The Fight Tumour Blindness Registry: Efficient capture of high-quality real-world data in uveal melanoma.

OBJECTIVE: To describe the development of a web-based data collection tool to track the management and outcomes of uveal melanoma patients. DESIGN: Description of a clinical registry. PARTICIPANTS: Patients with uveal melanoma. METHODS: A panel of expert ocular oncologists, with input from other relevant specialties and individuals with expertise in registry development, collaborated to formulate a minimum data set to be collected to track patient centred, real-world outcomes in uveal melanoma. This data set was used to create the Fight Tumour Blindness! (FTB!) registry within Save Sight Registries. RESULTS: The data set to be collected includes patient demographics and medical history, baseline visit, follow-up visit including tumour treatment, metastatic staging and surveillance, pathology, and patient-reported questionnaires. The inbuilt mechanisms to ensure efficient and complete data collection are described. CONCLUSIONS: The FTB! registry can be used to monitor outcomes for patients with uveal melanoma. It allows benchmarking of outcomes and comparisons between different clinics and countries.

Normal postvoid residual urine in healthy adults.

OBJECTIVE: To establish a normal reference value of postvoid residual (PVR) urine volume in "healthy" adults. METHODS: Adults were recruited to undergo uroflowmetry and PVR. Those with neurological disorders, malignancy, diabetes, known lower urinary tract dysfunction, and urinary tract infection within the previous 3 months, were excluded from the study. Constipation was defined as Rome IV ≥ 2. RESULTS: Of the 883 adults enrolled in this study, 194 (22.3%) did not complete the questionnaires or perform the uroflowmetry, 103 (11.7%) met ≥1 exclusion criteria and thus were excluded. In addition, 30 and 38 uroflowmetry were excluded due to artifacts and low bladder volume (BV) (<100 mL), respectively. Finally, 515 uroflowmetry and PVR data from adults aged 36-89 (mean: 59.0 ± 9.5) were examined. There was a significant nonlinear relationship between BV and PVR (p < 0.05), with PVR significantly increased when BV was around 528 mL. Women had lower PVR than men (p < 0.05). PVR also increased as the International Prostatic Symptom Score (IPSS) increased. PVR was unaffected by age and functional constipation. A multivariate analysis revealed that BV (p < 0.05) and IPSS (p < 0.05) had significant influence on PVR, but age, gender, and Rome IV score did not. The 90th and 95th percentiles of PVR for men were 73.2 mL (25% of BV) and 102.6 mL (30% of BV), respectively, while for women they were 60.5 mL (21% of BV) and 93.8 mL (27% of BV), respectively. CONCLUSION: Women had lower PVR than men. The 90th percentile or 95th percentile of normal adults' PVR may serve as the upper limit of normal PVR, and readings above this level may necessitate additional evaluation and treatment. Further studies are required to substantiate these recommendations.

Evaluation of deep learning for detecting intraosseous jaw lesions in cone beam computed tomography volumes.

OBJECTIVE: The study aim was to develop and assess the performance of a deep learning (DL) algorithm in the detection of radiolucent intraosseous jaw lesions in cone beam computed tomography (CBCT) volumes. STUDY DESIGN: A total of 290 CBCT volumes from more than 12 different scanners were acquired. Fields of view ranged from 6 × 6 × 6 cm to 18 × 18 × 16 cm. CBCT volumes contained either zero or at least one biopsy-confirmed intraosseous lesion. 80 volumes with no intraosseous lesions were included as controls and were not annotated. 210 volumes with intraosseous lesions were manually annotated using ITK-Snap 3.8.0. 150 volumes (10 control, 140 positive) were presented to the DL software for training. Validation was performed using 60 volumes (30 control, 30 positive). Testing was performed using the remaining 80 volumes (40 control, 40 positive). RESULTS: The DL algorithm obtained an adjusted sensitivity by case, specificity by case, positive predictive value by case, and negative predictive value by case of 0.975, 0.825, 0.848, and 0.971, respectively. CONCLUSIONS: A DL algorithm showed moderate success at lesion detection in their correct locations, as well as recognition of lesion shape and extent. This study demonstrated the potential of DL methods for intraosseous lesion detection in CBCT volumes.

