This study assessed the clinical presentation, diagnosis, and outcomes of patients presenting with acute scrotal pain as an adult emergency who underwent scrotal exploration. A retrospective review was conducted at Korle Bu Teaching Hospital, Ghana, over 5 years. Sixty-one patients aged 10-72 years (median 21) were included. Clinical findings, use of Doppler ultrasound, operative findings, and outcomes were analysed. Testicular torsion was confirmed in 44 patients (72.1%). Clinical evaluation alone achieved a diagnostic accuracy of 74%, while Doppler ultrasound, performed in 55.7% of cases, showed 88.5% sensitivity for torsion. Orchidectomy was required in 39.3% due to gangrenous testes, while 32.8% had viable testes salvaged. Delayed presentation (>72 h) was strongly associated with testicular gangrene (χ2 = 31.47, p < 0.00001). Delayed presentation reduces testicular salvage, and in resource-limited settings, careful clinical examination remains central to diagnosing suspected torsion and guiding timely surgical intervention.

Penile fracture is arguably a man’s worst sexual nightmare. It occurs when there is a tear in the tunica albuginea of the corpora cavernosa. This condition is significantly typified by the late presentation of patients to the hospital due to fear and embarrassment. Although the available literature has fairly elucidated on the aetiology of the disease, very few have objectively evaluated its impact on sexual function. In this series, we examine the impact of these fractures on sexual function after surgical repair using objective erectile function assessment tools. This case series focused on the impact on sexual function following penile fracture repair at the Korle Bu Teaching Hospital. Data was collected between 1st January and 31st December, 2021. Nine (9) patients were evaluated and managed over the period. The mean age at presentation was 41.11 ± 11.46 years (range 25–61 years).Patient 1, an African male, 61 years of age presented 72 h after sustaining the penile fracture. The second patient, Patient 2, African male, 32 years, presented 48 h after the event. Patient 3, African male, 25 years, presented after 5 h. Other patients, Patient 4, an African male, 41 years, Patient 5, African male, 29 years, Patient 6, African male, 41 years, Patient 7, African male, 41 years, Patient 8, African male, 53 years and Patient 9, African male, 46 years presented 24 h, 9 h, 14 h, 3 h, 12 h and 14 h respectively after the event. Penile fractures were sustained during sexual intercourse (78

Eosinophilic solid and cystic renal cell carcinoma (ESCRCC) is a rare entity recently included in the world health organization classification of kidney tumors. Due to its indolent behavior and insufficient characterization, it is often misdiagnosed. This report describes the case of a 28-year-old Ghanaian female who presented with a 1-year history of a gradually enlarging, initially painless right flank mass detected on self-examination, without any hematuria. A contrast-enhanced abdomino-pelvic computerized tomography scan demonstrated a well-defined, heterogeneously enhancing mixed solid and cystic lesion measuring 9.9 × 7.3 × 9.0 cm arising from the interpolar region of the right kidney. She had open radical right nephrectomy. Post-operative pathological immunohistochemical staining diagnosed ESCRCC. She is currently doing well after 8 months with no concern for metastasis. Initial misdiagnosis could negatively impact patient outcome and therefore underscores the need for early and definitive diagnosis of ESCRCC.

