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1.
Pediatr Rev ; 45(3): 119-131, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38425168

RESUMO

Tumors of the eye, orbit, and ocular adnexa can arise in the pediatric population. These entities can be both vision- and life-threatening and may be associated with systemic disease. Given their relative rarity, pediatricians must be aware of these conditions and understand what findings warrant immediate referral to an ophthalmologist for initiation of further testing. We aimed to review these conditions and highlight clinical features to promote awareness and expedite diagnosis. Tumors are subdivided into the following categories for review: anterior tumors of the eyelid and ocular surface, orbital tumors, and intraocular tumors.


Assuntos
Neoplasias Oculares , Neoplasias Orbitárias , Humanos , Criança , Neoplasias Oculares/diagnóstico , Neoplasias Oculares/terapia , Neoplasias Orbitárias/diagnóstico , Face
2.
Arq Bras Oftalmol ; 87(2): e20220319, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38451683

RESUMO

PURPOSE: To assess Meibomian gland dysfunction using meibography in patients with xeroderma pigmentosum and correlate with ocular surface changes. METHODS: This cross-sectional study evaluated patients with xeroderma pigmentosum. All patients underwent a comprehensive and standardized interview. The best-corrected visual acuity of each eye was determined. Detailed ophthalmic examination was conducted, including biomicroscopy examination of the ocular surface, Schirmer test type I, and meibography, and fundus examination was also performed when possible. Meibomian gland dysfunction was assessed by non-contact meibography using Oculus Keratograph® 5M (OCULUS Inc., Arlington, WA, USA). Saliva samples were collected using the Oragene DNA Self-collection kit (DNA Genotek Inc., Ottawa, Canada), and DNA was extracted as recommended by the manufacturer. Factors associated with abnormal meiboscores were assessed using generalized estimating equation models. RESULTS: A total of 42 participants were enrolled, and 27 patients underwent meibography. The meiboscore was abnormal in the upper eyelid in 8 (29.6%) patients and in the lower eyelid in 17 (62.9%). The likelihood of having abnormal meiboscores in the lower eyelid was 16.3 times greater than that in the upper eyelid. In the final multivariate model, age (p=0.001), mutation profile (p=0.006), and presence of ocular surface malignant tumor (OSMT) (p=0.014) remained significant for abnormal meiboscores. For a 1-year increase in age, the likelihood of abnormal meiboscores increased by 12%. Eyes with OSMT were 58.8 times more likely to have abnormal meiboscores than eyes without ocular surface malignant tumor. CONCLUSION: In the final model, age, xeroderma pigmentosum profile, previous cancer, and clinical alterations on the eyelid correlated with a meiboscore of ≥2. Meibomian gland dysfunction was common in patients with xeroderma pigmentosum, mainly in the lower eyelid. The severity of Meibomian gland dysfunction increases with age and is associated with severe eyelid changes.


Assuntos
Neoplasias Oculares , Disfunção da Glândula Tarsal , Xeroderma Pigmentoso , Humanos , Estudos Transversais , Xeroderma Pigmentoso/complicações , Xeroderma Pigmentoso/diagnóstico por imagem , Pálpebras , DNA
3.
BMJ Open Ophthalmol ; 9(1)2024 Feb 21.
Artigo em Inglês | MEDLINE | ID: mdl-38388005

RESUMO

BACKGROUND: Large genomic databases enable genetic evaluation in terms of haploinsufficiency and prevalence of missense and synonymous variants. We explored these parameters in ocular tumour-associated genes. METHODS: A curated list of ocular tumour-associated genes was assessed using the genomic databases Genome Aggregation Database (gnomAD) and DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources (DECIPHER) and compared with breast and lung cancer-associated gene lists. Haploinsufficiency was determined based on specific criteria: probability of loss of function index ≥0.9 in gnomAD, upper CI O/E limit <0.35 for loss of function variants in gnomAD and/or a DECIPHER pHaplo ≥0.86. UniProt was used for further gene characterisation, and gene ontology Protein Analysis THrough Evolutionary Relationships was explored for common biological pathways. In addition, we identified genes with under-representation/over-representation of missense/synonymous variants. RESULTS: Fifty-seven genes were identified in association with ocular and extraocular tumours.Regarding haploinsufficiency, 41% of genes met the criteria for negative selection, with 57% categorised as tumour-suppressing and 39% as oncogenic. Most genes were involved in regulatory processes. Regarding triplosensitivity, 33% of genes reached significance and 83% of these were haploinsufficient. Analysis of variants revealed under-representation of missense variants in 23% of genes and over-representation of synonymous variants in 5% of genes. Ocular tumour-associated genes exhibited higher scores for haploinsufficiency and triplosensitivity compared with breast and lung cancer-associated genes. Pathway analysis revealed significant enrichment in cellular proliferation, differentiation and division. Encoded proteins of ocular tumour-associated genes were generally longer than the median of the UniProt database. CONCLUSION: Our findings highlight the importance of negative selection in ocular tumour genes, supporting cranial gene conservation. This study provides insights into ocular tumourigenesis and future research avenues.


