Assuntos
Melanoma , Osteopontina , Humanos , Melanoma/genética , Melanoma/diagnóstico , Osteopontina/genética , Osteopontina/metabolismo , Prognóstico , Regulação Neoplásica da Expressão Gênica , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Isoformas de Proteínas/genética , Isoformas de Proteínas/metabolismo , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Processamento Alternativo , Feminino , MasculinoRESUMO
Background: Anorectal melanoma (AM) is a rare and aggressive type of tumor, with varied and inconclusive scientific information. Its preoperative diagnosis is challenging due to its rarity and similarity to other anorectal conditions. It represents only 1.3% of melanomas and affects more women than men. Approximately 20-30% of AM cases are amelanotic, complicating endoscopic detection and leading to misdiagnoses. AM is often confused with hemorrhoids, polyps, and rectal cancer in two thirds of patients due to similar symptoms. The causes and risk factors of AM are not well understood, but they are suspected to differ from cutaneous and ocular melanomas. Diagnosis is performed through biopsy and immunohistochemical staining. Colonoscopy helps to characterize the lesions, and histological examination is crucial for definitive diagnosis. Clinical case: 50-year-old woman with rectal bleeding and proctalgia. AM was diagnosed through colonoscopy, and transanal resection with hemorrhoidectomy was performed. Conclusions: Management of AM is complicated by the lack of randomized trials. Resection surgery is the standard treatment, but there is no established protocol. Wide local excision may be an option for limited cases. Further research is needed to improve the management and treatment of AM. Early detection and complete surgical removal are crucial for enhancing survival in these patients.
Introducción: el melanoma anorrectal (MA) es un tipo raro y agresivo de tumor, cuya información científica es variada y poco concluyente. Su diagnóstico preoperatorio es un desafío debido a su rareza y a su similitud con otras afecciones anorrectales. Representa solo el 1.3% de los melanomas y afecta más a mujeres que a hombres. Aproximadamente el 20-30% de los casos de MA son amelanóticos, lo que complica su detección endoscópica y conduce a diagnósticos erróneos. El MA se confunde con hemorroides, pólipos y cáncer de recto en dos tercios de los pacientes debido a síntomas similares. Las causas y factores de riesgo del MA aún no se conocen bien, pero se sospecha que son diferentes de los melanomas cutáneos y oculares. El diagnóstico se realiza mediante biopsia y tinción inmunohistoquímica. La colonoscopía permite caracterizar las lesiones y el examen histológico es crucial para el diagnóstico definitivo. Caso clínico: mujer de 50 años con rectorragia y proctalgia. Se diagnosticó MA mediante colonoscopía y se realizó una resección transanal con hemorroidectomía. Conclusiones: el manejo del MA es complicado por la falta de ensayos aleatorizados. La cirugía de resección es el tratamiento habitual, pero no hay un protocolo establecido. La escisión local amplia puede ser una opción para casos limitados. Se necesita más investigación para mejorar el manejo y tratamiento del MA. La detección temprana y la extirpación quirúrgica completa son cruciales para mejorar la supervivencia en estos pacientes.
Assuntos
Neoplasias do Ânus , Melanoma , Neoplasias Retais , Humanos , Pessoa de Meia-Idade , Feminino , Neoplasias Retais/diagnóstico , Neoplasias Retais/cirurgia , Neoplasias Retais/patologia , Neoplasias do Ânus/diagnóstico , Neoplasias do Ânus/patologia , Neoplasias do Ânus/cirurgia , Melanoma/diagnóstico , Melanoma/patologia , Melanoma/cirurgia , Colonoscopia , HemorroidectomiaRESUMO
Liquid biopsy for circulating tumour cell (CTC) detection is generally unexplored in veterinary medicine. Dogs with highly aggressive and heterogeneous tumours, such as oral malignant melanoma (OMM), could benefit from studies involving size-based isolation methods for CTCs, as they do not depend on specific antibodies. This pilot study aimed to detect CTCs from canine OMM using Isolation by Size of Epithelial Tumor Cells (ISET), a microfiltration methodology, followed by immunocytochemistry (ICC) with Melan-A, PNL2, and S100 antibodies. Ten canine patients diagnosed by histopathology and confirmed as OMM by immunohistochemistry were enrolled, their prognostic data was assessed, and blood samples were collected for CTC analysis. Results have shown the detection of intact cells in 9/10 patients. ICC has shown 3/9 Melan-A-positive, 3/9 PNL2-positive, and 8/9 S100-positive patients, confirming the importance of opting for a multimarker assay. A significant number of negative-stained CTCs were found, suggesting their high heterogeneity in circulation. Microemboli stained with either PNL2 or S100 were found in a patient with a high isolated cell count and advanced clinical stage. Preliminary statistical analysis shows a significant difference in CTC count between patients with and without lymph node metastasis (p < .05), which may correlate with tumour metastatic potential. However, we recommend further studies with more extensive sampling to confirm this result. This pilot study is the first report of intact CTC detection in canine OMM and the first application of ISET in veterinary medicine, opening new possibilities for liquid biopsy studies in canine OMM and other tumours.
