Impact of COVID-19 on a rare disease (uveal melanoma) in a national reference unit of intraocular tumors in Spain.

OBJECTIVE: To analyse the impact of the COVID-19 pandemic on the diagnosis and management of uveal melanoma (a tumour included in the Orphanet catalogue of rare diseases) in a Spanish national reference unit for intraocular tumours during the first year of the pandemic. METHOD: An observational retrospective study of patients with uveal melanoma in the National Reference Unit for Adult Intraocular Tumors of the Hospital Clínico Universitario de Valladolid (Spain) was performed, analysing the pre- and post-COVID-19 periods: from March 15, 2019 to March 15, 2020 and from March 16, 2020 to March 16, 2021. Demographic data, diagnostic delay, tumour size, extraocular extension, treatment and evolution were collected. A multivariable logistic regression model was used to identify factors that were associated with the variable: enucleation. RESULTS: Eighty-two patients with uveal melanoma were included, of which 42 (51.21%) belonged to the pre-COVID-19 period and 40(40.78%) to the post-COVID-19 period. An increase in tumour size at diagnosis and in the number of enucleations was observed during the post-COVID-19 period (p < 0.05). Multivariable logistic regression demonstrated that both medium-large tumour size and patients diagnosed in the post-COVID-19 period were independently related to an increased risk of enucleation (OR 250, 95%CI, 27.69-2256.37; p < 0.01 and OR 10; 95%CI, 1.10-90.25; p = 0.04, respectively). CONCLUSIONS: The increase in tumour size observed in uveal melanomas diagnosed during the first year of the COVID-19 pandemic may have favored the increase in the number of enucleations performed during that period.

[Impact of COVID-19 on a rare disease (uveal melanoma) in a national reference unit of intraocular tumors in Spain]. / Impacto del COVID-19 en una enfermedad rara (melanoma uveal) en una unidad de referencia nacional de tumores intraoculares en España.

Objective: To analyze the impact of the COVID-19 pandemic on the diagnosis and management of uveal melanoma (a tumor included in the Orphanet catalog of rare diseases) in a Spanish national reference unit for intraocular tumors during the first year of the pandemic. Material and methods: An observational retrospective study of patients with uveal melanoma in the National Reference Unit for Adult Intraocular Tumors of the Hospital Clínico Universitario de Valladolid (Spain) was performed, analyzing the pre- and post-COVID-19 periods: from March 15, 2019 to March 15, 2020 and from March 16, 2020 to March 16, 2021. Demographic data, diagnostic delay, tumor size, extraocular extension, treatment and evolution were collected. A multivariable logistic regression model was used to identify factors that were associated with the variable: enucleation. Results: Eighty-two patients with uveal melanoma were included, of which 42(51.21%) belonged to the pre-COVID-19 period and 40(40.78%) to the post-COVID-19 period. An increase in tumor size at diagnosis and in the number of enucleations was observed during the post-COVID-19 period (p < 0.05). Multivariable logistic regression demonstrated that both medium-large tumor size and patients diagnosed in the post-COVID-19 period were independently related to an increased risk of enucleation (OR 250, 95%CI, 27.69-2256.37; p < 0.01 and OR 10; 95% CI,1.10-90.25; p = 0.04, respectively). Conclusions: The increase in tumor size observed in uveal melanomas diagnosed during the first year of the COVID-19 pandemic may have favored the increase in the number of enucleations performed during that period.

Clinic-pathological agreement in the diagnosis of conjunctival tumours: Analysis of 195 cases.