Assuntos
Neoplasias Oculares , Neoplasias Pulmonares , Humanos , Proteínas , Haploinsuficiência/genética , Genômica , Neoplasias Oculares/genética
4.
BMC Ophthalmol ; 24(1): 81, 2024 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-38388885

RESUMO

BACKGROUND: To report a case of a 4-year-old patient with Goldenhar syndrome. CASE PRESENTATION: The author presents a rare case report involving a 4-year-old boy with multiple malformations. A comprehensive examination showed that the patient primarily had a limbal dermoid. He also has bilateral microtia and ear canal deformities. The skull CT scan and spine X-ray showed Maxillofacial Abnormalities and scoliosis. Whole Exome Sequencing revealed potential gene variations related to microtia. Although certain circumstances prevented us from initiating follow-up treatment for the patient, we have provided a detailed account of the diagnostic methodologies used for this condition. CONCLUSIONS: Goldenhar syndrome is a congenital condition, predominantly presenting as sporadic cases. Its diagnosis and management typically necessitate the involvement of multiple disciplines, including otolaryngology and craniofacial surgery. The syndrome encompasses a variety of craniofacial features, which can facilitate early diagnosis and guide subsequent therapeutic interventions.


Assuntos
Anormalidades Múltiplas , Microtia Congênita , Neoplasias Oculares , Síndrome de Goldenhar , Masculino , Humanos , Pré-Escolar , Síndrome de Goldenhar/diagnóstico , Síndrome de Goldenhar/genética , Microtia Congênita/diagnóstico , Anormalidades Múltiplas/diagnóstico , Tomografia Computadorizada por Raios X
5.
Comput Biol Med ; 170: 108067, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38301513

RESUMO

BACKGROUND: Ocular Adnexal Lymphoma (OAL) is a non-Hodgkin's lymphoma that most often appears in the tissues near the eye, and radiotherapy is the currently preferred treatment. There has been a controversy regarding the prognostic factors for systemic failure of OAL radiotherapy, the thorough evaluation prior to receiving radiotherapy is highly recommended to better the patient's prognosis and minimize the likelihood of any adverse effects. PURPOSE: To investigate the risk factors that contribute to incomplete remission in OAL radiotherapy and to establish a hybrid model for predicting the radiotherapy outcomes in OAL patients. METHODS: A retrospective chart review was performed for 87 consecutive patients with OAL who received radiotherapy between Feb 2011 and August 2022 in our center. Seven image features, derived from MRI sequences, were integrated with 122 clinical features to form comprehensive patient feature sets. Chemometric algorithms were then employed to distill highly informative features from these sets. Based on these refined features, SVM and XGBoost classifiers were performed to classify the effect of radiotherapy. RESULTS: The clinical records of from 87 OAL patients (median age: 60 months, IQR: 52-68 months; 62.1% male) treated with radiotherapy were reviewed. Analysis of Lasso (AUC = 0.75, 95% CI: 0.72-0.77) and Random Forest (AUC = 0.67, 95% CI: 0.62-0.70) algorithms revealed four potential features, resulting in an intersection AUC of 0.80 (95% CI: 0.75-0.82). Logistic Regression (AUC = 0.75, 95% CI: 0.72-0.77) identified two features. Furthermore, the integration of chemometric methods such as CARS (AUC = 0.66, 95% CI: 0.62-0.72), UVE (AUC = 0.71, 95% CI: 0.66-0.75), and GA (AUC = 0.65, 95% CI: 0.60-0.69) highlighted six features in total, with an intersection AUC of 0.82 (95% CI: 0.78-0.83). These features included enophthalmos, diplopia, tenderness, elevated ALT count, HBsAg positivity, and CD43 positivity in immunohistochemical tests. CONCLUSION: The findings suggest the effectiveness of chemometric algorithms in pinpointing OAL risk factors, and the prediction model we proposed shows promise in helping clinicians identify OAL patients likely to achieve complete remission via radiotherapy. Notably, patients with a history of exophthalmos, diplopia, tenderness, elevated ALT levels, HBsAg positivity, and CD43 positivity are less likely to attain complete remission after radiotherapy. These insights offer more targeted management strategies for OAL patients. The developed model is accessible online at: https://lzz.testop.top/.


