RESUMEN
BACKGROUND: Few studies have addressed prognostic markers and none has correlated molecular status and prognosis in vulvar melanomas. OBJECTIVES: To evaluate the clinicopathological features of 95 cases of vulvar melanoma. METHODS: p53, CD117, Ki-67, neurofibromin, brafv600e and nrasq61r immunostains, and molecular analyses by either targeted next-generation or direct sequencing, were performed on available archival materials. RESULTS: Molecular testing detected mutations in KIT (44%), BRAF (25%), NF1 (22%), TP53 (17%), NRAS (9%) and TERT promoter (9%). Co-mutation of KIT and NF1 and of KIT and NRAS were identified in two and one cases, respectively. KIT mutations were significantly associated with better progression-free survival in univariate analyses. In multivariate analyses CD117 expression was significantly associated with better progression-free survival. Tumour thickness was significantly associated with worse progression-free and overall survival, and perineural invasion significantly correlated with reduced melanoma-specific survival and reduced overall survival. Cases were from multiple centres and only a subset of samples was available for molecular testing. CONCLUSIONS: KIT mutations and CD117 overexpression are markers of better progression-free survival. In addition to its prognostic value, molecular testing may identify cases that might respond to targeted agents or immunotherapeutic approaches.
Asunto(s)
Biomarcadores de Tumor/genética , Melanoma/genética , Mutación/genética , Proteínas Proto-Oncogénicas c-kit/genética , Neoplasias de la Vulva/genética , Adulto , Anciano , Anciano de 80 o más Años , Supervivencia sin Enfermedad , Femenino , Humanos , Estimación de Kaplan-Meier , Melanoma/mortalidad , Persona de Mediana Edad , Pronóstico , Proteínas Proto-Oncogénicas B-raf/genética , Proteínas Proto-Oncogénicas c-kit/metabolismo , Estudios Retrospectivos , Neoplasias de la Vulva/mortalidad , Adulto JovenRESUMEN
Parvovirus B19 infections in adults are usually associated with nonspecific and mild symptoms. However, cases presenting with a lupus-like syndrome have been described, leading to the hypothesis that parvovirus infection can induce connective tissue disease. Various histopathologic features of cutaneous manifestations of parvovirus have been reported, including features which overlap with those of connective tissue disease. Herein, we discuss an unusual case of Parvovirus B19 infection in a middle-aged woman. The biopsy results showed granulomatous vasculitis and were consistent with the previously described superantigen id reaction. This case demonstrates that infectious causes should be considered in the differential diagnosis for granulomatous vasculitis and clinicopathologic correlation is required for accurate diagnosis. We also provide a review of the literature highlighting the possible role of parvovirus in induction of a connective tissue disease-like presentation.
Asunto(s)
Enfermedades del Tejido Conjuntivo/diagnóstico , Infecciones por Parvoviridae/diagnóstico , Parvovirus B19 Humano/aislamiento & purificación , Biopsia , Enfermedades del Tejido Conjuntivo/patología , Diagnóstico Diferencial , Femenino , Humanos , Persona de Mediana Edad , Infecciones por Parvoviridae/patologíaRESUMEN
Lasiodiplodia species are environmental fungi that have been reported as a cause of infection in both immunocompetent and immunocompromised patients. We present a case of fungal osteomyelitis caused by Lasiodiplodia species in a patient with multiple myeloma after autologous stem cell transplant. The patient was successfully treated with a combination of surgery and oral voriconzole. To the best of our knowledge, this is the first reported case of fungal osteomyelitis caused by Lasiodiplodia species.
Asunto(s)
Antifúngicos/uso terapéutico , Ascomicetos/aislamiento & purificación , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Mieloma Múltiple/terapia , Osteomielitis/microbiología , Osteomielitis/terapia , Anciano , Anfotericina B/administración & dosificación , Anfotericina B/uso terapéutico , Amputación Quirúrgica , Antifúngicos/administración & dosificación , Antineoplásicos/administración & dosificación , Antineoplásicos/uso terapéutico , Biopsia , Recuento de Células Sanguíneas , Resultado Fatal , Humanos , Huésped Inmunocomprometido , Imagen por Resonancia Magnética , Masculino , Osteomielitis/sangre , Osteomielitis/patología , Piel/patología , Dedos del Pie/patología , Trasplante Autólogo/efectos adversos , Negativa del Paciente al Tratamiento , Voriconazol/administración & dosificación , Voriconazol/uso terapéuticoRESUMEN
The granulomatous variant of the pigmented purpuric dermatoses (PPDs) is a rare and infrequently described condition, with a total of 16 cases published to date. We report a case of granulomatous PPD in a 59-year-old white woman who demonstrated involvement of the arms, legs, chest and back with concurrent hyperlipidaemia. Histopathological examination revealed a lymphohistiocytic infiltrate obscuring the dermoepidermal junction, and loose granuloma formation in the superficial dermis, with extravasated erythrocytes. Other conditions within the differential diagnosis such as atypical infection, papular sarcoidosis and generalized granuloma annulare were excluded on clinical and histological grounds. Our patient represents the ninth patient reported to have granulomatous PPD with coexisting hyperlipidaemia, and the fifth patient with granulomatous PPD and a lichenoid infiltrate.