BACKGROUND:Benign prostatic hyperplasia (BPH) commonly presents with lower urinary tract symptoms (LUTS), which can significantly impair quality of life in aging men. Tamsulosin, a selective alpha-1 blocker, is widely used for symptom relief. Tadalafil, a phosphodiesterase-5 inhibitor, offers dual benefit for LUTS and erectile dysfunction (ED). However, limited comparative data exist from African populations. OBJECTIVE:To compare the efficacy and safety of tadalafil and tamsulosin monotherapy in the management of LUTS due to BPH in men attending a tertiary hospital in Ghana. METHODS:This prospective, randomized, open-label study was conducted over 12 weeks at the Korle-Bu Teaching Hospital. Eighty-two men aged ⩾40 years with moderate to severe LUTS due to BPH were randomized to receive either tadalafil 5 mg or tamsulosin 0.4 mg daily. Baseline, 4-week, and 12-week evaluations included International Prostate Symptom Score (IPSS), quality of life (QoL), peak urinary flow rate (Qmax), post-void residual urine (PVR), and International Index of Erectile Function (IIEF-5). Statistical analyses included t-tests and linear regression. RESULTS:Both groups showed significant improvement in IPSS, QoL, Qmax, and PVR over time. At 12 weeks, Qmax was significantly higher in the tadalafil group compared to tamsulosin (18.7 ± 4.5 vs 16.9 ± 2.6 mL/s, p = 0.045). IPSS improvement was similar across both arms (Tadalafil: -9.3; Tamsulosin: -7.8). Tadalafil significantly improved IIEF-5 scores from 14.0 to 21.0 (p < 0.001), whereas tamsulosin showed minimal change. Subgroup analysis showed tadalafil's erectile function benefit was consistent across demographic and clinical subgroups except in diabetics. Side effects were mild (5.1%) and equally distributed between groups. CONCLUSION:Tadalafil and tamsulosin are both effective in alleviating LUTS due to BPH. Tadalafil provides additional benefits in erectile function and superior improvement in urinary flow, making it a suitable first-line option, especially for patients with coexisting ED. These findings support individualized treatment decisions based on patient profile and symptom burden in resource-limited settings.

We conducted a multi-ancestry genome-wide association study of prostate-specific antigen (PSA) levels in 296,754 men (211,342 European ancestry; 58,236 African ancestry; 23,546 Hispanic/Latino; 3,630 Asian ancestry; 96.5% of participants were from the Million Veteran Program). We identified 318 independent genome-wide significant (p≤5e-8) variants, 184 of which were novel. Most demonstrated evidence of replication in an independent cohort (n=95,768). Meta-analyzing discovery and replication (n=392,522) identified 447 variants, of which a further 111 were novel. Out-of-sample variance in PSA explained by our new polygenic risk score reached 16.9% (95% CI=16.1%-17.8%) in European ancestry, 9.5% (95% CI=7.0%-12.2%) in African ancestry, 18.6% (95% CI=15.8%-21.4%) in Hispanic/Latino, and 15.3% (95% CI=12.7%-18.1%) in Asian ancestry, and lower for higher age. Our study highlights how including proportionally more participants from underrepresented populations improves genetic prediction of PSA levels, with potential to personalize prostate cancer screening.