Pediatric ocular melanoma: a collaborative multicenter study and meta-analysis.

PURPOSE: To investigate clinical manifestations and prognoses in pediatric patients (≤12 years old) with ocular melanoma. METHODS: This was a retrospective, multicenter cohort study with individual participant data (IPD) meta-analysis pooling available published cases, and unpublished cases from an international collaboration of seven ocular oncology centers. RESULTS: There were 133 eyes of 133 pediatric patients with choroidal or ciliary body (n = 66 [50%]), iris (n = 33 [25%]), conjunctival (n = 26 [19%]), and eyelid (n = 8 [6%]) melanoma. Overall, the mean patient age at presentation was 7 years (median, 8; range, 1-12 years), with 63 males (49%). The mean age by tumor site was 6.50 ± 3.90, 7.44 ± 3.57, 9.12 ± 2.61, and 5.63 ± 2.38 years, for choroid/ciliary body, iris, conjunctiva, and eyelid melanoma, respectively (P = 0.001). Association with ocular melanocytosis was seen in 15%, 11%, 4%, and 0%, respectively (P = 0.01). Frequency of ocular melanoma family history did not vary by tumor site (7%, 17%, 9% and 12%, resp. [P = 0.26]). After mean follow-up of 74, 85, 50, and 105 months (P = 0.65), metastasis was seen in 12%, 9%, 19%, and 13% of choroid/ciliary body, iris, conjunctiva, and eyelid melanoma, respectively. Death was reported in 5%, 3%, 8%, and 0%, respectively, with survival analysis indicating higher mortality in choroidal/ciliary body and conjunctival melanoma patients. CONCLUSIONS: Ocular melanoma in the pediatric population is rare, with unique clinical features and outcomes. Iris melanoma accounts for about one-third of pediatric uveal melanoma cases.

Lapatinib dysregulates HER2 signaling and impairs the viability of human uveal melanoma cells.

Uveal melanoma (UM) is the principal type of intraocular malignancy in adults. Up to 50% of UM patients develop metastatic disease with very poor survival. There are few drugs available to treat the primary or metastatic UM. This study was undertaken to evaluate the anti-cancer effect of lapatinib and corroborate the potential of HER2 inhibition in the treatment of UM. The anti-UM activity of lapatinib was assessed using cell viability, cell death and cell cycle analysis, and its anti-metastatic actions were evaluated using would healing, invasion and colony formation assays. Immunoblotting was used to substantiate the actions of lapatinib on apoptotic and HER2 signaling. The anti-UM activity of lapatinib was further evaluated in a UM xenograft mouse model. Lapatinib decreased the viability of four UM cell lines (IC50: 3.67-6.53 µM). The antiproliferative activity of lapatinib was corroborated in three primary cell lines isolated from UM patient tumors. In UM cell lines, lapatinib promoted apoptosis and cell cycle arrest, and strongly inhibited cell migration, invasion and reproductive cell growth. Lapatinib dysregulated HER2-AKT/ERK/PI3K signalling leading to the altered expression of apoptotic factors and cell cycle mediators in UM cell lines. Importantly, lapatinib suppressed tumourigenesis in mice carrying UM cell xenografts. Together the present findings are consistent with the assertion that HER2 is a viable therapeutic target in UM. Lapatinib is active in primary and metastatic UM as a clinically approved HER2 inhibitor. The activity of lapatinib in UM patients could be evaluated in future clinical trials.

Correction: Chua et al. Cost-Effectiveness Analysis of HPV Extended versus Partial Genotyping for Cervical Cancer Screening in Singapore. Cancers 2023, 15, 1812.