Assuntos
Neoplasias Oculares , Linfoma não Hodgkin , Humanos , Masculino , Pré-Escolar , Feminino , Estudos Retrospectivos , Quimiometria , Diplopia , Antígenos de Superfície da Hepatite B , Neoplasias Oculares/diagnóstico por imagem , Neoplasias Oculares/radioterapia , Linfoma não Hodgkin/diagnóstico por imagem , Linfoma não Hodgkin/radioterapia , Linfoma não Hodgkin/patologia , Algoritmos
6.
Technol Cancer Res Treat ; 23: 15330338231219352, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38233736

RESUMO

Background: Although gastric adenocarcinoma (GA) related ocular metastasis (OM) is rare, its occurrence indicates a more severe disease. We aimed to utilize machine learning (ML) to analyze the risk factors of GA-related OM and predict its risks. Methods: This is a retrospective cohort study. The clinical data of 3532 GA patients were collected and randomly classified into training and validation sets in a ratio of 7:3. Those with or without OM were classified into OM and non-OM (NOM) groups. Univariate and multivariate logistic regression analyses and least absolute shrinkage and selection operator were conducted. We integrated the variables identified through feature importance ranking and further refined the selection process using forward sequential feature selection based on random forest (RF) algorithm before incorporating them into the ML model. We applied six ML algorithms to construct the predictive GA model. The area under the receiver operating characteristic (ROC) curve indicated the model's predictive ability. Also, we established a network risk calculator based on the best performance model. We used Shapley additive interpretation (SHAP) to identify risk factors and to confirm the interpretability of the black box model. We have de-identified all patient details. Results: The ML model, consisting of 13 variables, achieved an optimal predictive performance using the gradient boosting machine (GBM) model, with an impressive area under the curve (AUC) of 0.997 in the test set. Utilizing the SHAP method, we identified crucial factors for OM in GA patients, including LDL, CA724, CEA, AFP, CA125, Hb, CA153, and Ca2+. Additionally, we validated the model's reliability through an analysis of two patient cases and developed a functional online web prediction calculator based on the GBM model. Conclusion: We used the ML method to establish a risk prediction model for GA-related OM and showed that GBM performed best among the six ML models. The model may identify patients with GA-related OM to provide early and timely treatment.


Assuntos
Adenocarcinoma , Neoplasias Oculares , Neoplasias Gástricas , Humanos , Reprodutibilidade dos Testes , Estudos Retrospectivos , Algoritmos , Aprendizado de Máquina
7.
Phys Med Biol ; 69(4)2024 Feb 12.
Artigo em Inglês | MEDLINE | ID: mdl-38211314

RESUMO

Objective.Determining and verifying the number of monitor units is crucial to achieving the desired dose distribution in radiotherapy and maintaining treatment efficacy. However, current commercial treatment planning system(s) dedicated to ocular passive eyelines in proton therapy do not provide the number of monitor units for patient-specific plan delivery. Performing specific pre-treatment field measurements, which is time and resource consuming, is usually gold-standard practice. This proof-of-concept study reports on the development of a multi-institutional-based generalized model for monitor units determination in proton therapy for eye melanoma treatments.Approach.To cope with the small number of patients being treated in proton centers, three European institutes participated in this study. Measurements data were collected to address output factor differences across the institutes, especially as function of field size, spread-out Bragg peak modulation width, residual range, and air gap. A generic model for monitor units prediction using a large number of 3748 patients and broad diversity in tumor patterns, was evaluated using six popular machine learning algorithms: (i) decision tree; (ii) random forest, (iii) extra trees, (iv) K-nearest neighbors, (v) gradient boosting, and (vi) the support vector regression. Features used as inputs into each machine learning pipeline were: Spread-out Bragg peak width, range, air gap, fraction and calibration doses. Performance measure was scored using the mean absolute error, which was the difference between predicted and real monitor units, as collected from institutional gold-standard methods.Main results.Predictions across algorithms were accurate within 3% uncertainty for up to 85.2% of the plans and within 10% uncertainty for up to 98.6% of the plans with the extra trees algorithm.Significance.A proof-of-concept of using machine learning-based generic monitor units determination in ocular proton therapy has been demonstrated. This could trigger the development of an independent monitor units calculation tool for clinical use.