Introduction This study addresses the global controversy over routine bone scans for newly diagnosed prostate cancer patients, focusing on the Ghanaian population. It aims to assess the predictive value of prostate-specific antigen (PSA) for bone metastasis and the role of serum alkaline phosphatase (ALP) in enhancing prediction. Methods This study was conducted at Korle Bu Teaching Hospital over 14 months and included 258 treatment-naïve prostate cancer patients. Clinical evaluation, PSA and ALP tests, and technetium-99 bone scans were performed. Chi-square and t-tests identified significant predictors of bone metastasis. The predictors were regressed logistically into a model, which was validated, trained, updated, and programmed into a digital risk calculator. All analysis was at a 0.05 significance level. Findings The mean age of participants was 68.18 ± 7.34 years (68.83 and 67.77 years for the metastatic and non-metastatic groups, respectively). Increasing PSA (OR=4.59, p<0.001), ALP (OR=4.24, p<0.001), DRE risk group (OR=1.60, p<0.05), and International Society of Urological Pathology (ISUP) (OR=1.72, p<0.05) were associated with increasing risk of bone metastasis. A two-unit rise along the D-Amico risk strata was associated with a 28-fold increase in the odds of metastasis (low risk vs high risk, OR=29.56, p<0.001; low risk vs intermediate risk, OR=2.80, p=0.368). Among participants with more than 30% of their core-biopsy volume involved with adenocarcinoma, 54.0% had bone metastasis (OR=1.33, p=0.06). Also, 57% of those with perineural invasion had bone metastasis (OR=4.0, p=0.01). Perivascular invasion was not a statistically significant predictor (p=0.346). All patients with cribriform pattern histology had bone metastasis (100%; OR=9.40, p=0.04). Of those with bone pain, 48.4% had bone metastasis (OR=2.25, p=0.002). PSA and ALP exhibited strong independent associations with bone metastasis, with PSA outperforming other predictors (AUC under ROC curve of 81.65% vs 77.97% for ALP, 69.73% for DRE, and 79.19% for ISUP. On multivariate logistic regression, the combined AUC for PSA and ALP was 89.28%, while that for combined PSA, ALP, DRE, and ISUP was 92.3%). A PSA cut-off of 18.95 ng/mL or an ALP cutoff of 59.48 IU/L, individually, detected 97.5% of bone metastasis. Combining a PSA cut-off of 20.85 ng/mL with an ALP cut-off of 44.0 IU/L yielded a 100% detection rate, while PSA above 20 ng/mL, DRE >T2c, and Gleason score >7 predicted 95% of bone metastasis in this cohort. In a logistic regression model, ALP, ISUP, and DRE stage significantly improved the bone metastasis detection rate of PSA in prostate cancer (z-statistic gain at p=0.05 was 2.41; new AUC=92.29%). The inclusion of bone pain, cribriform pattern histology, perineural invasion, and percentage core involvement of adenocarcinoma yielded just marginal gains (maximum z-statistic gain at p=0.05 was 0.61; new AUC: 93.90%). Conclusion For high-risk prostate cancer, bone scans are recommended. In Ghana, a PSA cut-off of 18.95 ng/mL could safely exclude 20% of bone scans, missing only 2.5% of bone metastases, saving $170 per patient ($55,000 nationally per year). Combining this with an ALP cut-off of 44.0 IU/L (0% false-negative rate) detects 100%. A validated risk model combining PSA, ALP, ISUP, and DRE achieves an AUC of 92.3%, sensitivity of 89.9%, specificity of 78.8%, and accuracy of 85.6%, offering a practical, digitally deployed, decision support tool.

Androgenetic alopecia is a highly heritable trait. However, much of our understanding about the genetics of male-pattern baldness comes from individuals of European descent. Here, we examined a dataset comprising 2,136 men from Ghana, Nigeria, Senegal, and South Africa that were genotyped using the Men of African Descent and Carcinoma of the Prostate Array. We first tested how genetic predictions of baldness generalize from Europe to Africa and found that polygenic scores from European genome-wide association studies (GWASs) yielded area under the curve statistics that ranged from 0.513 to 0.546, indicating that genetic predictions of baldness generalized poorly from European to African populations. Subsequently, we conducted an African GWAS of androgenetic alopecia, focusing on self-reported baldness patterns at age 45. After correcting for age at recruitment, population structure, and study site, we identified 266 moderately significant associations, 51 of which were independent (p < 10-5, r2 < 0.2). Most baldness associations were autosomal, and the X chromosome does not seem to have a large impact on baldness in African men. Although Neanderthal alleles have previously been associated with skin and hair phenotypes, within the limits of statistical power, we did not find evidence that continental differences in the genetic architecture of baldness are due to Neanderthal introgression. While most loci that are associated with androgenetic alopecia do not have large integrative haplotype scores or fixation index statistics, multiple baldness-associated SNPs near the EDA2R and AR genes have large allele frequency differences between continents. Collectively, our findings illustrate how population genetic differences contribute to the limited portability of polygenic predictions across ancestries.

Giant prostate hyperplasia is defined as prostate hyperplasia with a weight greater than 500 grams. This condition is rare. We present the management of a case of giant prostate hyperplasia (541 grams on CT scan) with a surgical enucleated volume of 800 grams in a patient who presented with haematuria. An abdominal-pelvic CT scan was required to differentiate it from a suspected bladder tumour. This case was successfully managed with a favourable outcome following open transvesical prostatectomy, ensuring minimal blood loss. This case report and review provide an update on the management of giant prostate hyperplasia, with emphasis on the prevention and management of haemorrhage.