The authors wish to revise two words in Table 1 row 3, and the first paragraph of Section 2 [...].

Age- and gender-specific normal post void residual urine volume in healthy adolescents.

INTRODUCTION: Elevated post void residual (PVR) is a significant risk factor for urinary tract infections (UTI). It is also a significant predictor of treatment outcomes in cases of vesicoureteral reflux, pediatric enuresis, and non-neurogenic LUT dysfunction. However, the absence of age-specific nomograms for adolescents may limit PVR's use in clinical practice. OBJECTIVE: To establish age- and gender-specific normal PVR urine volume in adolescents. MATERIAL AND METHODS: Healthy adolescents aged 12-18 years were recruited to undergo two uroflowmetry and PVR studies whenever they felt the urge to urinate. Adolescents with neurological disorders, known LUT dysfunction or UTI were excluded. RESULTS: A total of 1050 adolescents were invited, but only 651 consented. Fourteen participants were excluded due to low bladder volume (BV < 100 ml) in both assessments (n = 12), BV < 100 ml in one assessment (n = 1), or failure to provide relevant history (n = 1). From the 1084 uroflowmetry and PVR obtained from 637 adolescents, 190 results were further excluded due to artefacts (n = 152), BV < 100 ml (n = 27), PVR >100 ml (n = 5) and missing information (n = 6). Ultimately, 894 uroflowmetry and PVR from 605 adolescents (mean age 14.6 ± 1.5 years) were analyzed. PVRs were higher in adolescents aged 15-18 years than in those aged 12-14 years (P < 0.001). Moreover, they were higher in females than in males (P < 0.001). Multivariate analysis revealed that PVR was positively influenced by age (P = 0.001) and BV (P < 0.001). The age- and gender-specific percentiles of PVR in ml and percentage of BV were calculated. We recommend a repeat PVR and close monitoring if PVR is above the 90th percentile, i.e., PVR >20 ml (7% BV) for males of both the age groups, and PVR >25 ml (9% BV) and PVR >35 ml (>10% BV) for females aged 12-14 and 15-18 years, respectively. Further investigation may be warranted if the repeat PVR is above the 95th percentile, i.e., PVR >30 ml (8% BV) and >30 ml (11% BV) for males aged 12-14 and 15-18 years, respectively, and PVR >35 ml (11% BV) and >45 ml (13% BV) for females aged 12-14 and 15-18 years, respectively. CONCLUSION: PVR increases with age and varies by gender; thus, age-and gender-specific reference values should be used. Further data from other countries is required to determine whether the study's recommendations can be applied globally.

Incidental findings involving the temporomandibular joint on computed tomography and magnetic resonance imaging.

The temporomandibular joint (TMJ) is frequently imaged in head and neck computed tomography (CT) and magnetic resonance imaging (MRI) studies. Depending on the indication for the study, an abnormality of the TMJ may be an incidental finding. These findings encompass both intra- and extra-articular disorders. They may also be related to local, regional or systemic conditions. Familiarity with these findings along with pertinent clinical information helps narrow the list of differential diagnoses. While definitive diagnosis may not be immediately apparent, a systematic approach contributes to improved discussions between clinicians and radiologists and better patient management.

The Acute Effects and Mechanism of Ketamine on Nicotine-Induced Neurogenic Relaxation of the Corpus Cavernosum in Mice.

