Dermoscopic aspects of syringocystadenoma papilliferum associated with nevus sebaceus

O siringocistoadenoma papilífero é uma neoplasia anexial benigna rara, com frequente diferenciação apócrina. Localiza-se preferencialmente no couro cabeludo e está associado ao nevo sebáceo em 40% dos casos. Apesar da variabilidade clínica, a histologia é característica. Há relatos da dermatoscopia de tumores anexiais, como poroma écrino, hidradenoma e angio-histiocitoma; porém, até o momento, não há descrição da dermatoscopia do siringocistoadenoma. Apresentamos aspectos dermatoscópicos de um caso de siringocistoadenoma associado a nevo sebáceo, visualizando-se padrão vascular polimorfo e vasos em ferradura.Syringocystadenoma papilliferum is a rare benign adnexal tumor that frequently shows apocrine differentiation. It usually develops on the scalp and is associated with a nevus sebaceus in 40% of cases. Although the clinical presentation may differ, its histology is characteristic. Reports have been made of dermoscopy used in cases of adnexal tumors such as eccrine poromas, hidradenomas and angiohistiocytomas; however, up to the present moment there have been no reports of dermoscopy in a case of syringocystadenoma. This paper describes the dermoscopic features found in a case of syringocystadenoma associated with a nevus sebaceus, revealing a polymorphous vascular pattern including a horseshoe-shaped arrangement of vessels

The REASON score: an epigenetic and clinicopathologic score to predict risk of poor survival in patients with early stage oral squamous cell carcinoma

Background Oral squamous cell carcinoma (OSCC) is a capricious cancer with poor survival rates, even for early-stage patients. There is a pressing need to develop more precise risk assessment methods to appropriately tailor clinical treatment. Genome-wide association studies have not produced a viable biomarker. However, these studies are limited by using heterogeneous cohorts, not focusing on methylation although OSCC is a heavily epigenetically-regulated cancer, and not combining molecular data with clinicopathologic data for risk prediction. In this study we focused on early-stage (I/II) OSCC and created a risk score called the REASON score, which combines clinicopathologic characteristics with a 12-gene methylation signature, to predict the risk of 5-year mortality. Methods We combined data from an internal cohort (n = 515) and The Cancer Genome Atlas (TCGA) cohort (n = 58). We collected clinicopathologic data from both cohorts to derive the non-molecular portion of the REASON score. We then analyzed the TCGA cohort DNA methylation data to derive the molecular portion of the risk score. Results 5-year disease specific survival was 63% for the internal cohort and 86% for the TCGA cohort. The clinicopathologic features with the highest predictive ability among the two the cohorts were age, race, sex, tobacco use, alcohol use, histologic grade, stage, perineural invasion (PNI), lymphovascular invasion (LVI), and margin status. This panel of 10 non-molecular features predicted 5-year mortality risk with a concordance (c)-index = 0.67. Our molecular panel consisted of a 12-gene methylation signature (i.e., HORMAD2, MYLK, GPR133, SOX8, TRPA1, ABCA2, HGFAC, MCPH1, WDR86, CACNA1H, RNF216, CCNJL), which had the most significant differential methylation between patients who survived vs. died by 5 years. All 12 genes have already been linked to survival in other cancers. Of the genes, only SOX8 was previously associated with OSCC; our study was the first to link the remaining 11 genes to OSCC survival. The combined molecular and non-molecular panel formed the REASON score, which predicted risk of death with a c-index = 0.915. Conclusions The REASON score is a promising biomarker to predict risk of mortality in early-stage OSCC patients. Validation of the REASON score in a larger independent cohort is warranted

Primary ewing sarcoma of the anterior mandible localized to the midline

Ewing sarcoma is a malignant, small, round blue-cell tumor of the bone that is usually located in the long bones and the pelvis. Fewer than 3% of all Ewing sarcomas originate in the head and neck region and these are mostly located in the posterior mandible. We report the case of a 17-year-old girl with a primary Ewing sarcoma localized at the midline of the anterior mandible