Assuntos
Neoplasias Oculares , Melanoma , Terapia com Prótons , Humanos , Terapia com Prótons/métodos , Planejamento da Radioterapia Assistida por Computador/métodos , Aprendizado de Máquina , Prótons , Dosagem Radioterapêutica , Neoplasias Oculares/radioterapia
8.
Oncologist ; 29(3): 263-269, 2024 Mar 04.
Artigo em Inglês | MEDLINE | ID: mdl-38227581

RESUMO

BACKGROUND: Lacrimal gland adenoid cystic carcinoma (LGACC) has historically been associated with a poor prognosis even with localized disease, with a survival of 56% at 5 years. In 1988, we treated the first patient with neoadjuvant intra-arterial cytoreductive chemotherapy (IACC). Since then, we have used this protocol as the standard approach. We aim to analyze the outcomes of patients with LGACC treated with the protocol and compare them to a population-based cohort to assess if IACC can improve survival. METHODS: We prospectively assessed all non-metastatic patients with LGACC treated with IACC at a single institution between 1988 and 2021. For a comparison group, we identified all non-metastatic patients with LGACC treated with excision from the Surveillance, Epidemiology, and End Results (SEER) registry. We calculated disease-specific survival using the Kaplan-Meier and Cox proportional-hazards modeling methods. RESULTS: Thirty-five non-metastatic patients with LGACC treated with IACC were identified at a single institution, and 64 patients with non-metastatic LGACC treated with excision were identified in the SEER database. The 5- and 10-year disease-specific survival rates for patients treated with IACC were 84% (95%CI 71-97) and 76% (95%CI 60-92), respectively. While the 5- and 10-year disease-specific survival rates for the population-based cohort were 72% (95%CI 62-82) and 46% (95%CI 32-60). The survival analysis favored IACC, with a 60% lower risk of death (HR: 0.4; 95%CI 0.2-0.9). CONCLUSION: IACC improves disease-specific survival in comparison to a population-based cohort treated with excision. Additional patients treated with IACC at multiple institutions are required to provide further external validity.


Assuntos
Carcinoma Adenoide Cístico , Neoplasias Oculares , Neoplasias de Cabeça e Pescoço , Doenças do Aparelho Lacrimal , Aparelho Lacrimal , Humanos , Carcinoma Adenoide Cístico/tratamento farmacológico , Aparelho Lacrimal/patologia , Terapia Neoadjuvante , Procedimentos Cirúrgicos de Citorredução , Estudos Retrospectivos , Doenças do Aparelho Lacrimal/tratamento farmacológico , Doenças do Aparelho Lacrimal/patologia , Neoplasias Oculares/tratamento farmacológico , Neoplasias Oculares/patologia
9.
Acta Neurochir (Wien) ; 166(1): 9, 2024 Jan 13.
Artigo em Inglês | MEDLINE | ID: mdl-38217694

RESUMO

INTRODUCTION: Orbital schwannomas (OS) are rare occurrences with no more than 500 cases reported in the literature. The tumor's potential to compromise the delicate neuro-ophthalmic structures within the orbit prompts surgical removal. Tumor removal is performed by ophthalmologists, often requiring a multidisciplinary surgical approach. The literature contains a very limited number of cases managed non-surgically. However, the inherent risks of orbital surgery warrant a comparison of the outcomes of conservative and surgical management strategies. AIMS: To review the national Swedish experience with the management of orbital schwannomas. METHODS: The study center is the primary Swedish referral center for the multidisciplinary management of orbital tumors, including schwannomas. During the period of 2005 to 2021, 16 patients with an OS diagnosis were managed at the center. RESULTS: Four patients initially underwent surgery where gross total resection (GTR) was achieved in three (75%) and subtotal resection (STR) in one (25%) case. The remaining 12 patients, who had a low risk of neuro-ophthalmic impairment, were managed conservatively with radiological and clinical examinations at regular intervals. After an average follow-up of 17 months, surgery was performed in three of these cases (25%). No recurrences or tumor growths were detected on radiological follow-ups (mean 50 months), and all patients experienced postoperative improvement at clinical follow-up (mean 65 months). The remainder of the conservatively treated patients (n=9) experienced no clinical progression (mean 30 months). A slight radiological tumor progression was detected in one patient after 17 months. CONCLUSION: There were no differences in long-term outcome between patients who had been managed with early surgery and those operated later after an initially conservative management. Conservatively treated patients had minimal to no symptoms and remained clinically stable throughout the follow-up period. Based on these findings, conservative management may successfully be adopted in cases with mild symptoms, no signs of compressive optic neuropathy and low risk of neuro-ophthalmic impairment. Conversion to surgical management is indicated upon clinical deterioration or tumor growth. Based on the findings of this study a decision tree for the management of orbital schwannomas is suggested.