The present study aimed to investigate the acute effects and the mechanism of ketamine on nicotine-induced relaxation of the corpus cavernosum (CC) in mice. This study measured the intra-cavernosal pressure (ICP) of male C57BL/6 mice and the CC muscle activities using an organ bath wire myograph. Various drugs were used to investigate the mechanism of ketamine on nicotine-induced relaxation. Direct ketamine injection into the major pelvic ganglion (MPG) inhibited MPG-induced increases in ICP. D-serine/L-glutamate-induced relaxation of the CC was inhibited by MK-801 (N-methyl-D-aspartate (NMDA) receptor inhibitor), and nicotine-induced relaxation was enhanced by D-serine/L-glutamate. NMDA had no effect on CC relaxation. Nicotine-induced relaxation of the CC was suppressed by mecamylamine (a non-selective nicotinic acetylcholine receptor antagonist), lidocaine, guanethidine (an adrenergic neuronal blocker), Nw-nitro-L-arginine (a non-selective nitric oxide synthase inhibitor), MK-801, and ketamine. This relaxation was almost completely inhibited in CC strips pretreated with 6-hydroxydopamine (a neurotoxic synthetic organic compound). Ketamine inhibited cavernosal nerve neurotransmission via direct action on the ganglion and impaired nicotine-induced CC relaxation. The relaxation of the CC was dependent on the interaction of the sympathetic and parasympathetic nerves, which may be mediated by the NMDA receptor.

Conjunctival T Cell Profile in Allogeneic Hematopoietic Stem Cell Transplant Patients after Instilling Topical Cyclosporine-A 0.1% Cationic Emulsion.

INTRODUCTION: To profile conjunctival T cell populations in allogeneic hematopoietic stem cell transplant (HSCT) patients after instillation of daily topical cyclosporine-A (CsA) 0.1% cationic emulsion (Ikervis), and to evaluate patients' tolerance to these eye drops. METHODS: Nineteen participants were prescribed Ikervis prophylaxis once daily to both eyes from 3-5 weeks pre-HSCT to 12 months post-HSCT. The outcome measure was conjunctival T cell proportions from flow cytometry after impression cytology. Covariates included visual acuity, intraocular pressure, slit lamp and fundal examination, dry eye (SPEED) and quality of life questionnaires, non-invasive keratograph tear break-up time (NIKBUT), conjunctival redness, meibography, lipid thickness, Schirmer test, tear cytokines, fluorescein staining, tear osmolarity, and meibomian gland expressibility. RESULTS: The conjunctival T cell analysis showed either stable or decreased proportions of conjunctival CD4 T cells at the last visit from baseline in compliant patients. CD4 proportions were increased in non-compliant patients and in the single patient who developed ocular graft-versus-host disease (GVHD). All patients were tolerant to Ikervis but 6/19 were not compliant. In the majority of patients, vision did not affect activities of daily living. Pre- and post-HSCT up to the last study visit, there was no statistically significant change in clinical covariates. Only one participant developed ocular GVHD at 9 months post-HSCT. CONCLUSION: Superficial conjunctival T cell profile reflects compliance to daily topical Ikervis eye drops and clinical ocular surface parameters in allogenic HSCT patients. Tolerance is comparable to other formulations of topical CsA in the first 12 months. GOV IDENTIFIER: NCT04636918. URL: https://clinicaltrials.gov/ct2/show/NCT04636918?cond=ocular+Graft+Versus+Host+Disease&cntry=SG&draw=2&rank=2 .

Cost-Effectiveness Analysis of HPV Extended versus Partial Genotyping for Cervical Cancer Screening in Singapore.

Human papillomavirus (HPV) partial genotyping (PGT) identifies HPV16 and HPV18 individually, alongside 12 other high-risk HPV genotypes (hrHPV) collectively. HPV extended genotyping (XGT) identifies four additional hrHPV individually (HPV31, 45, 51, and 52), and reports the remaining eight in three groups (HPV33|58; 56|59|66; 35|39|68). Quality-adjusted life years (QALY), health care resource use, and costs of XGT were compared to PGT for cervical cancer screening in Singapore using DICE simulation. Women with one of the three hrHPV identified by XGT (HPV35|39|68; 56|59|66; 51), and atypical squamous cells of undetermined significance (ASCUS) on cytology, are recalled for a repeat screening in one year, instead of undergoing an immediate colposcopy with PGT. At the repeat screening, the colposcopy is performed only for persistent same-genotype infections in XGT, while with PGT, all the women with persistent HPV have a colposcopy. Screening 500,122 women, aged 30-69, with XGT, provided an incremental cost-effectiveness ratio (ICER) versus PGT of SGD 16,370/QALY, with 7130 (19.4%) fewer colposcopies, 6027 (7.0%) fewer cytology tests, 9787 (1.6%) fewer clinic consultations, yet 2446 (0.5%) more HPV tests. The XGT ICER remains well below SGD 100,000 in sensitivity analyses, (-SGD 17,736/QALY to SGD 50,474/QALY). XGT is cost-effective compared to PGT, utilizes fewer resources, and provides a risk-based approach as the primary cervical cancer screening method.

