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一例携带BRCA2突变且血清癌胚抗原水平升高的神经内分泌前列腺癌病例报告及文献复习

A case of neuroendocrine prostate cancer presented with elevated level of serum CEA carrying BRCA2 mutation: case report and literature review.

作者信息

Han Weizhe, Rexiati Nihati, Yu Fang, Wang Yongzhi, Tian Yueli, Wu Jianyuan, Wang Gang, Liu Tao, Yang Zhonghua

机构信息

Department of Urology, Zhongnan Hospital of Wuhan University, Wuhan, China.

Department of Pathology, Zhongnan Hospital of Wuhan University, Wuhan, China.

出版信息

Front Oncol. 2025 Jan 24;15:1508410. doi: 10.3389/fonc.2025.1508410. eCollection 2025.

Abstract

BACKGROUND

neuroendocrine prostate cancer (NEPC) is a rare subtype of prostate cancer (PCa) and few markers are available for screening and monitoring. Potential circulating or fluid markers might facilitate early diagnosis thus improving prognosis of NEPC, especially for NEPC.

CASE PRESENTATION

A man of 71-year was presented with elevated level of serum carcinoembryonic antigen (CEA) (1296.5 ng/ml) and normal PSA (0.47ng/ml). Gastrointestinal endoscopy showed no signs of gastric or colorectal cancer. Fluorodeoxyglucose positron emission tomography-computed tomography (FDG PET-CT) and prostate-specific membrane antigen PET-CT (PSMA PET-CT) indicated prostate cancer with metastases including pelvic lymph nodes, bone as well as lung metastases. Biopsy of prostate revealed mixed carcinoma including small cell neuroendocrine carcinoma (SCNEC) and adenocarcinoma (Gleason score of 4 + 5). Immunohistochemistry (IHC) staining and next generation sequencing demonstrated a strong expression of chromogranin A (CgA), synaptophysin (SYN) and CEA, and a germline mutation in BRCA2, respectively. After a prostatic massage, an increased level of CEA (137 ng/ml vs 5 ng/ml) was detected in urine. Olaparib, a Poly ADP-ribose polymerase inhibitor (PARPi), combined with androgen deprivation therapy (ADT) were administrated. FDG PET-CT indicated tumor regression in both quantity and size three months later, and CEA levels of serum and urine decreased to 23 ng/ml and 2.4 ng/ml 4 months later, respectively.

CONCLUSION

This is the first report of a NEPC presented with an elevated level of CEA, in which CEA was also detected in urine specimen post a prostatic massage. After a combination treatment of ADT for 3 months, levels of CEA in both serum and urine decreased sharply when tumor regressed radiologically. CEA might be a marker of screening and monitoring of NEPC.

摘要

背景

神经内分泌前列腺癌(NEPC)是前列腺癌(PCa)的一种罕见亚型,可用于筛查和监测的标志物很少。潜在的循环或体液标志物可能有助于早期诊断,从而改善NEPC的预后,尤其是对于NEPC。

病例报告

一名71岁男性血清癌胚抗原(CEA)水平升高(1296.5 ng/ml),前列腺特异性抗原(PSA)正常(0.47 ng/ml)。胃肠道内镜检查未发现胃癌或结直肠癌迹象。氟脱氧葡萄糖正电子发射断层扫描-计算机断层扫描(FDG PET-CT)和前列腺特异性膜抗原PET-CT(PSMA PET-CT)显示前列腺癌伴转移,包括盆腔淋巴结、骨以及肺转移。前列腺活检显示为混合癌,包括小细胞神经内分泌癌(SCNEC)和腺癌( Gleason评分4 + 5)。免疫组织化学(IHC)染色和下一代测序分别显示嗜铬粒蛋白A(CgA)、突触素(SYN)和CEA的强表达以及BRCA2的种系突变。前列腺按摩后,尿液中检测到CEA水平升高(137 ng/ml对5 ng/ml)。给予奥拉帕利,一种聚ADP核糖聚合酶抑制剂(PARPi),联合雄激素剥夺治疗(ADT)。三个月后,FDG PET-CT显示肿瘤在数量和大小上均有消退,血清和尿液中的CEA水平在四个月后分别降至23 ng/ml和2.4 ng/ml。

结论

这是首例以CEA水平升高为表现的NEPC报告,其中在前列腺按摩后的尿液标本中也检测到CEA。在ADT联合治疗3个月后,随着肿瘤影像学消退,血清和尿液中的CEA水平均急剧下降。CEA可能是NEPC筛查和监测的标志物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d6a/11802412/58848f308078/fonc-15-1508410-g001.jpg

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