triple-negative breast cancer (TNBC; estrogen receptor-negative, progesterone receptor-negative, and human epidermal growth factor receptor 2-negative) (cT3N1M0, stage IIIA) and received neoadjuvant chemotherapy consisting of dose-dense doxorubicin and cyclophosphamide, followed by weekly paclitaxel. During treatment, a pathogenic germline BRCA1 variant was identified. The patient achieved a complete pathological response after mastectomy with axillary lymph node dissection and postoperative radiotherapy. Nine months after surgery, she presented with persistent fever and systemic symptoms and was diagnosed with MN-pCT harboring an 11q23 (KMT2A) rearrangement. The disease was refractory to the initial induction therapy; however, molecular remission was achieved with salvage chemotherapy, followed by successful allogeneic hematopoietic stem cell transplantation from an HLA-matched sibling. This case highlights the importance of clinical awareness and prompt hematologic evaluation when suggestive symptoms develop after cytotoxic chemotherapy in patients with hereditary breast cancer..