Gastrointestinal and hepatic manifestations in patients with generalised pustular psoriasis.

Generalised pustular psoriasis (GPP) is a rare and severe form of pustular psoriasis. It is defined by persisting or relapsing macroscopically visible sterile primary pustules occurring on non-acral skin and not within psoriasis plaques. Due to its rarity, there is a lack of randomised controlled trials on GPP and its associated gastrointestinal (GI) and liver disorders. In this article, we present a review of the GI and hepatic disorders associated with GPP. GPP is known to be associated with extracutaneous manifestations such as neutrophilic cholangitis. Abnormal liver function tests are reported in up to 90% of patients with GPP upon diagnosis. Less commonly, pancreatitis and gastrointestinal bleeding have been attributed to GPP. While a psoriasis registry with 7.5% prevalence of pustular psoriasis reported an association with viral hepatitis B and C, the true relationship remains to be elucidated as hepatitis B is endemic in Asia where GPP prevalence is higher. Common genetic mutations between GPP and conditions such as hepatocellular carcinoma and inflammatory bowel disease have been identified, explaining their possible associations and providing answers to potential therapeutic options for these conditions. A lack of recognition of these association may result in unnecessary withdrawal of efficacious and definitive drugs for the treatment of GPP. Understanding the characteristics of the associated GI and hepatic disorders will have important implications for targeting the appropriate therapeutics.

Artificial Intelligence (AI) in Breast Imaging: A Scientometric Umbrella Review.

Artificial intelligence (AI), a rousing advancement disrupting a wide spectrum of applications with remarkable betterment, has continued to gain momentum over the past decades. Within breast imaging, AI, especially machine learning and deep learning, honed with unlimited cross-data/case referencing, has found great utility encompassing four facets: screening and detection, diagnosis, disease monitoring, and data management as a whole. Over the years, breast cancer has been the apex of the cancer cumulative risk ranking for women across the six continents, existing in variegated forms and offering a complicated context in medical decisions. Realizing the ever-increasing demand for quality healthcare, contemporary AI has been envisioned to make great strides in clinical data management and perception, with the capability to detect indeterminate significance, predict prognostication, and correlate available data into a meaningful clinical endpoint. Here, the authors captured the review works over the past decades, focusing on AI in breast imaging, and systematized the included works into one usable document, which is termed an umbrella review. The present study aims to provide a panoramic view of how AI is poised to enhance breast imaging procedures. Evidence-based scientometric analysis was performed in accordance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guideline, resulting in 71 included review works. This study aims to synthesize, collate, and correlate the included review works, thereby identifying the patterns, trends, quality, and types of the included works, captured by the structured search strategy. The present study is intended to serve as a "one-stop center" synthesis and provide a holistic bird's eye view to readers, ranging from newcomers to existing researchers and relevant stakeholders, on the topic of interest.

Challenge exposure to whole cigarette smoke condensate upregulates locomotor sensitization by stimulating α4ß2 nicotinic acetylcholine receptors in the nucleus accumbens of rats.