PURPOSE: The present study aims to assess the agreement between clinical and pathological diagnosis in conjunctival tumours in a specialist ocular oncology unit. METHODS: retrospective study of consecutive patients with conjunctival tumours diagnosed at the Ocular Oncology Unit of the University Hospital of Valladolid was performed from 1992 to 2017. Tumours were classified according to their origin (epithelial, melanocytic, lymphoid and others) and degree of malignancy (benign, premalignant, malignant). A biopsy was performed in cases of symptomatic or growing lesions. Cohen´s kappa (κ) statistics was used as an indicator of agreement between clinical and pathological diagnosis. RESULTS: Of 462 consecutive patients, a biopsy was required in 195 (42.2%). The agreement with the pathological diagnosis was successful in 154 (79.0%) cases. Analysis according to the grade of malignancy showed the lowest rate of agreement among benign (n = 83; 91.6%) and premalignant (n = 62; 90.3%) lesions, with a total agreement in malignant lesions (n = 50; 100%); the Cohen´s kappa coefficient (κ) was 0.90. The highest rates of concordance were found in epithelial, melanocytic and soft tissue lesions with κ values of 1, 0.8 and 1 respectively. The worst rate of concordance was found in lymphoid lesions with a κ value of 0.3. CONCLUSION: Most of the conjunctival tumours were correctly identified clinically; benign and malignant lesions showed the highest rate of accuracy; however, premalignant tumours can hide micro-invasive diseases that can go unnoticed on clinical examination. The biopsy is essential for accurate diagnosis and treatment.

Intraocular metastasis as a systemic presentation of neuroendocrine differentiation of prostate carcinoma.

A 68 year-old male was referred for assessment of an amelanotic lesion in the right eye (RE) that was associated with a gradual loss of visual acuity (VA), of 2 months onset, as the main symptom. It was noted in his medical history, that 6 years ago, he had prostate cancer treated with prostatectomy, lymphadenectomy, and coadjuvant local radiotherapy (RT). He was asymptomatic until 6 months ago, when a metastasis was discovered in the left femur, which was treated with radiotherapy. There were no findings of interest in the left eye (LE). His AV was very low in his RE, and in the eye fundus examination a mass without pigment was observed in the posterior pole with an adjacent exudative retinal detachment. Due to his personal history and results of the complementary tests such as ultrasound and magnetic resonance, the most likely diagnostic option was metastasis of prostate carcinoma, subsequently being confirmed with the histopathology results. Despite 4 cycles of chemotherapy, the patient did not show any clinical or radiological response, worsening until his death 3 months later.

Metastatic involvement of optic nerve in patient with breast and lung neoplasia.

Metastases are the most common adult intraocular tumors. However, those located in the optic nerve are very uncommon and are usually associated with spread to other locations such as the central nervous system, which darkens the prognosis. There is a case of a 67-year-old woman who reports progressive vision loss in the right eye of 15 days of evolution. The ophthalmological examination shows a relative afferent pupil defect in this eye and a pseudoedema of the papilla with retinal hemorrhages in the fundus. Personal history and characteristics of the optic nerve suggest the diagnosis of metastatic infiltration.

Pleomorphic malignant fibrous histiocytoma in bladder diverticulum.

The Malignant Fibrous Histiocytoma is a very rare cancer and rather exceptional when located in bladder diverticulum. it occurs in men in their sixties, manifests itself through haematuria and/or irritative micturition. There is not a causal association. An immunohistochemical analysis is necessary to establish a differential diagnosis. It is aggressive, with a high rate of local recurrence and remote progression, thereby requiring early treatment that consists of radical cystectomy with pelvic lymph node dissection followed by adjuvant therapy, predominantly radiotherapy on the surgical wound. Close follow-up is crucially important. Poor survival rate even when patients undergo multimodal therapy.

[Ocular retention in patients with uveal melanoma managed by a multimodality approach]. / Estudio de la conservación del globo ocular con un abordaje multiterapéutico en el melanoma uveal.

OBJECTIVE: to analyze ocular survival in eyes with uveal melanoma treated with conservative therapies, in a centre that applies all treatment modalities. METHODS: Patients diagnosed with uveal melanoma and treated between September 1990 and April 2007 were included in an historical cohorts study. RESULTS: 273 patients were included. 193 were treated with conservative treatments (70.69%) and 80 were enucleated as primary treatment. 14 patients were enucleated after conservative treatment (7.2%). Kaplan-Meier survival analysis showed an 88% survival probability of the eye in the first 5 years after conservative treatment and 83% at 10 years. CONCLUSIONS: Conservative treatments for uveal melanoma, especially brachitherapy, are safe and effective in relation to tumor control and rate of secondary effects.

A retrospective review of conjunctival melanoma: Presentation, treatment and evolution. / Revisión retrospectiva del melanoma conjuntival: presentación, tratamiento y evolución.

