PO.PS01.02 · 人群科学
波多黎各男性早发性前列腺癌的遗传学与临床特征：初步特征描述
Genetic and clinical profiles of early-onset prostate cancer in Puerto Rican men: A preliminary characterization
作者与单位 Authors & Affiliations
摘要 Abstract
中文摘要
背景：前列腺癌（PCA）是美国男性癌症相关死亡的第二大原因。早发性前列腺癌（EOPCa）约占所有PCA诊断的10%，2021年全球报告约58,694例新发病例。尽管EOPCa在病例中占比不断增长，但其研究仍不充分。年轻患者常表现出独特的临床特征、遗传易感性和长期生存挑战。西班牙裔/拉丁裔男性，尤其是来自波多黎各的男性，在发病率和结局方面存在差异，但在PCA研究中仍代表性不足。更好地了解波多黎各EOPCa男性的流行病学、临床和胚系遗传特征，对于指导风险分层和为精准医学策略提供信息至关重要。
方法：本研究回顾性地从2020-2025年间在波多黎各南部一家三级医院接受PCA治疗的9,393例患者中识别出80例EOPCa病例。收集了人口统计学、临床病理学变量，包括年龄、PSA、BMI、Gleason评分（GS）、肿瘤分期、家族史、生活方式因素和治疗。分析了胚系基因检测结果，并将变异分类为致病性、意义未明变异（VUS）或良性。计算了复发性改变的频率。
结果：识别出80例患者；39例符合纳入标准。年龄范围37-49岁（平均45.7岁）。诊断时PSA范围1.7-25.4 ng/mL（平均6.2）。近半数（48.7%）为肥胖（BMI≥30）。活检时，GS 6最常见（56.4%）；前列腺切除术后（占87.2%的病例），GS 6仍最常见（50.0%），其次为GS 8（23.5%）。以T2期（55.9%）和T3期（23.5%）为主。38.0%报告有PCA家族史。大多数患者饮酒（76.9%），但否认吸烟（71.8%）。胚系检测发现10.3%为致病性变异、35.9%为VUS、5.1%为携带者，其余为阴性。总共检测到21个改变：15个VUS、5个致病性和1个良性。这些改变分布于15个基因，复发性发现见于RECQL4（n=3）、POLD1（n=3）、ATM（n=2）和TMEM127（n=2）。
结论：本研究首次描述了波多黎各EOPCa的流行病学、临床和胚系遗传特征。研究结果凸显了胚系改变的显著负担，并强调了将基因检测纳入临床管理的重要性。扩大对代表性不足人群的研究，对于指导早期检测、优化预后判断和减少PCA差异至关重要。
查看英文原文 English abstract
Background: Prostate cancer (PCA) is the second leading cause of cancer-related death among men in the US. Early-onset prostate cancer (EOPCa) accounts for ~10% of all PCA diagnoses, with an ~58,694 new cases reported worldwide in 2021. Although EOPCa accounts for a growing proportion of cases, it remains underexplored. Younger patients often present with distinct clinical features, hereditary predispositions, and long-term survivorship challenges. Hispanic/Latino men, particularly those from Puerto Rico, experience disparities in incidence and outcomes, yet remain underrepresented in PCA research. A better understanding of the epidemiological, clinical, and germline genetic profile of Puerto Rican men with EOPCa is essential to guide risk stratification and inform precision medicine strategies.
Methods: This study retrospectively identified 80 cases of EOPCa of 9,393 patients treated for PCA between 2020-2025 in a tertiary hospital in southern PR. Demographic, clinicopathological variables were collected, including age, PSA, BMI, Gleason score (GS), tumor stage, family history, lifestyle factors, and treatments. Germline genetic testing results were analyzed and variants classified as pathogenic, variants of uncertain significance (VUS), or benign. Frequencies of recurrent alterations were calculated.
Results: Eighty patients were identified; 39 met the inclusion criteria. Age ranged 37-49 years (mean 45.7). PSA at diagnosis ranged 1.7-25.4 ng/mL (mean 6.2). Nearly half (48.7%) were obese (BMI ≥30). At biopsy, GS 6 was most frequent (56.4%); following prostatectomy (87.2% of cases), GS 6 remained most common (50.0%), followed by GS 8 (23.5%). Stage T2 (55.9%) and T3 (23.5%) predominated. Family history of PCA was reported by 38.0%. Most patients consumed alcohol (76.9%) but denied smoking (71.8%). Germline testing identified 10.3% pathogenic variants, 35.9% VUS, and 5.1% carriers, with the remainder negative. In total, 21 alterations were detected: 15 VUS, 5 pathogenic, and 1 benign. Alterations were distributed across 15 genes, with recurrent findings in RECQL4 (n=3), POLD1 (n=3), ATM (n=2), and TMEM127 (n=2).
Conclusions: This study provides the first characterization of the epidemiological, clinical, and germline genetic profile of EOPCa in Puerto Rico. Findings highlight a notable burden of germline alterations and underscore the importance of incorporating genetic testing into clinical management. Expanding research among underrepresented populations is critical to guide early detection, refine prognostication, and reduce PCA disparities.
利益披露 Disclosure
G. Alayón, None..
S. Bernaschina-Rivera, None..
N. Yordan-Fernandez, None..
J. Melendez-Ojeda, None..
G. Castro, None..
L. Godoy, None..
F. Benitez-Rios, None..
L. F. Rodríguez-Fernández, None..
C. M. Ortiz-Sanchez, None..
G. Ruiz-Deya, None.