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首例具有神经内分泌表型特征的前列腺导管腺癌,伴有 PTEN、RB1 和 TP53 改变。

A first case of ductal adenocarcinoma of the prostate having characteristics of neuroendocrine phenotype with PTEN, RB1 and TP53 alterations.

机构信息

Department of Urology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.

Genomics Unit, Keio Cancer Center, Keio University School of Medicine, Tokyo, Japan.

出版信息

BMC Med Genomics. 2021 Oct 9;14(1):245. doi: 10.1186/s12920-021-01093-9.

Abstract

BACKGROUND

Ductal adenocarcinoma and neuroendocrine cancer are rare subtypes of prostate cancer with poor prognosis and limited therapeutic options. We present the first case of ductal adenocarcinoma having a neuroendocrine phenotype.

CASE PRESENTATION

A 63-year-old man presented with gross hematuria and urinary retention, and his serum prostate-specific antigen level was 4.58 ng/mL. We performed transurethral resection of the prostate, and the diagnosis was ductal adenocarcinoma with a Gleason score of 5 + 4 for acinar adenocarcinoma. Magnetic resonance imaging showed local invasion of left lobe of the prostate and bone metastasis of the left trochanteric section of the femur. Multidisciplinary treatments such as androgen deprivation therapy, chemoradiation therapy, and surgery for metastatic lesions have led to long-term survival. Since next-generation sequencing revealed PTEN and RB1 co-loss and TP53 mutations, we re-evaluated the immunohistochemistry and he was found to be positive for synaptophysin.

CONCLUSIONS

This is the first Japanese case of ductal adenocarcinoma with a neuroendocrine phenotype. Genetic analysis may help not only guide the therapeutic strategies, but also sometimes with the diagnosis.

摘要

背景

导管腺癌和神经内分泌癌是前列腺癌罕见的亚型,预后较差,治疗选择有限。我们报告首例具有神经内分泌表型的导管腺癌病例。

病例介绍

一名 63 岁男性因肉眼血尿和尿潴留就诊,血清前列腺特异性抗原水平为 4.58ng/mL。我们进行了经尿道前列腺切除术,诊断为导管腺癌,腺泡腺癌的 Gleason 评分为 5+4。磁共振成像显示前列腺左叶局部侵犯和左股骨转子节骨转移。多学科治疗,如雄激素剥夺治疗、放化疗和转移性病变手术,导致长期生存。由于下一代测序显示 PTEN 和 RB1 共缺失和 TP53 突变,我们重新评估了免疫组织化学,发现他突触素阳性。

结论

这是首例日本具有神经内分泌表型的导管腺癌病例。基因分析不仅有助于指导治疗策略,有时还可以辅助诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3f64/8502309/ae13dc2d4d1d/12920_2021_1093_Fig1_HTML.jpg

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