Prostate cancer is one of the leading causes of cancer morbidity and mortality among men worldwide, with heightened rates in Western, Central and Southern Africa, and the Caribbean. Although few risk factors have been identified, studies have shown positive associations with exposure to persistent organochlorine pesticides (OCPs) and aggressive prostate cancer. Few studies have yet been conducted in Africa despite the greater burden of prostate cancer and continued OCP use for vector control. Here we described predictors of serum levels of OCPs in 300 prostate cancer cases and 300 population-based controls from Ghana. Serum concentrations of three DDT (dichlorodiphenyltrichloroethane) metabolites were measured: p,p’-dichlorodiphenyldichloro-ethylene(pp’-DDE), p,p'-dichlorodiphenyltrichloroethane(pp’-DDT), and o,p’-dichlorodiphenyltrichloroethane(op’-DDT). Chi-Square tests were used to examine the relationship between quartiles of DDT and demographic/lifestyle factors in controls. Levels were reported in cancer cases by clinical factors, including high-grade (Gleason≥8) and advanced stage (T3 or T4) disease. Among 300 controls, the geometric means (and percent detected) of pp’-DDE, pp’-DDT, and op’-DDT were at 737.6 ng/g lipid (99.7% detect), 48.4 ng/g lipid (95.6% detect), and 16.7 ng/g lipid (45.3% detect), respectively. Increasing BMI was associated with higher serum levels of pp’-DDE and pp’-DDT (chi-square p-value=0.064 and 0.002, respectively). Among prostate cancer cases, higher mean levels of pp’-DDE were observed in men with high-grade compared to low-grade disease (1109.3 ng/g lipid vs. 760.4 ng/g lipid, p-value=0.038) and in men with advanced disease (1139.2 ng/g lipid vs. 838.7 ng/g lipid, p=value=0.028). OCPs are a class of insecticides that are banned in most countries due to their slow degradation and ability to bioaccumulate. Measurable levels of DDT were abundant in serum samples in men from Ghana (pp’-DDE =737.6 ng/g lipid vs. 262 ng/g lipid and nondetectable op’-DDT in Black men in the U.S. as reported by the 2003-2004 National Health and Nutrition Examination Survey), suggesting ongoing exposure. Consistent with reports that DDT is highly fat soluble, higher BMI was associated with higher serum concentrations. Serum levels of pp’-DDE were higher for those with aggressive prostate cancer, offering evidence of a plausible link between exposure and aggressive prostate cancer risk in Africa. Results from the ongoing case-control analysis will be presented. Deborah A. Tadesse, Lauren M. Hurwitz, Richard B. Biritwum, Yao Tettey, Andrew Adjei, Evelyn Tay, Andreas Sjodin, Richard Jones, Mark Davis, Florence Menegaux, Mustapha Abubakar, Evans A. Akpakli, Kenneth Klufio, James E. Mensah, Sonja Berndt, Stella Koutros. Serum organochlorine insecticide concentrations and risk of aggressive prostate cancer [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2025; Part 1 (Regular Abstracts); 2025 Apr 25-30; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2025;85(8_Suppl_1):Abstract nr 3589.

Introduction:Penile fracture is a rare yet urgent urological condition, predominantly diagnosed through careful history-taking and clinical examination. This study aims to share our institutional experience in managing this condition at a tertiary referral centre. Materials and Methods:A retrospective analysis was performed on 17 cases of penile fracture over 30 months. Investigated parameters included the mechanism of injury, patient age, time to presentation, intra-operative findings, presence of urethral involvement, length of hospital stay, complications, and post-operative erectile function as assessed by the International Index of Erectile Function-5 questionnaire. Results:The average age of the patients was 36.9 years. Patients presented on average within 29 h post-injury, and the mean duration of long-term follow-up was 14.3 months. Most cases (76.5%) involved the right corpus cavernosum, 58.8% affected the proximal penile shaft, and 70.6% impacted the ventral aspect of the penis. Post-operative complications included wound infections in 17.6% of patients, mild penile curvature (<30°), painful sexual intercourse in 23.5% of cases, and mild erectile dysfunction evident in 41.2% of patients. Conclusion:Prompt diagnosis and immediate surgical intervention for penile fractures are crucial for reducing complications and preserving both erectile and voiding functions. The data supports the notion that timely surgical management is particularly beneficial in minimising long-term functional deficits.