Nicotine, the primary addictive substance in tobacco, produces the psychomotor, rewarding, and reinforcing effects of tobacco dependence by stimulating nicotinic acetylcholine receptors (nAChRs) in the brain. The present study determined that α4ß2 nAChRs regulate locomotor sensitization by altering dopamine concentration in the nucleus accumbens (NAc) after systemic challenge exposure to whole cigarette smoke condensate (WCSC). Rats were administered subcutaneous injection of WCSC (0.2 mg/kg nicotine/day) for 7 consecutive days and then re-exposed to WCSC after 3 days of withdrawal. Challenge exposure to WCSC significantly increased locomotor activity. This increase was decreased by the subcutaneous injection of the α4ß2 nAChR antagonist, DHßE (3 mg/kg), but not by the intraperitoneal injection of the α7 nAChR antagonist, MLA (5 mg/kg). In parallel with a decrease in locomotor activity, blockade of α4ß2 nAChRs with DHßE decreased dopamine concentration in the NAc which was elevated by challenge exposure to WCSC. These findings suggest that challenge WCSC leads to the expression of locomotor sensitization by elevating dopamine concentration via stimulation of α4ß2 nAChRs expressed in neurons of the NAc in rats.

Health care provider's experience and perspective of cervical cancer screening in Singapore: A qualitative study.

Background: In Singapore, the current cervical cancer screening (CCS) coverage rate of 48% falls below the national target of 70%. Health care providers (HCPs) play a critical role in promoting CCS uptake. However, there is limited understanding of the perspectives of HCPs regarding CCS. Hence, we aimed to understand the challenges encountered by HCPs delivering CCS in different care settings in the Singapore health system. We also aimed to explore perspectives on newer features of CCS such as self-sampling and HPV genotyping. Methods: Physicians, nurses, program administrators and laboratory technicians involved with CCS were invited for a one-on-one semi-structured interview conducted over Zoom between May to August 2021. The interviews were transcribed and analyzed using thematic analysis. Results: Eighteen HCPs from 12 institutions were interviewed. Most participants were women (61.1%) and worked in public health institutions (72.2%). For factors influencing CCS, nine key themes were identified and organized into four categories: (1) patient factors, (2) HCP factors, (3) health system factors and (4) health promotion factors. Key themes commonly highlighted by study participants were related to patients' preferences and acceptance for screening, the processes of delivering CCS, the national priority for cervical cancer and the effectiveness of existing health promotion efforts. Five key themes were identified for CCS innovations. Self-sampling was viewed favorably to increase CCS uptake, while primary HPV screening with HPV partial genotyping had higher sensitivities to detect pre-cancers and cancers compared to cytology. Extended HPV genotyping beyond HPV16/18 could play an important role in CCS with increasing HPV vaccination coverage, as well as in the management of persistent HPV infection. Conclusion: In Singapore, HCPs face multiple challenges for CCS in practice. Insights from this study are directly relevant to, and useful for developing policies around national CCS programs and treatment guidelines.

The application of natural compounds in uveal melanoma drug discovery.

OBJECTIVES: Uveal melanoma (UM) is the most common primary intraocular tumour in adults. UM has a poor overall prognosis and ~50% of patients progress to metastatic disease that has a median survival of 5.2 months. There are currently no proven pharmacological treatments for primary or metastatic UM. Research efforts continue to seek new agents. Many natural compounds have shown promising anti-UM activity in in-vitro and/or in-vivo studies. This review summarises the current findings for natural compounds that may be potentially useful in treating UM. KEY FINDINGS: Literature suggests that natural compounds, such as pristimerin, picropodophyllin, oridonin, zeaxanthin, withaferin and FR-900359, may be promising candidate compounds to treat UM. Most of these compounds have demonstrated satisfactory efficacy in inhibiting in-vitro UM cell growth. SUMMARY: The evidence regarding the anti-UM effects of natural compounds is mainly limited to in-vitro studies; to date, only a small number of these agents have been evaluated in vivo. The molecular mechanisms underpinning the anti-UM properties of these compounds remain largely undefined. Further studies are required to evaluate the in-vivo anticancer activity, appropriate dosage regimen and safety of natural compounds that could be developed for use in UM.

