Kim Han Gyeol, Moon Sung Kyoung, Kim Hyun-Soo, Na Kiyong
Department of Pathology, Kyung Hee University Hospital, Kyung Hee University College of Medicine, Seoul, Republic of Korea.
Department of Radiology, Kyung Hee University Hospital, Kyung Hee University College of Medicine, Seoul, Republic of Korea.
Anticancer Res. 2025 Feb;45(2):719-731. doi: 10.21873/anticanres.17460.
BACKGROUND/AIM: Primary retroperitoneal squamous cell carcinoma (PRSCC) is extremely rare, and its diagnosis and management are challenging. Previous reports have highlighted the potential role of human papillomavirus (HPV) in the pathogenesis of PRSCC. This study aimed to determine the clinicopathological and molecular characteristics of PRSCC.
We searched PubMed for previously published PRSCC cases. Immunostaining, human papillomavirus (HPV) testing, and targeted DNA and RNA sequencing were performed.
A total of 25 cases of PRSCC were analyzed. The mean age was 54.3 years, with the majority being women. They presented with pain in the lower abdomen, pelvis, and lower extremities; deep vein thrombosis; urinary symptoms; hydronephrosis; and ureteral obstruction. Treatment modalities included chemotherapy, radiation therapy, and concurrent chemoradiotherapy, with varying outcomes. HPV DNA was detected in most cases, with tumors exhibiting diffuse p16 positivity. Additionally, two patients carried a hotspot E545K mutation in phosphatidylinositol-4,5-bis-phosphate 3-kinase catalytic subunit alpha (PIK3CA).
This study provides insights into the clinico-pathological features of PRSCC and identified a novel recurrent PIK3CA mutation in HPV-associated PRSCCs. Our findings suggest the potential utility of next-generation sequencing for identifying therapeutic targets. Further studies are warranted to clarify whether PIK3CA E545K mutation has diagnostic and therapeutic potential in patients with PRSCC.
背景/目的：原发性腹膜后鳞状细胞癌（PRSCC）极为罕见，其诊断和治疗颇具挑战性。既往报道强调了人乳头瘤病毒（HPV）在PRSCC发病机制中的潜在作用。本研究旨在确定PRSCC的临床病理和分子特征。
我们在PubMed上检索了既往发表的PRSCC病例。进行了免疫染色、人乳头瘤病毒（HPV）检测以及靶向DNA和RNA测序。
共分析了25例PRSCC病例。平均年龄为54.3岁，大多数为女性。患者表现为下腹、盆腔和下肢疼痛；深静脉血栓形成；泌尿系统症状；肾积水；以及输尿管梗阻。治疗方式包括化疗、放疗和同步放化疗，疗效各异。大多数病例检测到HPV DNA，肿瘤呈现弥漫性p16阳性。此外，两名患者在磷脂酰肌醇-4,5-二磷酸3-激酶催化亚基α（PIK3CA）中携带热点E545K突变。
本研究深入了解了PRSCC的临床病理特征，并在HPV相关的PRSCC中鉴定出一种新的复发性PIK3CA突变。我们的研究结果表明下一代测序在识别治疗靶点方面具有潜在效用。有必要进一步研究以阐明PIK3CA E545K突变在PRSCC患者中是否具有诊断和治疗潜力。
