Genomic analysis of circulating tumor cells in adenosquamous carcinoma of the prostate: a case report

BMC Medical Genomics

Eiji Higashihara¹  Akimasa Hayashi²  Junji Shibahara²  Hiroshi Kamma²  Aya Isomura²  Mitsuhiro Tambo³  Takatsugu Okegawa³  Kazuki Honda³  Junji Kitamura³  Ryuki Matsumoto³  Satoru Taguchi³  Toshihiko Kii³  Manami Kinjo³  Yu Nakamura³  Tsuyoshi Yamaguchi³  Hiroshi Fukuhara³  Naoki Ninomiya³  Yoshihiro Tomida³  Kazuki Masuda³ 

[1] Department of ADPKD Research, Kyorin University School of Medicine, Tokyo, Japan;Department of Pathology, Kyorin University School of Medicine, Tokyo, Japan;Department of Urology, Kyorin University School of Medicine, 6-20-2 Shinkawa, 181-8611, Mitaka, Tokyo, Japan;

关键词: Adenosquamous carcinoma;    Case report;    Circulating tumor cell;    Liquid biopsy;    Prostate cancer;   

DOI  :  10.1186/s12920-021-01068-w

来源: Springer

【 摘 要 】

BackgroundAdenosquamous carcinoma of the prostate (ASCP) is an extremely rare and aggressive prostate cancer variant, whose genomic characteristics have not been elucidated. Although liquid biopsy of circulating tumor cells (CTCs) is an emerging topic in oncology, no study has assessed CTCs in patients with ASCP.Case presentation.A 76-year-old man presented with discomfort in his urethra. His prostate-specific antigen (PSA) level was 13.37 ng/mL. A computed tomography (CT) scan indicated a prostate mass with multiple lymph node and lung metastases. The patient underwent transurethral resection of the prostate and prostatic needle biopsy; both specimens demonstrated Gleason grade group 5 acinar adenocarcinoma of the prostate. Bone scintigraphy indicated bone metastasis in the ischium. Combined androgen blockade was implemented, and his serum PSA level rapidly decreased to 0.01 ng/mL. However, a CT scan 6 months after the initial diagnosis revealed worsening of the disease. The patient therefore underwent repeated prostatic needle biopsy; its specimen demonstrated prostatic adenocarcinoma together with squamous carcinoma components. As immunohistochemical analyses showed the tumor cells to be negative for CD56, chromogranin A, synaptophysin, and PSA, the definitive diagnosis was ASCP. Although the patient underwent chemotherapy (docetaxel and cabazitaxel), he died of the disease 3 months after the diagnosis of ASCP, or 13 months after the initial diagnosis of prostatic adenocarcinoma. His PSA values remained ≤ 0.2 ng/mL. CTCs from the patient’s blood (collected before starting docetaxel) were analyzed and genomically assessed. It showed 5 cytokeratin (CK)+ CTCs, 14 CK− CTCs, and 8 CTC clusters, per 10 mL. Next-generation sequencing identified a total of 14 mutations in 8 oncogenes or tumor suppressor genes: PIK3CB, APC, CDKN2A, PTEN, BRCA2, RB1, TP53, and CDK12. Of 14 mutations, 9 (64%) were detected on CK− CTCs and 5 (36%) were detected on CK+ CTCs.ConclusionsThis is the first report of CTC analysis and genomic assessment in ASCP. Although the prognosis of ASCP is dismal due to lack of effective treatment, genomic analysis of CTCs might lead to effective treatment options and improved survival.

【 授权许可】

CC BY