Purpose of the study: This study aims to determine the role of serum prostate-specific antigen (PSA) levels and digital rectal examination (DRE) in predicting the histological outcomes of prostate biopsies by analyzing a database of over 7000 patients who underwent transrectal ultrasound (TRUS)-guided prostate biopsies. Methods: We conducted a retrospective analysis of men who underwent TRUS-guided prostate biopsies at Korle Bu Teaching Hospital, a tertiary referral center in Accra, Ghana, from July 2005 to December 2022. The biopsies, which included 10 to 12 core samples, were prompted by PSA levels greater than 4.0 ng/mL, abnormal DRE findings, or both. We then correlated histopathology results with PSA and DRE findings. Results: Out of 7,338 patients who presented for biopsy, 76.3% were between the ages of 60 and 79. Histology reports were available for 5,289 patients, of whom 2,564 (48.5%) were diagnosed with prostate cancer. Cancer detection rates based on PSA levels were as follows: 21.6% for PSA <4 ng/mL, 21.7% for PSA 4-10 ng/mL, 32.7% for PSA 10-20 ng/mL, 53.0% for PSA 20-50 ng/mL, 71.5% for PSA 50-100 ng/mL, and 92.0% for PSA >100 ng/mL. When DRE findings were classified according to the 2016 TNM System (AJCC 8th Edition) as T1, T2, T3, and T4, cancer detection rates were 26.8%, 51.8%, 87.6%, and 95.7%, respectively. The overall cancer detection rate was significantly higher with abnormal DRE findings (64.6% vs. 26.7%, p < 0.001). Additionally, 78.2% of the detected cancers were high-grade (Gleason score of 7 or more). Conclusion: This extensive study of Ghanaian men undergoing TRUS biopsies reveals a high prostate cancer detection rate, with nearly 80% of the detected cancers being high-grade. These findings underscore the importance of PSA and DRE in the early detection of prostate cancer and should be considered in patient counseling and discussions regarding the implementation of prostate cancer screening programs in this population.

Although a notable proportion of patients report improvement in clinical outcomes following transurethral resection of the prostate (TURP), symptoms persist in about 25

BACKGROUND AND OBJECTIVE:The impact of germline pathogenic variants (PVs) in cancer predisposition genes on risk of prostate cancer (PCa) remains understudied in large populations of African ancestry. This study aims to characterize the range of genetic risk of PCa and aggressive disease phenotypes in men of African ancestry. METHODS:We analyzed 7176 PCa cases and 4873 controls from seven countries across North America and Africa to assess the association between PVs in 37 cancer predisposition genes and the risk of overall, aggressive, and metastatic PCa. Genes significantly associated with PCa risk were used to estimate lifetime absolute risk based on family history, polygenic risk score (PRS), and PV carrier status. KEY FINDINGS AND LIMITATIONS:PVs in ATM, BRCA2, CHEK2, HOXB13, and PALB2 were presented in 4% of aggressive/metastatic PCa cases and were significantly associated with an increased risk of aggressive PCa (odds ratio 2.18-5.96, p < 0.05). Lifetime absolute risk varied widely depending on PV carrier status, PRS, and family history, ranging from 3.0% to 74% for overall PCa, 0.6% to 41% for aggressive PCa, and 0.2% to 37% for metastatic PCa. PV carriers with a positive family history and a PRS in the 90th percentile had seven, 18, and 34 times the risks of overall, aggressive, and metastatic PCa, respectively, compared with average-risk individuals. Oversampling of aggressive cases may limit the generalizability of these findings to screening populations. CONCLUSIONS AND CLINICAL IMPLICATIONS:Integration of PV status, PRS, and family history enables more refined PCa risk estimates. The wide range of PCa risk observed among men of African ancestry in our study supports future prospective studies in the development of risk-stratified cancer screening programs to identify high-risk individuals who may benefit from screening at an earlier age.