Assuntos
Doenças do Cão , Melanoma , Neoplasias Bucais , Células Neoplásicas Circulantes , Cães , Animais , Doenças do Cão/patologia , Doenças do Cão/sangue , Doenças do Cão/diagnóstico , Projetos Piloto , Células Neoplásicas Circulantes/patologia , Neoplasias Bucais/veterinária , Neoplasias Bucais/patologia , Neoplasias Bucais/diagnóstico , Neoplasias Bucais/sangue , Melanoma/veterinária , Melanoma/patologia , Melanoma/sangue , Melanoma/diagnóstico , Masculino , Feminino , Imuno-Histoquímica/veterinária , Biomarcadores Tumorais/sangueRESUMO
Xeroderma Pigmentosum (XP) is a genetic disorder characterized by photosensitivity, dyschromia, and high risk of skin cancer. From a clinical and histologic view, it can be difficult to diagnose cutaneous melanoma (CM) in XP patients and to define its resection margins. We aimed to study the role of PRAME (PReferentially Expressed Antigen in MElanoma) in differentiating intraepidermal CM from superficial atypical melanocytic proliferation of uncertain significance (SAMPUS) and evaluating the histological margins of CMs. We included XP patients. melanocitic and nonmelanocytic lesions with adjacent skin, and, as control groups, sun-damaged skin from non-XP individuals. Melanocytic lesions with a consensus diagnosis were grouped into CM, SAMPUS, or benign. The selected samples were PRAME-immunoshistochemically stained, and the ratio between immuno-positive cells/mm was recorded, according to Olds and colleagues for intraepidermal lesions. Lezcano and colleagues' method was used for intradermal lesions. Clinical data from XP patients were reviewed. All 9 patients were alive and well at the study closure, even those who developed melanoma metastases. Positive/diffuse PRAME expression was found in 29% (7/24) of intraepidermal CMs and 20% (1/5) SAMPUS samples. All 103 XP control samples and 24 adjacent lesions skin of non-XP patients were PRAME negative. This was a single-center and retrospective study, using a relatively small sample, limiting our conclusions. In XP patients' lesions, PRAME expression could help in the setting of challenging melanocytic tumors and surgical margins evaluation. It is also possible that the method can avoid overdiagnosis and, consequently, more aggressive treatment recommendation in unequivocal CM cases.
Assuntos
Antígenos de Neoplasias , Melanoma Maligno Cutâneo , Melanoma , Neoplasias Cutâneas , Xeroderma Pigmentoso , Humanos , Melanoma/metabolismo , Melanoma/diagnóstico , Melanoma/patologia , Antígenos de Neoplasias/metabolismo , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/diagnóstico , Masculino , Feminino , Xeroderma Pigmentoso/patologia , Xeroderma Pigmentoso/metabolismo , Xeroderma Pigmentoso/diagnóstico , Adulto , Adolescente , Pessoa de Meia-Idade , Criança , Imuno-HistoquímicaRESUMO
OBJECTIVES: ⢠Gather a panel of Latin American experts in testing and treating BRAF-melanoma. ⢠Describe the current landscape of BRAF-mutated melanoma in Latin America. ⢠Outline the current gaps in testing and recommend improvements for testing and treating BRAF-mutated melanoma in the region. INTRODUCTION: Melanoma prevalence in Latin America is lower than in high- and middle-income countries. However, recent data indicate that the region's incidence and mortality are rising, with more stage IV patients being diagnosed. According to international clinical practice guidelines, conducting BRAF-mutation testing in patients with stage III or stage IV melanoma and high-risk resected disease is imperative. Still, BRAF-mutation testing and targeted therapies are inconsistently available in the region. METHODS: Americas Health Foundation convened a meeting of Latin American experts on BRAF-mutated melanoma to develop guidelines and recommendations for diagnosis through treatment. RESULTS AND CONCLUSIONS: Some recommendations for improving diagnostics through improving access and reducing the cost of BRAF-mutation testing, enhancing efficiency in pathology laboratories, and creating country-specific local guidelines. The panel also gave treatment recommendations for neo-adjuvant therapy, adjuvant therapy, and therapy for patients with metastatic disease in Latin America.