OBJECTIVE: The purpose of the present study is to describe the clinical characteristics and outcomes of patients diagnosed and treated for conjunctival melanoma in the Ocular Oncology Unit of the University Hospital Clinic of Valladolid. METHODS: A retrospective observational case series study was conducted on patients diagnosed with conjunctival melanoma in the Ocular Oncology Unit of University Hospital Clinic of Valladolid, from January 1992 to December 2017. Demographic information and tumour features were recorded in a Microsoft Access database. RESULTS: Among a total of 462 consecutive patients, the tumour was classified as melanocytic in 252 cases (54.5%), with 27 patients having the pathological diagnosis of conjunctival melanoma. The mean age at diagnosis was 59.2years (16-88), and there were 41% males and 59% females, with a mean follow-up of 6.1±6.8years. As regards the origin of conjunctival melanoma, 16 cases (59%) arose from primary acquired melanosis, 26% from nevus, and 15% developed de novo. The treatment performed was incisional or excisional biopsy in all patients, local adjuvant chemotherapy in 15 cases (56%) and brachytherapy in 5 patients (18%). The median survival was 18years and the probability of survival at 5 and 10years was 89% and 69%, respectively. CONCLUSIONS: Conjunctival melanoma is a rare disease, usually undervalued by the patient as well as being underdiagnosed, leading to insufficient and delayed treatment. Early diagnosis and treatment are essential to prevent recurrences and systemic extension, as well as to preserve vision and life.

Multimodal therapy in urachal carcinoma with oligometastatic bone disease.

A 35-year-old male patient was admitted to our hospital for urachal carcinoma with oligometastatic bone disease. He received a surgical resection through the umbilical area, urachal ligament and bladder dome (partial cystectomy) and adjuvant chemotherapy based on cisplatin-gemcitabine regimens together zoledronic acid with a good tolerance, no toxicity. Nine months after surgery, our patient presented no symptoms and the metastasis had been brought under control with no apparent signs of recurrence as assessed in a follow-up CT. To our knowledge, is the first case report of a urachal carcinoma with oligometastatic bone disease who received multimodal therapy, including surgery resection.

Intraocular metastasis: comparison of clinical presentation with a known and unknown primary tumour. / Metástasis intraoculares: comparación entre las formas de presentación clínica con tumor primario conocido y desconocido.

OBJECTIVE: The purpose of the present study is to review the frequency of intraocular metastases as first presentation of systemic disease, and to identify clinical and tumour characteristics. METHODS: Retrospective study of consecutive cases diagnosed of intraocular metástasis at a referral intraocular tumours unit between 1993 and 2014. General, epidemiological and ophthalmological characteristics were recorded. RESULTS: A total of 21 patients, with a mean age 62.7 years (31-89) were diagnosed with intraocular metástasis between 1993 and 2014. Both eyes were affected in 4 cases. Location was choroid in 20 cases. The intraocular tumour was the first manifestation of the systemic disease in 13 patients (61.9%). Primary tumour was breast in 47.6% and lung in 23.8%. Diagnosis of the primary tumour was performed by systemic studies, and only 1 patient required intraocular biopsy. Regarding the treatment, the majority of cases were controlled with systemic therapy, with 4 cases requiring additional external beam radiotherapy, and only one enucleation. No clinical differences were found between the cases with known and unknown systemic neoplasia, except in exudative retinal detachment, which was more frequent in the second group. CONCLUSIONS: Although intraocular metastases are the most frequent intraocular tumour, they are not a frequent cause of consultation. In more than half of the cases it is the first presentation of unknown systemic neoplasia as a solitary non-pigmented intraocular mass. Early diagnosis is crucial to establish the appropriate treatment, preserve visual function, and improve the prognosis of the patient.

Melanomalytic glaucoma secondary to iris melanoma. / Glaucoma melanomalítico secundario a melanoma de iris.

CLINICAL CASE: A 35-year-old male with unilateral ocular hypertension in the right eye (RE). Anterior segment examination of the RE showed a melanotic lesion. Intraocular pressure (IOP) was 40mmHg in RE. Gonioscopy revealed extension into the anterior chamber angle. Excisional biopsy was performed and consistent with iris melanoma and secondary melanomalytic glaucoma. Brachytherapy was performed as adjuvant therapy. DISCUSSION: In patients presenting with unilateral glaucoma and increased pigmentation in the trabecular meshwork, it is crucial to perform imaging studies. Resection by iridectomy with adjuvant episcleral brachytherapy is effective in controlling the disease.

