布卢姆综合征 (BS) 是一种罕见的常染色体隐性遗传疾病，由编码参与 DNA 修复和维持染色体稳定性的 RecQ 解旋酶的 BLM 基因功能丧失突变引起。在 BS 患者中，对 DNA 损伤性化疗 (CT) 和电离辐射显着敏感，会加剧合并症并容易出现毒性和不良结果，从而使肿瘤的治疗变得复杂。一名 30 岁的女性患者被诊断患有 BS，她早期就诊Ⅲ期三阴性乳腺癌接受四个周期的阿霉素 (60mg/m2) 和环磷酰胺 (600mg/m2) 治疗，然后每周接受紫杉醇 (80mg/m2) 作为化疗方案，持续 12 周，总共 5000 例cGy 治疗性放射治疗 (RT)。由于治疗完成后 8 个月出现全血细胞减少症，进行了骨髓活检和抽吸，诊断为骨髓增生异常综合征伴原始细胞过多 2 (MDS-EB2)。每 28 天在血液学诊所进行两个疗程的阿扎胞苷 (75mg/m2) 方案。 CT 两周后，患者从急诊科转至血液科门诊，诊断为全血细胞减少症和发热性中性粒细胞减少症。她因随访期间出现败血症于 33 岁时去世。由于 BS 很少见，因此没有针对癌症患者的前瞻性试验，也没有设计治疗方案的证据基础。出于这些原因，强烈建议患者接受多学科护理，对适应症进行精确评估和讨论，并使用足够剂量的 DNA 损伤剂，例如化疗和电离辐射。© 2024。作者。

Bloom syndrome (BS) is a rare autosomal recessive disorder caused by a loss-of-function mutation in the BLM gene encoding an RecQ helicase involved in DNA repair and maintenance of chromosomal stability. In patients with BS, significant sensitivity to both DNA-damaging chemotherapy (CT) and ionizing radiation complicates the management of neoplasms by exacerbating comorbidities and predisposing to toxicities and poor outcomes.A 30-year-old female patient diagnosed with BS who presented with early-stage triple-negative breast cancer was treated with four cycles of doxorubicin (60 mg/m2) and cyclophosphamide (600 mg/m2) followed by weekly paclitaxel (80 mg/m2) for 12 weeks as the chemotherapy protocol and a total of 5000 cGy curative radiotherapy (RT). Due to pancytopenia 8 months after completion of therapy, bone marrow biopsy and aspiration were performed, and a diagnosis of myelodysplastic syndrome with excess blasts 2 (MDS-EB2) was made. Two courses of the azacitidine (75 mg/m2) protocol were administered every 28 days in the hematology clinic. Two weeks after CT the patient was transferred from the emergency department to the hematology clinic with the diagnosis of pancytopenia and febrile neutropenia. She died at the age of 33 due to sepsis that developed during follow-up.Due to the rarity of BS, there is no prospective trial in patients with cancer and no evidence base upon which to design treatment programs. For these reasons, it is strongly recommended that patients receive multidisciplinary care, with precise assessment and discussion of the indication and an adequate dose of DNA-damaging agents such as chemotherapy and ionizing radiation.© 2024. The Author(s).