Morecroft Renee, Logothetics Constantine N, Tarnawsky Stefan P, Davis Andrew A
Division of Medical Oncology, Department of Medicine, Washington University in St. Louis, St. Louis, MO, USA.
Transl Breast Cancer Res. 2024 Jul 22;5:26. doi: 10.21037/tbcr-24-13. eCollection 2024.
Shwachman-Diamond syndrome (SDS) is a rare inherited bone marrow failure syndrome associated with cytopenia and the development of hematologic malignancies. Solid tumor occurrence is rare and, historically, these patients have had poor outcomes due to chemotherapy-induced myelosuppression and increased susceptibility to infections. We report the administration of cytotoxic systemic therapy with granulocyte colony-stimulating factor (G-CSF) in a patient with SDS and metastatic breast cancer. We describe the risk-benefit profile of utilizing G-CSF in managing this patient to improve her therapeutic outcome and review the prior literature.
A 41-year-old Caucasian female with SDS developed stage IV triple-positive [estrogen positive, progesterone positive, and human epidermal growth factor receptor 2 () positive] invasive ductal carcinoma of the left breast with liver metastases. She had lifelong thrombocytopenia with other hematologic parameters within normal limits, no tumor protein 53 () mutation, and no history of marrow dysplasia. Based on her underlying SDS, paclitaxel was favored over docetaxel due to the reduced risk of myelosuppression and weekly dosing schedule. Her regimen included weekly paclitaxel with trastuzumab and pertuzumab every 21 days. She experienced chemotherapy-induced neutropenia with an absolute neutrophil count of less than 1,500 leading to the utilization of G-CSF support. She received chemotherapy with twice-weekly G-CSF and did not experience severe infections. After nine cycles of therapy, she had no evidence of metastatic disease on imaging. The patient has an ongoing complete response at 18 months since treatment initiation.
This case report describes the treatment of a patient with SDS and metastatic breast cancer with cytotoxic chemotherapy and G-CSF. G-CSF facilitated ongoing chemotherapy administration and reduced the risk of infection leading to an optimal therapeutic outcome. There should be careful consideration of early G-CSF use in patients with SDS to optimize continuous chemotherapy dosing.
施瓦赫曼-戴蒙德综合征（SDS）是一种罕见的遗传性骨髓衰竭综合征，与血细胞减少和血液系统恶性肿瘤的发生有关。实体瘤的发生较为罕见，从历史上看，这些患者由于化疗引起的骨髓抑制和感染易感性增加，预后较差。我们报告了一例患有SDS和转移性乳腺癌的患者接受细胞毒性全身治疗并联合粒细胞集落刺激因子（G-CSF）的情况。我们描述了在管理该患者时使用G-CSF的风险效益概况，以改善其治疗结果，并回顾了先前的文献。
一名41岁患有SDS的白人女性患了IV期三阳性[雌激素阳性、孕激素阳性和人表皮生长因子受体2（）阳性]左乳浸润性导管癌并伴有肝转移。她终生患有血小板减少症，其他血液学参数在正常范围内，无肿瘤蛋白53（）突变，也无骨髓发育异常病史。基于其潜在的SDS，由于骨髓抑制风险降低和每周给药方案，紫杉醇比多西他赛更受青睐。她的治疗方案包括每周一次紫杉醇，每21天一次曲妥珠单抗和帕妥珠单抗。她经历了化疗引起的中性粒细胞减少，绝对中性粒细胞计数低于1500，导致需要使用G-CSF支持。她接受了每周两次G-CSF的化疗，未发生严重感染。经过九个周期的治疗，影像学检查显示她没有转移性疾病的证据。自治疗开始18个月以来，该患者一直处于完全缓解状态。
本病例报告描述了一名患有SDS和转移性乳腺癌的患者接受细胞毒性化疗和G-CSF的治疗情况。G-CSF促进了持续化疗的进行，并降低了感染风险，从而带来了最佳治疗效果。对于SDS患者，应谨慎考虑早期使用G-CSF以优化持续化疗给药。