Primary conjunctival follicular lymphoma mimicking chronic conjunctivitis.

CLINICAL CASE: The case is presented of a 43 year-old male patient with chronic follicular conjunctivitis, negative bacterial serology, and refractory to local treatment. The incisional biopsy performed showed to be consistent with reactive lymphoid hyperplasia. A year later, a new incisional biopsy showed follicular lymphoma, with no systemic involvement, and he was treated with local radiotherapy. DISCUSSION: When a chronic follicular conjunctivitis is refractory to treatment, it is essential to perform an incisional biopsy to establish the histopathological diagnosis that can range from chronic inflammation, reactive lymphoid hyperplasia to lymphoma. Follicular lymphoma is rare among conjunctival lymphomas, and the staging is indispensable for the correct therapeutic approach.

[Polyps, nodules, and Reinke edema. An epidemiological and histopathological study]. / Pólipo, nódulo y edema de Reinke. Estudio epidemiológico e histopatológico.

A retrospective epidemiological and histopathological review was made of 258 patients. Forty had laryngeal polyps, 35 vocal fold nodules, and 41 Reinke edema. One hundred forty-two records were excluded for lack of epidemiological or histopathological data. No dysplastic changes were observed in nodules or polyps. One patient with edema had mild dysplasia. The epidemiological data showed that voice abuse or misuse was the main factor in patients with vocal fold nodules; smoking was the main factor in polyps and edema.

Impacto del COVID-19 en una enfermedad rara (melanoma uveal) en una unidad de referencia nacional de tumores intraoculares en España / Impact of COVID-19 on a rare disease (uveal melanoma) in a national reference unit of intraocular tumors in Spain

Objetivo Analizar el impacto de la pandemia por COVID-19 en el diagnóstico y manejo del melanoma uveal (tumor incluido en el catálogo de enfermedades raras por Orphanet), en una unidad de referencia nacional española de tumores intraoculares, durante el primer año de pandemia. Materiales y métodos Se realizó un estudio retrospectivo observacional de pacientes con melanoma uveal en la Unidad de Referencia Nacional de Tumores Intraoculares del Adulto del Hospital Clínico Universitario de Valladolid (España), analizando los periodos pre- y pos-COVID-19: del 15 de marzo de 2019 al 15 de marzo de 2020 y del 16 marzo de 2020 al 16 de marzo de 2021. Se recogieron datos demográficos, demora diagnóstica, tamaño del tumor, extensión extraocular, tratamiento y evolución. Se utilizó un modelo de regresión logística multivariable para identificar los factores que se asociaron a la variable: enucleación. Resultados Se incluyeron 82 pacientes con melanoma uveal, de los cuales 42(51,21%) pertenecían al periodo pre-COVID-19 y 40(40,78%) al periodo pos-COVID-19. Se observó un aumento del tamaño tumoral al diagnóstico y del número de enucleaciones durante el periodo pos-COVID-19 (p<0,05). La regresión logística multivariable demostró que tanto el tamaño tumoral mediano-grande como los pacientes diagnosticados en el periodo pos-COVID-19 estaban relacionados de forma independiente con un riesgo mayor de enucleación (OR 250, IC95%, 27,69-2256,37; p<0,01 y OR 10; IC95%,1,10-90,25; p=0,04, respectivamente). Conclusiones El incremento del tamaño tumoral observado en los melanomas uveales diagnosticados durante el primer año de pandemia por COVID-19 pudo favorecer el aumento de las enucleaciones realizadas en dicho periodo (AU)