Assuntos
Neoplasias Oculares , Neurilemoma , Neoplasias Orbitárias , Humanos , Neurilemoma/diagnóstico por imagem , Neurilemoma/cirurgia , Procedimentos Neurocirúrgicos/efeitos adversos , Pesquisa , Neoplasias Oculares/cirurgia , Neoplasias Orbitárias/diagnóstico por imagem , Neoplasias Orbitárias/cirurgia , Estudos Retrospectivos , Resultado do Tratamento
10.
J Vis Exp ; (203)2024 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-38284545

RESUMO

Vitreoretinal lymphoma (VRL) represents an aggressive lymphoma, often categorized as primary central nervous system diffuse large B-cell lymphoma. To diagnose VRL, specimens such as vitreous humor and, more recently, aqueous humor are collected. Diagnostic testing for VRL on these specimens includes cytology, flow cytometry, and molecular testing. However, both cytopathology and flow cytometry, along with molecular testing using cellular DNA, necessitate intact whole cells. The challenge lies in the fact that vitreous and aqueous humor typically have low cellularity, and many cells get destroyed during collection, storage, and processing. Moreover, these specimens pose additional difficulties for molecular testing due to the high viscosity of vitreous humor and the low volume of both vitreous and aqueous humor. This study proposes a method for extracting cell-free DNA from vitreous and aqueous specimens. This approach complements the extraction of cellular DNA or allows the cellular component of these specimens to be utilized for other diagnostic methods, including cytology and flow cytometry.


Assuntos
Ácidos Nucleicos Livres , Neoplasias Oculares , Linfoma , Neoplasias da Retina , Humanos , Corpo Vítreo , Neoplasias da Retina/diagnóstico , Neoplasias da Retina/genética , Neoplasias da Retina/patologia , Humor Aquoso , Biomarcadores Tumorais/genética , Neoplasias Oculares/patologia , Linfoma/diagnóstico , Linfoma/genética , Linfoma/patologia , DNA
11.
Health Qual Life Outcomes ; 22(1): 3, 2024 Jan 07.
Artigo em Inglês | MEDLINE | ID: mdl-38185647

RESUMO

BACKGROUND: Eye cancer is a serious eye disease that threatens patients' lives. In the past decade, there have been more and more studies on eye cancer. From the recently published eye cancer literature review, it can be seen that the two most popular research hotspots are retinoblastoma (RB) and uveal melanoma (UM) [1, 2]. Although several studies have assessed QOL in different types of eye cancer patients, a study that synthesizes the factors influencing QOL in eye cancer patients is yet to be undertaken. This study aimed to review and evaluate the literature related to the QOL of RB and UM survivors, and provide a synthesis of the current evidence on the impact of the two types of eye cancer on the overall QOL of patients. METHODS: Eight databases (APA Psych Articles, CINAHL Complete, Health Source: Nursing/Academic Edition, MEDLINE Complete, Scopus, Cochrane Library, PubMed, and Registers (Clinicaltrials.gov.)) were searched between January 2012 and December 2022 for English, peer-reviewed quantitative original studies within this review. All publications were screened using the Preferred Reporting Items for Systematic Review and Meta-Analyses reporting guidelines. The methodological quality of the reviews was assessed using the Joanna Briggs Institute Critical Appraisal Checklists. The findings were summarised and tabulated accordingly. RESULTS: Seventeen articles were analysed. Among them, 14 articles on patients with UM, and three articles on patients with RB using 18 different types of measurement tools were included. Eight researchers claimed that the overall QOL of patients with eye cancer was better than or similar to that of the general healthy population. However, nine studies indicated that these patients had poorer QOL than others. Many factors affect QOL, including treatment, sex, and age. CONCLUSION: This systematic review identified the QOL levels and several factors that influence the QOL of ocular cancer patients worldwide, due to the variability in quality of the studies, it also showed the need for further research to assess factors affecting long-term QOL outcomes in RB and UM survivors. Simultaneously, it clarified the necessity and importance of developing standardized and complete assessment tools to compare QOL in different countries. Early interventions can be developed to improve the survivors' QOL by identifying potential deficits in specific areas.


