Chen Huan, Qu Min, Wang Yan, Gao Xu
Department of Urology, Shanghai Changhai Hospital, Naval Medical University, Shanghai, China.
Transl Androl Urol. 2024 Sep 30;13(9):2153-2159. doi: 10.21037/tau-24-223. Epub 2024 Sep 26.
Incidences of rectal infiltration by prostate cancer (PCa) are reported to affect up to 12% of patients studied. PCa invading the rectum is prone to cause difficulty in defecation, bloody stool and pain, leading to a decline in patients' quality of life. Unfortunately, the prognosis for these patients is poor and the survival period is short. Total pelvic exenteration (TPE) has been demonstrated to mitigate pain and improve symptoms such as defecation difficulty, dysuria, and hematuria. However, most patients still harbor residual tumor and fail to exhibit any improvement in long-term survival.
Here, we present a case of PCa invading the rectum with focal neuroendocrine differentiation, characterized by clinical presentations of defecation difficulties and rectal bleeding. A TPE procedure was performed, with a whole exome sequencing (WES) assay indicating that the patient exhibited a high tumor mutation burden (TMB) and high microsatellite instability (MSI-H). Subsequently, the patient received androgen deprivation therapy (ADT) combined with adjuvant immunotherapy following the procedure. At the subsequent six-year follow-up, no local or systemic recurrence was observed, and the prostate-specific antigen (PSA) level remained undetectable.
This disease entity remains relatively rare in the literature. Accurate differential diagnosis is important. TPE combined with immunotherapy may improve the prognosis. It is of utmost importance to achieve an accurate differential diagnosis, which necessitates the collaboration of multiple disciplines and the performance of requisite tests, including immunohistochemistry and genetic testing.
据报道,前列腺癌(PCa)直肠浸润的发生率在接受研究的患者中高达12%。PCa侵犯直肠容易导致排便困难、便血和疼痛,从而导致患者生活质量下降。不幸的是,这些患者的预后较差,生存期较短。全盆腔脏器切除术(TPE)已被证明可减轻疼痛并改善诸如排便困难、排尿困难和血尿等症状。然而,大多数患者仍有残留肿瘤,长期生存率并未得到改善。
在此,我们报告一例伴有局灶性神经内分泌分化的PCa侵犯直肠的病例,其临床表现为排便困难和直肠出血。实施了TPE手术,全外显子测序(WES)分析表明该患者具有高肿瘤突变负荷(TMB)和高微卫星不稳定性(MSI-H)。随后,该患者在手术后接受了雄激素剥夺治疗(ADT)联合辅助免疫治疗。在随后的六年随访中,未观察到局部或全身复发,前列腺特异性抗原(PSA)水平仍检测不到。
该疾病实体在文献中仍然相对罕见。准确的鉴别诊断很重要。TPE联合免疫治疗可能改善预后。进行准确的鉴别诊断至关重要,这需要多学科协作并进行必要的检查,包括免疫组化和基因检测。