Population-based analysis of the prevalence of BRAF mutation in patients diagnosed with cutaneous melanoma and its significance as a prognostic factor.

The prevalence of BRAF mutation has been reported in between 38% and 48% of melanoma patients, based on mainly Stage III or metastatic melanoma, however, information based on population-based studies is scarce. We performed a population-based retrospective cohort study to determine the prevalence of the BRAF mutation in patients diagnosed with in situ and infiltrating cutaneous malignant melanoma in the province of Girona between 2009 and 2011. Using the database of the Girona Cancer Registry, we performed BRAF mutation analysis based on paraffin-embedded tissue. This data was then correlated with other known clinical and histological prognostic factors for survival. We found 286 incident cases of cutaneous melanoma in the Girona Cancer Registry database. Excluding missing cases, BRAF-mutated patients constituted 38.9% of "in situ" melanoma cases and 53.8% of invasive melanoma cases. Five-year relative survival was not statistically different between BRAF-mutated patients (93.6%; 95% CI: 87.1-100.5) and non-mutated patients (84.3%, 95% CI: 75.3-94.8). Only stage was significant as a prognostic factor for survival based on multivariate analysis. From our population-based study, we conclude that BRAF mutation is not an independent prognostic factor for melanoma survival.

Frequency and Clinicopathological Profile Associated with Braf Mutations in Patients with Advanced Melanoma in Spain.

Real-world data on BRAF mutation frequency in advanced melanoma are lacking in Spain. Moreover, data available on clinicopathological profile of patients with advanced BRAF-mutant melanoma are currently limited. This study aimed to assess the frequency of BRAF V600 mutations in Spanish patients with advanced or metastatic melanoma and to identify clinical and histopathological features associated with BRAF-mutated tumors. A multicenter, cross-sectional epidemiological study was conducted in 33 Spanish hospitals in adult patients with stage IIIc/IV melanoma. A total of 264 patients were included. The median age was 68 years and 57% were male. Melanoma mainly involved skin with intermittent (40.4%) and low or no sun exposure (43.5%). Most patients (85.6%) had stage IV disease (M1a: 19.3%; M1b: 13.3%; M1c: 22.7%). Serum lactate dehydrogenase levels were elevated in 20% of patients. Superficial spreading melanoma was the most frequent histological type (29.9%). Samples were predominantly obtained from metastases (62.7%), mostly from skin and soft tissues (80%). BRAF mutation analysis was primarily performed using the Cobas 4800 BRAF V600 Mutation Test (92.8%) on formalin-fixed, paraffin-embedded tissue (95.8%). BRAF mutations were detected in 41.3% of samples. Multivariate analysis identified age (odd ratio [OR] 0.975) and stage IV M1a (OR 2.716) as independent factors associated with BRAF mutation. The frequency of BRAF mutations in tumor samples from patients with advanced or metastatic melanoma in Spain was 41.3%. BRAF mutations seem to be more frequent in younger patients and stage M1a patients. This study provides the basis for further investigation regarding BRAF-mutated advanced melanoma in larger cohorts.

Paniculitis lúpica: características clínico-patológicas de una serie de 12 pacientes / Lupus panniculitis: Clinicopathological features of a series of 12 patients

Antecedentes y objetivo: La paniculitis lúpica (PL) es una forma infrecuente de lupus eritematoso cutáneo crónico, cuyo diagnóstico requiere una adecuada correlación clínico-patológica, especialmente si constituye la primera manifestación de lupus eritematoso (LE). Dependiendo del estado evolutivo de las lesiones, la biopsia puede mostrar cambios poco específicos que dificultan el diagnóstico. Existen pocas series publicadas sobre esta entidad. Aportamos la experiencia de nuestro centro en su diagnóstico y manejo. Materiales y métodos: Estudio clínico-patológico retrospectivo descriptivo de 12 casos diagnosticados de PL en nuestro servicio. Resultados: Todos los pacientes tenían placas y/o nódulos dolorosos recurrentes, característicamente localizados en la zona proximal de las extremidades, la cara y el cuero cabelludo. En la biopsia había paniculitis de predominio lobulillar con infiltrados linfoplasmocitarios. Esto, junto con la coexistencia de otras manifestaciones clínicas de LE y el estudio de expresión de CD123, permitió establecer el diagnóstico de PL. En 3 pacientes la PL fue la primera manifestación de LE. Conclusiones: La PL es una entidad de difícil diagnóstico. La presencia de otras manifestaciones clínicas y/o histológicas de lupus y la utilización de técnicas inmunohistoquímicas pueden ser útiles para el diagnóstico diferencial con otras paniculitis

Background and objective: Lupus panniculitis (LP) is a rare variant of chronic cutaneous lupus erythematosus, which diagnosis requires clinicopathological correlation, especially in those patients without any other manifestation of lupus erythematosus (LE). According to the phase when the biopsy is performed, histological findings can be non-specific. Few series have been published to date. Hence, we report our own experience in the diagnosis and management of this disease. Materials and methods: We conducted a retrospective descriptive clinicopathological study of 12 patients diagnosed in our centre. Results: All the patients had painful and recurrent plaques and/or nodules, with a predilection for proximal extremities, face and scalp. Histopathologic examination showed mostly lobular panniculitis and lymphoplasmacytic infiltrate. For the diagnosis, we also considered the coexistence of other clinical manifestations of LE as well as the expression of CD123 by immunohistochemistry. In 3 patients, LP was the first manifestation of LE. Conclusions: The diagnosis of LP can be difficult. The presence of other clinical and/or histological manifestations of LE along with immunohistochemistry techniques could help in the differential diagnosis with other panniculitis

Lupus panniculitis: Clinicopathological features of a series of 12 patients. / Paniculitis lúpica: características clínico-patológicas de una serie de 12 pacientes.

BACKGROUND AND OBJECTIVE: Lupus panniculitis (LP) is a rare variant of chronic cutaneous lupus erythematosus, which diagnosis requires clinicopathological correlation, especially in those patients without any other manifestation of lupus erythematosus (LE). According to the phase when the biopsy is performed, histological findings can be non-specific. Few series have been published to date. Hence, we report our own experience in the diagnosis and management of this disease. MATERIALS AND METHODS: We conducted a retrospective descriptive clinicopathological study of 12 patients diagnosed in our centre. RESULTS: All the patients had painful and recurrent plaques and/or nodules, with a predilection for proximal extremities, face and scalp. Histopathologic examination showed mostly lobular panniculitis and lymphoplasmacytic infiltrate. For the diagnosis, we also considered the coexistence of other clinical manifestations of LE as well as the expression of CD123 by immunohistochemistry. In 3 patients, LP was the first manifestation of LE. CONCLUSIONS: The diagnosis of LP can be difficult. The presence of other clinical and/or histological manifestations of LE along with immunohistochemistry techniques could help in the differential diagnosis with other panniculitis.