Men of African descent have the highest prostate cancer incidence and mortality rates, yet the genetic basis of prostate cancer in African men has been understudied. We used genomic data from 3,963 cases and 3,509 controls from Ghana, Nigeria, Senegal, South Africa and Uganda to infer ancestry-specific genetic architectures and fine-map disease associations. Fifteen independent associations at 8q24.21, 6q22.1 and 11q13.3 reached genome-wide significance, including four new associations. Intriguingly, multiple lead associations are private alleles, a pattern arising from recent mutations and the out-of-Africa bottleneck. These African-specific alleles contribute to haplotypes with odds ratios above 2.4. We found that the genetic architecture of prostate cancer differs across Africa, with effect size differences contributing more to this heterogeneity than allele frequency differences. Population genetic analyses reveal that African prostate cancer associations are largely governed by neutral evolution. Collectively, our findings emphasize the utility of conducting genetic studies that use diverse populations. Genome-wide association analyses of prostate cancer in men from sub-Saharan Africa identify population-specific risk variants and regional differences in effect sizes. Founder effects contribute to continental differences in the genetic architecture of prostate cancer.

Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder and the fourth cause of death of end-stage renal disease. The disease has a prevalence of 1:400–1:1000 accounting for 10% of patients on dialysis. In most ADPKD patients, bilateral kidneys are similarly affected, with numerous fluid-filled cysts arising from different nephron segments. Only a few cases of ADPKD with ectopic unilateral multicystic kidney have been reported. It has been observed that the deterioration of their kidney function seemed to be quicker than their age- and sex-matched controls and siblings especially when the ectopic kidney is dysplastic. Case presentation We report a case of a 46-year-old Ghanaian male patient who presented with left flank pain and hematuria with high BP and deranged renal function. Abdominal ultrasonography showed both kidneys to be larger than normal and had multiple cysts of varying sizes with the right kidney located in the right iliac fossa. Follow up Abdominopelvic computer tomographic scan (CT–Scan) without contrast showed enlarged kidneys with the renal parenchyma replaced by innumerable cyst of varying sizes. The right kidney was ectopically located in the right aspect of the pelvis. A diagnosis of ADPKD with right pelvic ectopic multicystic kidney was made. He was put on antihypertensives, analgesia for the left flank pain and to have follow up at the urology and nephrology departments. Conclusion In most ADPKD patients, bilateral kidneys are similarly affected. Only a few cases of ADPKD with ectopic unilateral multicystic kidney have been reported. It has been observed that the deterioration of their kidney function seemed to be quicker than their age- and sex-matched controls and siblings especially when the ectopic kidney is dysplastic.

PURPOSEProstate cancer disproportionately affects men of African descent, yet their representation in tissue-based studies is limited. This multinational, multicenter pilot study aims to establish the groundwork for collaborative research on prostate cancer in sub-Saharan Africa.METHODSThe Men of African Descent and Carcinoma of the Prostate network formed a pathologist working group representing eight institutions in five African countries. Formalin-fixed paraffin-embedded prostate tissue specimens were collected from Senegal, Nigeria, and Ghana. Histology slides were produced and digitally scanned. A central genitourinary pathologist (P.L.) and eight African general pathologists reviewed anonymized digital whole-slide images for International Society of Urological Pathology grade groups and other pathologic parameters. Discrepancies were re-evaluated, and consensus grading was assigned. A virtual training seminar on prostate cancer grading was followed by a second assessment on a subcohort of the same tissue set.RESULTSOf 134 tissue blocks, 133 had evaluable tissue; 13 lacked cancer evidence, and four were of insufficient quality. Post-training, interobserver agreement for grade groups improved to 56%, with a median Cohen's quadratic weighted kappa of 0.83 (mean, 0.74), compared with an initial 46% agreement and a quadratic weighted kappa of 0.77. Interobserver agreement between African pathologist groups was 40%, with a quadratic weighted kappa of 0.66 (95% CI, 0.51 to 0.76). African pathologists tended to overgrade (36%) more frequently than undergrade (18%) compared with the reference genitourinary pathologist. Interobserver variability tended to worsen with a decrease in tissue quality.CONCLUSIONTissue-based studies on prostate cancer in men of African descent are essential for a better understanding of this common disease. Standardized tissue handling protocols are crucial to ensure good tissue quality and data. The use of digital slide imaging can enhance collaboration among pathologists in multinational, multicenter studies.