Objective To analyze the impact of the COVID-19 pandemic on the diagnosis and management of uveal melanoma (a tumor included in the Orphanet catalog of rare diseases) in a Spanish national reference unit for intraocular tumors during the first year of the pandemic. Material and methods An observational retrospective study of patients with uveal melanoma in the National Reference Unit for Adult Intraocular Tumors of the Hospital Clínico Universitario de Valladolid (Spain) was performed, analyzing the pre- and post-COVID-19 periods: from March 15, 2019 to March 15, 2020 and from March 16, 2020 to March 16, 2021. Demographic data, diagnostic delay, tumor size, extraocular extension, treatment and evolution were collected. A multivariable logistic regression model was used to identify factors that were associated with the variable: enucleation. Results Eighty-two patients with uveal melanoma were included, of which 42(51.21%) belonged to the pre-COVID-19 period and 40(40.78%) to the post-COVID-19 period. An increase in tumor size at diagnosis and in the number of enucleations was observed during the post-COVID-19 period (p<0.05). Multivariable logistic regression demonstrated that both medium-large tumor size and patients diagnosed in the post-COVID-19 period were independently related to an increased risk of enucleation (OR 250, 95%CI, 27.69-2256.37; p<0.01 and OR 10; 95% CI,1.10-90.25; p=0.04, respectively). Conclusions The increase in tumor size observed in uveal melanomas diagnosed during the first year of the COVID-19 pandemic may have favored the increase in the number of enucleations performed during that period (AU)

[Pigmented ciliary body tumours: benign or malignant?]. / Tumor pigmentado del cuerpo ciliar: ¿benigno o maligno?

CASES REPORT: We report the cases of 2 women with a pigmented tumour in the ciliary body, one a melanocytoma and the other a melanoma, with different clinical manifestations. The first one presented with decreased visual acuity associated with recent growth of the tumour, as well as sectorial opacities of the lens and subluxation. The second one is asymptomatic and has been kept under observation for more than 30 years. DISCUSSION: Although the definitive diagnosis of a pigmented tumour of the ciliary body is only achieved by the histopathology study, the group of clinical features is a determining factor when a conservative treatment is indicated.

[Combined choroidal biopsy and cytology for diagnosis of intraocular tumour]. / Técnica combinada de vitrectomía con biopsia y citología en el diagnóstico de tumor intraocular.

CLINICAL CASE: No intraocular biopsy technique is free of risk and all have the possibility of giving false negatives due to the difficulty in obtaining a sufficient sample. A modified chorioretinal biopsy was performed on a patient with suspected choroidal melanoma after negative biopsy with 25G vitrectomy. In addition to removing a solid fragment of tumor material using bimanual surgery, material from the lesion was obtained with the vitreotome to perform cytology, which confirmed the diagnosis of melanoma. DISCUSSION: Cytology obtained through the vitreotome in association with removing a solid sample of the choroidal lesion may improve the efficiency of intraocular biopsy.

[Uveal melanoma: clinical characteristics, treatment and survival in a series of 500 patients]. / Melanoma uveal: características clínicas, tratamiento y supervivencia en una serie de 500 pacientes.

OBJECTIVE: To analyse the clinical features, treatment and survival of uveal melanoma patients diagnosed in a referral Intraocular Tumours Unit over a twenty-year period. METHODOLOGY: A prospective study was performed including five hundred patients, diagnosed between January 1992 and December 2011. Clinical tumour characteristics and treatment were collected in a database in Microsoft@ Access@. The numeric variables were expressed as means of frequency and standard deviation, and the quantitative variables using frequency tables. RESULTS: The mean age of the sample was 62.19 years, with 51.2% females, and 64.2% presented with symptoms. The tumours were small in 31.12% of cases, and large in 23.09%, according to COMS criteria. Hazel green was the iris colour in 42.2% of the cases. The initial treatment was episcleral brachytherapy in 42.4% of the total. The overall mortality rate was 17% and 31.3%, and melanoma-related mortality rate was 11.6% and 14.8%, at 5 and 10 years, respectively. CONCLUSIONS: In the serie studied melanomas were more frequent in women, and a higher proportion of darker irides were observed than in other previous studies. Most of the tumours were diagnosed when they became symptomatic and in the early or medium stages, allowing conservative therapies to be used, with brachytherapy being the predominant treatment. The melanoma-related mortality appeared to be lower than previously data published. However, further studies are required on the factors influencing survival.