Assuntos
Neoplasias Oculares , Neoplasias Uveais , Humanos , Qualidade de Vida , Nível de Saúde
12.
Cancer Med ; 13(3): e6831, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38230983

RESUMO

BACKGROUND: Studies on the epidemiological information and prognosis of primary malignant lacrimal gland tumors (MLGTs) are rare for its low occurrence. The goal of our research was to investigate the epidemiological characteristics and survival outcomes of patients with MLGTs. METHODS: Incidence and demographic information of patients with MLGTs were collected from the Surveillance, Epidemiology, and End Results (SEER) database. To identify independent prognostic factors for disease-specific survival (DSS) and overall survival (OS), univariate and multivariate Cox regression analysis were performed. RESULTS: The overall incidence of primary MLGTs from 1975 to 2020 was 0.413/1,000,000 (according to the 2000 American standard population), with a steadily increasing incidence over years. A total of 964 patients with primary MLGTs were diagnosed, with an average age of 59.3 years. Of these, 53.2% were aged ≥60 years, 57.4% were female, and 77.1% were whites. Multivariate Cox regression analysis demonstrated that year of diagnosis, age, sex, histological type, SEER stage, surgery, and chemotherapy were independent prognostic factors of DSS or OS. CONCLUSIONS: Although primary MLGT is rare, its incidence has steadily increased in the past 46 years, and surgery was related to a better prognosis.


Assuntos
Neoplasias Oculares , Aparelho Lacrimal , Humanos , Feminino , Estados Unidos , Pessoa de Meia-Idade , Masculino , Aparelho Lacrimal/patologia , Incidência , Programa de SEER , Prognóstico , Neoplasias Oculares/epidemiologia , Neoplasias Oculares/terapia
13.
Eye (Lond) ; 38(3): 553-557, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37752343

RESUMO

BACKGROUND: Paediatric conjunctival lesions are rare and diverse. Though often indolent and asymptomatic, they can in some cases be sight or life-threatening. Awareness of concerning features of conjunctival lesions is key to optimal management. We aim to provide insight into management of paediatric conjunctival lesions though a review of cases in our service in last 12 years. METHODS: We present a retrospective analysis of our population-based cohort of children with conjunctival lesions presenting to our regional service in Belfast between 2011 and 2022 inclusive. We detail three rare cases of paediatric conjunctival lesions; a congenital intrascleral cyst leading to astigmatic amblyopia, a rapidly changing salmon-pink lesion confirmed as an embryonal rhabdomyosarcoma and an unusual presentation of a chronic granuloma arising from the caruncle. RESULTS: 85 conjunctival lesions were identified in <16 year olds giving a cumulative incidence of 27 cases per 100,000 population over 12 years. Mean age at presentation was 7 years old. Most common lesions were naevi (40%), limbal dermoids (21%), conjunctival melanosis (14%), conjunctival cysts (7%) and phlycten (6%). When seen at presentation 8% of cases were immediately listed for surgery, 28% were discharged and 64% entered a phase of observation. CONCLUSION: Paediatric conjunctival lesions have potential to cause visual manifestations, whilst some may undergo malignant transformation. Anterior segment photography is crucial in monitoring change and facilitating early discharge in the absence of sinister features. Malignant transformation must be considered in changing lesions which ought to have histological diagnosis obtained to prevent potentially sight and life-threatening conditions.


Assuntos
Neoplasias da Túnica Conjuntiva , Neoplasias Oculares , Humanos , Criança , Estudos Retrospectivos , Neoplasias da Túnica Conjuntiva/patologia , Túnica Conjuntiva/patologia , Neoplasias Oculares/patologia , Incidência
14.
Clin Dermatol ; 42(1): 71-77, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37866412

RESUMO

Periocular and ocular surface nonmelanoma malignancies, including basal cell carcinoma (BCC), squamous cell carcinomas (SCC), and ocular surface squamous neoplasia (OSSN), are rare, but their management requires special considerations. The most common periocular malignancy is BCC, which constitutes 80% to 96% of tumors, followed by SCC, which represents 5% to 10% of tumors. OSSN represents a spectrum of diseases that encompass dysplastic alteration to the squamous epithelium of the eye. OSSN ranges from squamous dysplasia to conjunctival intraepithelial neoplasia/carcinoma in situ to invasive SCC, which is the most common ocular malignancy. These tumors can be staged using the eighth edition of the American Joint Committee on Cancer categorization system. The standard of care for periocular malignancies is Mohs micrographic surgery, while medical management with 5-fluorouracil (5-FU), interferon alfa-2b (INF), and mitomycin C (MMC) or "no touch" surgical excision are options for OSSN. Systemic therapies, including sonic hedgehog inhibitors for BCC and epidermal growth factor inhibitors and immune-checkpoint inhibitors for SCC, can be utilized for advanced disease. Recurrence rates are higher for periorbital and ocular malignancies than their respective cutaneous counterparts. These carcinomas and their respective treatments have unique side effects and considerations in an effort to preserve visual function.