Burkitt lymphoma (BL) is responsible for many childhood cancers in sub-Saharan Africa, where it is linked to recurrent or chronic infection by Epstein-Barr virus or Plasmodium falciparum . However, whether human leukocyte antigen ( HLA ) polymorphisms, which regulate immune response, are associated with BL has not been well investigated, which limits our understanding of BL etiology. Here we investigate this association among 4,645 children aged 0-15 years, 800 with BL, enrolled in Uganda, Tanzania, Kenya, and Malawi. HLA alleles are imputed with accuracy >90% for HLA class I and 85-89% for class II alleles. BL risk is elevated with HLA-DQA1*04:01 (adjusted odds ratio [OR] = 1.61, 95% confidence interval [CI] = 1.32-1.97, P = 3.71 × 10 −6 ), with rs2040406(G) in HLA-DQA1 region (OR = 1.43, 95% CI = 1.26-1.63, P = 4.62 × 10 −8 ), and with amino acid Gln at position 53 versus other variants in HLA-DQA1 (OR = 1.36, P = 2.06 × 10 −6 ). The associations with HLA-DQA1*04:01 (OR = 1.29, P = 0.03) and rs2040406(G) (OR = 1.68, P = 0.019) persist in mutually adjusted models. The higher risk rs2040406(G) variant for BL is associated with decreased HLA-DQB1 expression in eQTLs in EBV transformed lymphocytes. Our results support the role of HLA variation in the etiology of BL and suggest that a promising area of research might be understanding the link between HLA variation and EBV control.

Background: Many studies have reported on trifecta outcomes after radical prostatectomy. There is however paucity of studies that compares the trifecta outcome between screen detected and patients presenting with lower urinary symptoms with localized prostate cancer after radical prostatectomy. This study compares the trifecta outcomes between these two groups after an open retropubic radical prostatectomy. Methodology: This is a retrospective study, on the trifecta outcomes (urinary continence, erectile function, and cancer control) of consecutive patients that had open radical retropubic prostatectomy for localized prostate cancer by a single surgeon. Patients were grouped into screen detected and presentation with lower urinary symptoms or retention of urine. The parameters considered were the age of the patients, the total prostate specific antigen (tPSA) at presentation, the clinical T stage, the Gleason score of prostate biopsies, the risk categories using the D’Amico risk groups and the trifecta outcomes after the procedure. Results: In all, 119 patients met the criteria for inclusion. The median follow up was 63.5 months (range 12 - 156 months). Of these 40.3% of the patients were diagnosed through screening with elevated PSA while 59.7% had presented with symptoms of lower urinary tract obstruction. The mean age for the patients was 60.8 ± 6.5 years, median PSA 12.6 ng/ml (IQR 8.6 - 19.7) and median prostate weight of 50.0 (IQR 40.0 - 60 g). The urinary continence rate after the procedure was 93.3%, erection rate of 81.5%, cancer control rate of 71.4% and trifecta achieved in 57.1%. Comparing the screening and the symptomatic cases, the urinary continence rate was 91.7% vrs 94.3%; erectile function rate was 79.2% vrs 83.1%; cancer control 68.8% vrs 73.2% and trifecta achieved in 58.3% vrs 56.3%. There was no statistically significant difference between the two groups in terms of urinary continence p = 0.564, erection function p = 0.588, cancer control p = 0.595, and achieving trifecta p = 0.829. Conclusion: Patients with localized prostate cancer presenting with lower urinary symptoms compared to screen detected patients have similar outcomes in terms of urinary Continence, erectile function, cancer control and trifecta after open radical retropubic prostatectomy.