Gallbladder volvulus: An unexpected "twist".

Gallbladder volvulus is a rare entity. It has been attributed to an elongated gallbladder mesentery, predisposing the gallbladder to twisting, obstructing the cystic duct and vessels, thus leading to ischemia and gangrene. Preoperative diagnosis can be elusive, but radiological features across multiple modalities have been described in the literature. We report a case of gallbladder volvulus in which the gallbladder appeared to be left-sided based on imaging, and present the radiological findings in keeping with a volvulus. Unlike cholecystitis, the treatment for volvulus is prompt detorsion and cholecystectomy; thus, accurate and timely diagnosis is paramount.

Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE) as a Screening Marker for Familial Adenomatous Polyposis (FAP): Systematic Literature Review and Screening Recommendations.

Purpose: Familial adenomatous polyposis (FAP) has an almost 100% colorectal cancer risk warranting early detection in gene carriers. This study presents congenital hypertrophy of the retinal pigment epithelium (CHRPE) as a highly specific phenotypical marker for FAP that can be used in screening at-risk individuals. Screening recommendations including morphological subclassification were formulated with supporting literature. Methods: A systematic literature review with a comprehensive search strategy was conducted using online databases. Manual searches of bibliographies and reference lists were also performed. Studies meeting inclusion criteria were graded with respect to their hierarchy of evidence and strength of recommendations according to the National Health and Medical Research Council (NHMRC) guidelines of Australia. Results: Almost 4500 participants were analysed across 28 included studies. The mean specificity of CHRPE as a phenotypical screening marker of FAP was 89% (standard deviation (SD); 14) with a mean sensitivity of 79% (SD; 8). The mean prevalence of CHRPE amongst FAP participants; at-risk participants were found to be 76% (SD; 24) and 37% (SD; 21) respectively. Bilateralism and multiple lesion number ≥3 are features highly specific for FAP. Conclusion: CHRPE was found to be a non-invasive, rapid, early phenotypical screening marker of FAP. Clinical recognition further allows increased gene analysis efficiency. The absence of CHRPE alone cannot exclude FAP. Our screening recommendations provide guidance to clinicians on evidence based CHRPE assessment. We would advocate inclusion of ocular examinations as part of a three-pronged approach, along with endoscopy and genetic testing, for efficient, timely FAP assessment in at-risk individuals.

BAP1 GERMLINE MUTATION WITH IRIDOCILIOCHOROIDAL MELANOMA AND MALIGNANT PERITONEAL MESOTHELIOMA.

PURPOSE: BAP1 germline mutation can promote risk of uveal melanoma and mesothelioma. In this study, we report a patient with BAP1 germline mutation and uveal melanoma who developed a rare form of mesothelioma in the peritoneum. METHOD: Case report. RESULTS: A 55-year-old white man noted blurred vision in the left eye. Examination revealed superotemporal episcleral sentinel vessels and a dark brown iris mass suspicious for melanoma, with angle invasion and involvement of the ciliochoroidal region. The tumor measured 14 mm in diameter and 10.3 mm in thickness. A diagnosis of iridociliochoroidal melanoma was rendered and plaque radiotherapy applied. Genetic testing revealed BAP1 germline mutation. At 3.5-year follow-up, tumor control was achieved, but radiation-related complications led to enucleation. At 5.5-year follow-up, incidental findings by laparoscopy revealed multiple peritoneal tumors, histopathologically proven to be malignant peritoneal mesothelioma. Lung evaluation was normal, and there was no melanoma-related or mesothelioma-related metastasis. Likewise, magnetic resonance imaging of the abdomen showed no evidence of hepatic metastasis. CONCLUSION: BAP1 tumor predisposition syndrome can promote risk of uveal melanoma and malignant peritoneal mesothelioma. Cancer screening for these malignancies is warranted.