Assuntos
Melanoma , Mutação , Proteínas Proto-Oncogênicas B-raf , Humanos , Melanoma/genética , Melanoma/terapia , Melanoma/diagnóstico , Proteínas Proto-Oncogênicas B-raf/genética , América Latina/epidemiologia , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/terapia , Neoplasias Cutâneas/diagnóstico , Guias de Prática Clínica como AssuntoRESUMO
ABSTRACT Objective: To evaluate the epidemiological, clinical, and imaging profile of lesions that mimic choroidal melanoma. Methods: Retrospective study of medical records of suspected choroidal melanoma lesions referred to the Ocular Oncology Service from the Universidade Federal de São Paulo, from 2014 to 2020. Demographic data, clinical history, and exams were evaluated. Results: A total of 104 patients (mean age: 65.57 ± 13.18; 49.04% female) were referred to our service with suspected choroidal melanoma. Of these, 32 (30.77%) were classified as pseudomelanoma, while 72 (69.23%) had a confirmed diagnosis of choroidal melanoma. Pseudomelanoma cases manifested in older individuals (p < 0.001), with smaller lesions in height (p < 0.001), anteroposterior diameter (p = 0.008), and lateral diameter (p = 0.003) on ultrasound. Pseudomelanoma cases were associated with higher frequencies of vitreous hemorrhage (p = 0.014) and lower rates of the presence of a mass (p = 0.001) and retinal detachment (p < 0.001). The main diagnoses of pseudomelanoma cases were choroidal nevus (40.63%), subretinal hemorrhage (18.75%) and choroidal neovascular membrane (18.75%). Conclusion: Almost one third of the cases referred with suspected choroidal melanoma were pseudomelanomas, which demonstrates that there is still a considerable path to improve the ability of general ophthalmologists to clinically discriminate melanoma from other conditions that can mimic it.
RESUMO Objetivo: Avaliar a frequência e o perfil epidemiológico, clínico e de imagem das lesões que simulam o melanoma de coroide. Métodos: Trata-se de estudo de revisão retrospectiva de prontuários de suspeita de lesões de melanoma de coroide de 2014 a 2020 no Setor de Oncologia Ocular da Universidade Federal de São Paulo. Foram avaliados dados demográficos, dados clínicos e exames complementares. Resultados: Um total de 104 pacientes (média de idade: 65,57 ± 13,18; 49,04% do sexo feminino) foram encaminhados ao nosso serviço com suspeita de melanoma de coroide. Destes, 32 (30,77%) foram classificados como pseudomelanoma, enquanto 72 (69,23%) tiveram diagnóstico confirmado de melanoma de coroide. Os casos de pseudomelanoma manifestaram-se em indivíduos mais velhos (p < 0,001) e apresentaram lesões menores em altura (p < 0,001), diâmetro anteroposterior (p = 0,008) e diâmetro lateral (p = 0,003) na ultrassonografia. Os casos de pseudomelanoma estão associados a maiores frequências de hemorragia vítrea (p = 0,014) e menores taxas de presença de massa (p = 0,001) e descolamento de retina (p < 0,001). Os principais diagnósticos dos casos de pseudomelanoma foram nevo (40,63%), hemorragia sub-retiniana (18,75%) e membrana neovascular coroidal (18,75%). Conclusão: Quase um terço dos casos encaminhados com suspeita de melanoma de coroide foram pseudomelanomas, o que demonstra que ainda há um caminho considerável para melhorar a habilidade do oftalmologista geral em discriminar clinicamente o melanoma de outras condições que o simulam.
Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Coroide/diagnóstico , Neoplasias da Coroide/patologia , Neoplasias da Coroide/epidemiologia , Melanoma/diagnóstico , Brasil , Hemorragia Retiniana/diagnóstico , Prontuários Médicos , Estudos Retrospectivos , Neovascularização de Coroide/diagnóstico , Diagnóstico Diferencial , Nevo/diagnósticoRESUMO
Malignant melanoma is considered the most aggressive skin cancer due to its rapid evolution and risk of metastasizing. Early diagnosis and treatment can save the patient's life, and the biological factors of each melanoma subtype must be studied for better patient management. Currently, it is known that nodular subtype melanoma is the most aggressive due to its rapid vertical evolution, with a minor epidermal component but an important dermal component, which increases the risk of lymph node and hematogenous metastasis. Clinical, histopathological, dermoscopic and biological characteristics can help with the diagnosis and subsequent treatment of these patients
Assuntos
Humanos , Masculino , Feminino , Melanoma/diagnóstico , Melanoma/patologia , Melanoma/prevenção & controle , Melanoma/epidemiologiaRESUMO
Introducción: El melanoma anorrectal es un tumor infrecuente que se caracteriza por ser agresivo y de mal pronóstico; constituye el 1 por ciento entre los tumores malignos colorrectales. Es más frecuente en pacientes femeninas de más de 50 años y alcanza un pico máximo en la octava década de la vida. Objetivo: Presentar las características clínicas de una paciente con melanoma del canal anorrectal. Caso clínico: Se estudió a una paciente femenina de 61 años que acudió a consulta de gastroenterología, por presentar constipación de varios meses de evolución, asociada a tenesmo rectal, anorexia, astenia y pérdida de peso de forma rápida y progresiva. Se le diagnosticó un melanoma anorrectal, en estado avanzado de la enfermedad, por lo que tuvo mala evolución. Conclusiones: Con una anamnesis y exploración física minuciosa, asociado al uso de los medios diagnósticos disponibles y un elevado índice de sospecha, se consigue con la paciente, que el estudio y diagnóstico se hicieran con prontitud y con ello imponer tratamiento(AU)
Introduction: Anorectal melanoma is an infrequent tumor characterized by aggressive and poor prognosis; it constitutes 1 percent among colorectal malignancies. It is more frequent in female patients over 50 years of age and reaches a maximum peak in the eighth decade of life. Objective: To present the clinical characteristics of a patient with melanoma of the anorectal canal. Clinical case: A 61-year-old female patient was studied, who came to the gastroenterology department for constipation of several months of evolution, associated with rectal tenesmus, anorexia, asthenia and rapid and progressive weight loss. He was diagnosed with anorectal melanoma, in advanced stage of the disease, for which he had poor evolution. Conclusions: With a thorough anamnesis and physical examination, associated with the use of the available diagnostic means and a high index of suspicion, it is achieved with the patient, that the study and diagnosis were made promptly and thus impose treatment(AU)
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Canal Anal/lesões , Neoplasias Colorretais/diagnóstico , Melanoma/diagnóstico , Neoplasias do Ânus , Colonoscopia/instrumentação , Constipação IntestinalRESUMO
Cure rate models have been widely studied to analyze time-to-event data with a cured fraction of patients. In this type of model, the number of concurrent causes is assumed to be a random variable. However, in practice, it is natural to admit that the distribution of the number of competing causes is different from individual to individual. Our proposal is to assume that the number of competing causes belongs to a class of a finite mixture of competing causes distributions. We assume the number of malignant cells follow a mixture of two power series distributions and suppose that the time to the event of interest follows a Weibull distribution. We consider the proportion of the cured number of competing causes depending on covariates, allowing direct modeling of the cure rate. The proposed model includes several well-known models as special cases and defines many new special models. An expectation-maximization algorithm is proposed for parameter estimation, where the expectation step involves the computation of the expected number of concurrent causes for each individual. A Monte Carlo simulation is performed to assess the behavior of the estimation method. In order to show the potential for the practice of our model, we apply it to the real medical data set from a population-based study of incident cases of cutaneous melanoma diagnosed in the state of São Paulo, Brazil, illustrating that the model proposed can outperform traditional models in terms of model fitting.
Assuntos
Melanoma , Neoplasias Cutâneas , Humanos , Modelos Estatísticos , Funções Verossimilhança , Análise de Sobrevida , Melanoma/diagnóstico , Brasil , Simulação por Computador , AlgoritmosRESUMO
Objective: This study aims to report the case of a 69-year-old female patient with a diagnosis of anorectal melanoma (AM) established by immunohistochemistry. Methods: Clinical case report, a descriptive and qualitative study. Results: The patient had a nodular and ulcerative lesion in the anal region, the imaging exams revealed an expansive lesion that affected the rectum and the vaginal wall. The chosen course of treatment was initial surgical intervention, the surgery and postoperative course progressed without complications, and the anatomopathological examination confirmed the diagnosis of invasive malignant melanoma of the distal rectum of anorectal transition. The anatomopathological examination confirmed the diagnosis of invasive malignant melanoma located in the distal rectum of the anorectal transition. Immunohistochemistry analysis showed infiltrative melanoma with microsatellites, as well as peri and intratumoral lymphocytic infiltrate, angiolymphatic invasion, and perineural invasion. The surgical resection margins, ovaries, posterior vaginal wall, and parametrium showed no signs of neoplastic involvement. Following the surgery, the patient began immunotherapy, which she is still undergoing. Conclusions: The survival rate of AM can be improved through various diagnostic and therapeutic modalities. However, further exploration of this topic through clinical studies is necessary to enhance both diagnosis and treatment. (AU)