This .xlsx file lists Axiom genotyping solution QC thresholds. Genotyping metrics for both pegs of the MADCaP Array are listed here. This file also includes Benjamini-Hochberg adjusted p-values (FDR = 5%) for pairwise comparisons of derived allele frequencies, ancestry proportions of cases and controls, cumulative runs of homozygosity, and PRS distributions.

Background: There is a growing body of evidence supporting the contributions of germline rare variants to the susceptibility of prostate cancer (PCa), especially aggressive PCa. Our previous exome sequencing analysis highlighted 36 aggressive PCa candidate genes in populations of European ancestry. Here we investigated whether rare germline pathogenic, likely pathogenic, or deleterious (P/LD/D) variants in these genes were associated with overall and aggressive PCa risk in men of African ancestry. Methods: This exome sequencing analysis consists of 7,176 prostate cancer cases and 4,873 controls from the Research on Prostate Cancer in Men of African Ancestry (RESPOND) study. Among the PCa cases, 3,283 are aggressive cases (tumor stage T3/T4, regional lymph node involvement, metastatic disease, Gleason score >= 8.0, prostate-specific antigen [PSA] level >= 20 ng/mL or PCa as the underlying cause of death) including 1,074 metastatic cases, and 1,752 are non-aggressive cases (Gleason score ⇐ 7.0, PSA < 20 ng/mL, and tumor stage T1/T2). P/LP/D variants analyzed were rare (minor allele frequency < 1% in controls) and had either a Variant Effect Predictor impact score of “high” or a pathogenic or likely pathogenic ClinVar classification. The association between P/LP/D carrier status with risk of overall PCa, aggressive PCa, and metastatic PCa was evaluated in logistic regression models, adjusting for age and the top ten principal components. All statistical tests are two-sided. Results: Of the 36 PCa candidate genes, BRCA2 was the most frequently affected gene, with 1.7% of cases and 1.1% of controls harboring a germline P/LP/D variant, followed by MUTYH (1.5%/1.3%) ATM (0.93%/0.49%), MSH5 (0.70%/0.51%) and HOXB13 (0.70%/0.35%). Nominally significant associations with overall PCa were observed for ATM (OR=1.83, 95% CI=1.14-2.92, P=0.012), BRCA2 (OR=1.52, 95% CI=1.10-2.10, P=0.011), HOXB13 (OR=2.10, 95% CI=1.12-3.66, P=0.008), and PALB2 (OR=3.46, 95% CI=1.18-10.1, P=0.02). In case-case analyses (aggressive vs. non-aggressive cases), the association with aggressive PCa was nominally significant for ATM (OR=5.10, 95% CI=1.96-13.3, P=8.7 × 10−4) and BRCA2 (OR=2.00, 95% CI=1.19-3.38, P=0.009) and was suggestive for PALB2 (OR=2.99, 95% CI=0.83-10.7, P=0.09). Similar associations with metastatic PCa were also observed for these three genes. Conclusion: The associations of BRCA2, ATM, and PALB2 with overall PCa and aggressive PCa observed in men of African ancestry are consistent with findings from our previous study in men of European ancestry. These findings further support the importance of these genes in the consideration of screening and active surveillance for high-risk and advanced disease. Citation Format: Fei Chen, Burcu F. Darst, Xin Sheng, Anqi Wang, Yili Xu, Raymond Hughley, Ben Adusei, Mohamed Jalloh, Serigne Magueye Gueye, Andrew A. Adjei, James Mensah, Pedro W. Fernandez, Akindele O. Adebiyi, Oseremen Aisuodionoe-Shadrach, Lindsay Petersen, Maureen Joffe, Jo McBride, Jeannette T. Bensen, James L. Mohler, Jack A. Taylor, Eboneé N. Butler, Sue A. Ingles, Benjamin A. Rybicki, Janet L. Stanford, Wei Zheng, Sonja I. Berndt, Chad D. Huff, Joseph Lachance, Luc Multigner, Caroline Andrews, Timothy R. Rebbeck, Laurent Brureau, Stephen J. Chanock, David V. Conti, Christopher A. Haiman. Association of prostate cancer candidate genes with overall and aggressive prostate cancer in men of African ancestry [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 1182.