Assuntos
Carcinoma de Células Escamosas , Neoplasias da Túnica Conjuntiva , Neoplasias Oculares , Neoplasias Cutâneas , Humanos , Proteínas Hedgehog , Neoplasias da Túnica Conjuntiva/tratamento farmacológico , Neoplasias da Túnica Conjuntiva/patologia , Mitomicina/uso terapêutico , Neoplasias Oculares/tratamento farmacológico , Neoplasias Oculares/patologia , Neoplasias Cutâneas/tratamento farmacológico , Fluoruracila/uso terapêutico , Carcinoma de Células Escamosas/terapia , Carcinoma de Células Escamosas/patologia
16.
Ophthalmic Plast Reconstr Surg ; 40(2): 206-211, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37972978

RESUMO

PURPOSE: Lacrimal gland adenoid cystic carcinoma (LGACC) is a rare orbital malignancy with devastating lethality. Neoadjuvant intra-arterial chemotherapy (IACC) has demonstrated cytoreductive effects on LGACC macroscopically, but limited studies have examined cellular and molecular determinants of the cytoreductive effect. This post hoc study assessed apoptotic marker expression on excised tumor specimens after neoadjuvant IACC and globe-sparing resection, emphasizing the examination of tumor margins. METHODS: This retrospective study identified LGACC specimens resected in a globe-sparing technique after neoadjuvant IACC by reviewing the Florida Lions Ocular Pathology database at Bascom Palmer Eye Institute. Histopathology slides of the specimens were re-examined to confirm the diagnosis and identify the tumor margin. Immunofluorescent staining was performed for apoptotic markers, including P53, cleaved caspase-3, cleaved PARP-1, and terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL). Positive expression was determined by comparison to the negative control. RESULTS: Tumor specimens from 5 patients met inclusion criteria. All 5 cases were positive at the center and the margin for TUNEL, p53, and cleaved caspase-3. One case did not show positive expression of cleaved PARP-1 at the margin but was positive for the other apoptotic markers. CONCLUSIONS: This post hoc study demonstrated positive staining for multiple apoptotic markers in post-IACC tumor specimens at the tumor center and margin. Apoptotic marker expression along the margins of post-treatment specimens is important, as it may offer surrogate information to speculate on the state of residual cancer cells adjacent to the excision margin inadvertently remaining in the orbit.


Assuntos
Carcinoma Adenoide Cístico , Neoplasias Oculares , Aparelho Lacrimal , Humanos , Carcinoma Adenoide Cístico/tratamento farmacológico , Carcinoma Adenoide Cístico/cirurgia , Caspase 3 , Margens de Excisão , Inibidores de Poli(ADP-Ribose) Polimerases , Estudos Retrospectivos , Proteína Supressora de Tumor p53 , Neoplasias Oculares/tratamento farmacológico
18.
Retina ; 44(2): 353-359, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-37883576

RESUMO

PURPOSE: To evaluate the effectiveness and safety of intravitreal melphalan (IVM) injection therapy in vitreoretinal lymphoma. METHODS: Eight eyes of five biopsy-proven vitreoretinal lymphoma patients who were treated with IVM injection as a second-line therapy after intravitreal methotrexate and rituximab injections were retrospectively evaluated between January 2011 and March 2023. RESULTS: The medical records of five vitreoretinal lymphoma patients (mean age of 62 years at the diagnosis) including 4 (80%) female patients and 1 (20%) male patient were retrospectively analyzed. Three patients (60%) either had a history of central nervous lymphoma or developed it during the follow-up. Patients were previously treated with a mean of five cycles of monthly intravitreal methotrexate and rituximab injections. All eyes showed complete response by the disappearance of vitreal and/or subretinal neoplastic cells within 6 weeks after IVM injections (range, 1-4 injections per eye). Of 12 IVM injections, 3 (25%) injections were associated with macular edema diagnosed on optical coherence tomography at 1-month follow-up and resolved spontaneously within 5 months. The IVM administration induced new retinal pigment epithelium changes in three eyes (37%). CONCLUSION: Intravitreal melphalan injection may be effective in the management of vitreoretinal lymphoma as a second-line local therapy. Randomized clinical trials with larger numbers of patients are needed to establish the efficacy, treatment protocol, and safety of IVM injection.


