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伴有新型基因融合的前列腺腺癌:一例报告

Prostatic adenocarcinoma with novel gene fusion: a case report.

作者信息

Yeh Yunshin A, Yang Shu, Constantinescu Michael, Chaudoir Catherine, Tanner Anthony, Henry Mishala, Anderson Sheila, Saldivar Juan-Sebastian, Serkin Faye, Fazili Tajammul, Lurie Aubrey A, Yu Xiuping

机构信息

Pathology and Laboratory Medicine Service, Overton Brooks VA Medical Center Shreveport, Louisiana, USA.

Department of Biochemistry and Molecular Biology, Louisiana State University Health Science Center Shreveport, Louisiana, USA.

出版信息

Am J Clin Exp Urol. 2019 Oct 15;7(5):341-345. eCollection 2019.

Abstract

gene fusion occurs in approximately 50% of prostatic adenocarcinoma and their expression is associated with aggressive phenotype, higher tumor stage, and tumor metastasis. A case of prostatic adenocarcinoma with translocation was previously reported. We report a prostatic adenocarcinoma with novel gene fusion that occurs in a 71-year-old male patient with aggressive histologic phenotype and multiple bony metastases. Prostatic biopsy revealed that there is a prostatic adenocarcinoma with a Gleason score of 9 (4+5), grade group 5, and multiple sites of perineural and ganglional invasion. Fluorescence in-situ hybridization (FISH) and next-generation sequencing were performed. FISH studies showed a breakage within the gene in prostatic adenocarcinoma cells. Next-generation sequencing confirmed that there is a translocation in the prostatic adenocarcinoma. In addition, mutations were found. alterations or dysregulation of PI3K signaling pathway were found in many types of cancers. TRK inhibitors including larotrectinib and entrectinib were approved by the US Food and Drug Administration for treating TRK fusion-positive malignant tumors and PI3K/AKT/mTOR pathway inhibitors were under clinical studies on various cancers including prostate cancer. In our current case, both and may serve as biomarkers for precision targeted therapy.

摘要

基因融合发生在大约50%的前列腺腺癌中,其表达与侵袭性表型、更高的肿瘤分期和肿瘤转移相关。先前曾报道过一例伴有易位的前列腺腺癌。我们报告了一例发生在一名71岁男性患者身上的具有新型基因融合的前列腺腺癌,该患者具有侵袭性组织学表型和多处骨转移。前列腺活检显示存在 Gleason 评分为9(4+5)、分级为5组且伴有多处神经周围和神经节侵犯的前列腺腺癌。进行了荧光原位杂交(FISH)和二代测序。FISH研究显示前列腺腺癌细胞中的基因存在断裂。二代测序证实前列腺腺癌中存在易位。此外,还发现了突变。在许多类型的癌症中都发现了PI3K信号通路的改变或失调。包括拉罗替尼和恩曲替尼在内的TRK抑制剂已被美国食品药品监督管理局批准用于治疗TRK融合阳性恶性肿瘤,PI3K/AKT/mTOR通路抑制剂正在针对包括前列腺癌在内的各种癌症进行临床研究。在我们目前的病例中,和都可作为精准靶向治疗的生物标志物。

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