Concordancia clínica y patológica en tumores conjuntivales: Análisis de 195 casos / Clinic-pathological agreement in the diagnosis of conjunctival tumours: Analysis of 195 cases

Propósito Evaluar la concordancia entre el diagnóstico clínico y patológico en tumores conjuntivales en una unidad especializada en oncología ocular. Métodos Estudio retrospectivo de pacientes consecutivos con tumores conjuntivales diagnosticados en la Unidad de Oncología Ocular del Hospital Universitario de Valladolid desde 1992 hasta 2017. Los tumores se clasificaron según su origen (epitelial, melanocítico, linfoide y otros) y grado de malignidad (benigno, premaligno, maligno). Se realizó biopsia en los casos de lesiones sintomáticas o en crecimiento. Como indicador de concordancia entre el diagnóstico clínico y el patológico se utilizo el estadístico kappa (κ) de Cohen. Resultados Cuatrocientos sesenta y dos pacientes fueron atendidos de manera consecutiva, requiriendo biopsia en 195 (42,2%). La concordancia con el diagnóstico anatomopatológico fue satisfactoria en 154 (79%) casos. El análisis según el grado de malignidad mostró la menor tasa de concordancia en las lesiones benignas (n = 83; 91,6%) y premalignas (n = 62; 90,3%), con una concordancia total en las lesiones malignas (n = 50; 100%); el valor κ fue de 0,90. Los mayores índices de concordancia se encontraron en las lesiones epiteliales, melanocíticas y de partes blandas, con valores κ de 1, 0,8 y 1 respectivamente. El peor índice de concordancia se observó en lesiones linfoides, con un valor κ de 0,3. Conclusiones La mayoría de los tumores conjuntivales fueron correctamente identificados clínicamente. Las lesiones benignas y malignas mostraron la mayor tasa de precisión; sin embargo, las lesiones premalignas pueden ocultar enfermedad microinvasiva que puede pasar desapercibida en el examen clínico. La biopsia es esencial para un diagnóstico y un tratamiento precisos (AU)

Purpose The present study aims to assess the agreement between clinical and pathological diagnosis in conjunctival tumours in a specialist ocular oncology unit. Methods A retrospective study of consecutive patients with conjunctival tumours diagnosed at the Ocular Oncology Unit of the University Hospital of Valladolid was performed from 1992 to 2017. Tumours were classified according to their origin (epithelial, melanocytic, lymphoid, and others) and degree of malignancy (benign, premalignant, and malignant). A biopsy was performed in cases of symptomatic or growing lesions. Cohen's kappa (κ) statistics was used as an indicator of agreement between clinical and pathological diagnosis. Results Of 462 consecutive patients, a biopsy was required in 195 (42.2%). The agreement with the pathological diagnosis was successful in 154 (79%) cases. Analysis according to the grade of malignancy showed the lowest rate of agreement among benign (n = 83; 91.6%) and premalignant (n = 62; 90.3%) lesions, with a total agreement in malignant lesions (n = 50; 100%); the Cohen's kappa coefficient (κ) was 0.90. The highest rates of concordance were found in epithelial, melanocytic and soft tissue lesions with κ values of 1, 0.8 and 1, respectively. The worst rate of concordance was found in lymphoid lesions with a κ value of 0.3. Conclusions Most of the conjunctival tumours were correctly identified clinically; benign and malignant lesions showed the highest rate of accuracy; however, premalignant tumours can hide micro-invasive diseases that can go unnoticed on clinical examination. The biopsy is essential for accurate diagnosis and treatment (AU)

Prevalence of ocular and oculodermal melanocytosis in Spanish population with uveal melanoma.

PURPOSE: The aim of this study was to determine the prevalence of ocular and oculodermal melanocytosis (ODM) among patients with uveal melanoma (UM) in a Spanish population. METHODS: Retrospective review of the medical records of patients with ODM among patients with UM. RESULTS: Ten (11 eyes) of 400 patients (2.7%) with UM associated had ODM. The mean age at diagnosis of UM among patients with ODM was 62 years. One patient had bilateral tumours. UM was diagnosed during a routine-examination in two cases. All tumours were medium (7/11) or large (4/11) in size, with a mean maximum base of 13 mm and height of 7 mm. No patient had extraocular extension or metastatic disease at diagnosis. Enucleation was done in five cases and I-125-brachytherapy in six. The mean follow-up was 43 months. One patient died because of metastasis 2 years after enucleation; one patient is currently on treatment of systemic metastasis 11 years after. CONCLUSIONS: ODM is more frequent in spanish population with UM than in American population. Despite the risk of UM in ODM, it is often diagnosed late when a conservative treatment is not indicated.