Assuntos
Neoplasias Oculares , Linfoma , Neoplasias da Retina , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Oculares/tratamento farmacológico , Injeções Intravítreas , Linfoma/diagnóstico , Melfalan , Metotrexato , Neoplasias da Retina/diagnóstico , Neoplasias da Retina/tratamento farmacológico , Neoplasias da Retina/patologia , Estudos Retrospectivos , Rituximab/uso terapêutico , Tomografia de Coerência Óptica , Corpo Vítreo/patologia
19.
Med Phys ; 51(1): 694-706, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37665982

RESUMO

PURPOSE: A joint Working Group of the American Association of Physicists in Medicine (AAPM), the European Society for Radiotherapy and Oncology (ESTRO), and the Australasian Brachytherapy Group (ABG) was created to aid in the transition from the AAPM TG-43 dose calculation formalism, the current standard, to model-based dose calculations. This work establishes the first test cases for low-energy photon-emitting brachytherapy using model-based dose calculation algorithms (MBDCAs). ACQUISITION AND VALIDATION METHODS: Five test cases are developed: (1) a single model 6711 125 I brachytherapy seed in water, 13 seeds (2) individually and (3) in combination in water, (4) the full Collaborative Ocular Melanoma Study (COMS) 16 mm eye plaque in water, and (5) the full plaque in a realistic eye phantom. Calculations are done with four Monte Carlo (MC) codes and a research version of a commercial treatment planning system (TPS). For all test cases, local agreement of MC codes was within ∼2.5% and global agreement was ∼2% (4% for test case 5). MC agreement was within expected uncertainties. Local agreement of TPS with MC was within 5% for test case 1 and ∼20% for test cases 4 and 5, and global agreement was within 0.4% for test case 1 and 10% for test cases 4 and 5. DATA FORMAT AND USAGE NOTES: Dose distributions for each set of MC and TPS calculations are available online (https://doi.org/10.52519/00005) along with input files and all other information necessary to repeat the calculations. POTENTIAL APPLICATIONS: These data can be used to support commissioning of MBDCAs for low-energy brachytherapy as recommended by TGs 186 and 221 and AAPM Report 372. This work additionally lays out a sample framework for the development of test cases that can be extended to other applications beyond eye plaque brachytherapy.


Assuntos
Braquiterapia , Neoplasias Oculares , Melanoma , Humanos , Dosagem Radioterapêutica , Melanoma/radioterapia , Radiometria , Neoplasias Oculares/radioterapia , Método de Monte Carlo , Água , Planejamento da Radioterapia Assistida por Computador
20.
Ophthalmol Retina ; 8(1): 72-80, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37648063

RESUMO

PURPOSE: Vitreoretinal lymphoma is a malignancy with high mortality. Incidence is rare, and there is a lack of medical evidence to direct management. This work describes presentation, diagnostic testing, and first treatment approaches in a recently diagnosed and treated patient cohort. DESIGN: Clinical registry-based observational study. SUBJECTS: Forty-eight women and 32 men (age range, 32-91 years; median age, 64 years) diagnosed with vitreoretinal lymphoma. METHODS: An international network of ophthalmologists reported clinical features and management of patients presenting with vitreoretinal lymphoma between January 1, 2020 and December 31, 2022 via an electronic platform. MAIN OUTCOME MEASURES: Visual acuity at presentation (logarithm of the minimum angle of resolution [logMAR]); basis for diagnosis; first treatment. RESULTS: Vitreoretinal lymphoma was bilateral at presentation in 65% of patients (n = 52) and an initial site of lymphoma in 78% (n = 62). Of 127 eyes with lymphoma at presentation, vitreous was involved in 89% (n = 113) and was the only involved eye tissue in 40% (n = 51), and retina was involved in 46% (n = 59) and was the only involved eye tissue in 9% (n = 11). Median logMAR visual acuity of the worse-seeing eye was 0.50. The lymphoma was diagnosed from ocular specimens in 80% of patients (64/80), usually vitreous (57/64 patients [89%]), and on other clinical information in 20% of patients (16/80). Cellular studies were performed on ocular specimens from 59 of 64 patients (92%), most often cytology. Tumor gene analysis was used in 21 of 64 patients (33%), and cytokine assays were used in 13 of 64 patients (20%). For 76 patients (95%), treatment was initiated within 6 months of diagnosis and included ocular (38/76 [48%]), extraocular (17/76 [21%]), and ocular plus extraocular (21/76 [26%]) approaches. Intravitreal methotrexate was the most common ocular treatment (83/87 eyes [95%]). CONCLUSIONS: Using data collected from 80 patients diagnosed with vitreoretinal lymphoma since 2020, we show that visual impairment is common, and that management often involves diagnosis by cellular tests and treatment with intravitreal chemotherapy. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.


Assuntos
Neoplasias Oculares , Linfoma , Neoplasias da Retina , Masculino , Humanos , Feminino , Pessoa de Meia-Idade , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Retina/terapia , Neoplasias da Retina/tratamento farmacológico , Corpo Vítreo/patologia , Neoplasias Oculares/diagnóstico , Linfoma/diagnóstico , Linfoma/terapia , Técnicas e Procedimentos Diagnósticos
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