Abstract：
BACKGROUND: 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.
METHODS: 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.
CONCLUSIONS: 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.
METHODS: 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.
CONCLUSIONS: 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.
摘要：
背景：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RecQ解旋酶的BLM基因中的功能丧失突变引起，该基因参与DNA修复和维持染色体稳定性。在BS患者中，对DNA损伤性化疗(CT)和电离辐射的显著敏感性使肿瘤的治疗复杂化,共病加剧,毒性易感,预后不良.
方法：一名诊断为BS的女性患者，患有早期三阴性乳腺癌，接受了4个周期的阿霉素（60mg/m2）和环磷酰胺（600mg/m2），然后每周紫杉醇（80mg/m2）治疗12周，并进行总计5000cGy治愈性放疗（RT）。由于治疗结束后8个月的全血细胞减少症，进行骨髓活检和抽吸,并诊断为骨髓增生异常综合征伴过度母细胞2（MDS-EB2）。在血液学诊所中每28天施用两个疗程的阿扎胞苷(75mg/m2)方案。CT后两周，患者被从急诊科转移到血液科，诊断为全血细胞减少症和发热性中性粒细胞减少症。她因在随访期间发展的败血症而去世，享年33岁。
结论：由于BS的稀有性，目前尚无针对癌症患者的前瞻性试验,也没有设计治疗方案的证据.由于这些原因,强烈建议患者接受多学科护理，精确评估和讨论适应症和足够剂量的DNA损伤剂，如化疗和电离辐射。
方法：一名诊断为BS的女性患者，患有早期三阴性乳腺癌，接受了4个周期的阿霉素（60mg/m2）和环磷酰胺（600mg/m2），然后每周紫杉醇（80mg/m2）治疗12周，并进行总计5000cGy治愈性放疗（RT）。由于治疗结束后8个月的全血细胞减少症，进行骨髓活检和抽吸,并诊断为骨髓增生异常综合征伴过度母细胞2（MDS-EB2）。在血液学诊所中每28天施用两个疗程的阿扎胞苷(75mg/m2)方案。CT后两周，患者被从急诊科转移到血液科，诊断为全血细胞减少症和发热性中性粒细胞减少症。她因在随访期间发展的败血症而去世，享年33岁。
结论：由于BS的稀有性，目前尚无针对癌症患者的前瞻性试验,也没有设计治疗方案的证据.由于这些原因,强烈建议患者接受多学科护理，精确评估和讨论适应症和足够剂量的DNA损伤剂，如化疗和电离辐射。
