Department of Breast Cancer, Cancer Center, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.
Shantou University Medical College, Shantou, China.
Front Endocrinol (Lausanne). 2021 Oct 8;12:659537. doi: 10.3389/fendo.2021.659537. eCollection 2021.
Peritoneal metastases from invasive lobular carcinoma (ILC) of breast are uncommon and usually related to poor prognosis due to difficulty of detection in clinical practice and drug resistance. Therefore, recognizing the entities of peritoneal metastases of ILC and the potential mechanism of drug resistance is of great significance for early detection and providing accurate management. We herein report a case of a 60-year-old female who presented with nausea and vomiting as the first manifestation after treated with abemaciclib (a CDK4/6 inhibitor) plus fulvestrant for 23 months due to bone metastasis of ILC. Exploratory laparotomy found multiple nodules in the peritoneum and omentum, and immunohistochemistry confirmed that the peritoneal metastatic lesions were consistent with ILC. Palliative therapy was initiated, but the patient died two months later due to disease progression with malignant ascites. Whole exome sequencing (WES) was used to detect the tumor samples and showed the peritoneal metastatic lesions had acquired ESR1 and PI3KCA mutations, potentially explaining the mechanism of endocrine therapy resistance. We argue that early diagnosis of peritoneal metastasis from breast cancer is crucial for prompt and adequate treatment and WES might be an effective supplementary technique for detection of potential gene mutations and providing accurate treatment for metastatic breast cancer patients.
乳腺癌浸润性小叶癌(ILC)的腹膜转移并不常见,由于在临床实践中难以检测到且存在药物耐药性,通常与预后不良有关。因此,识别 ILC 的腹膜转移实体和潜在的耐药机制对于早期检测和提供准确的管理具有重要意义。本文报告了一例 60 岁女性病例,该患者因 ILC 的骨转移,接受阿贝西利(CDK4/6 抑制剂)联合氟维司群治疗 23 个月后,以恶心和呕吐为首发表现。剖腹探查发现腹膜和大网膜多处结节,免疫组织化学证实腹膜转移病变与 ILC 一致。开始姑息治疗,但两个月后因疾病进展伴恶性腹水导致患者死亡。全外显子组测序(WES)用于检测肿瘤样本,显示腹膜转移病灶获得了 ESR1 和 PI3KCA 突变,可能解释了内分泌治疗耐药的机制。我们认为,早期诊断乳腺癌腹膜转移对于及时和充分的治疗至关重要,WES 可能是检测潜在基因突变和为转移性乳腺癌患者提供准确治疗的有效补充技术。