Association of TYR SNP rs1042602 with Melanoma Risk and Prognosis.

Cutaneous melanoma is the most aggressive of skin tumors. In order to discover new biomarkers that could help us improve prognostic prediction in melanoma patients, we have searched for germline DNA variants associated with melanoma progression. Thus, after exome sequencing of a set of melanoma patients and healthy control individuals, we identified rs1042602, an SNP within , as a good candidate.

Survival analysis and sentinel lymph node status in thin cutaneous melanoma: A multicenter observational study.

Mitotic rate is no longer considered a staging criterion for thin melanoma in the 8th edition of the American Joint Committee on Cancer Staging Manual. The aim of this observational study was to identify prognostic factors for thin melanoma and predictors and prognostic significance of sentinel lymph node (SLN) involvement in a large multicenter cohort of patients with melanoma from nine tertiary care hospitals. A total of 4249 consecutive patients with thin melanoma diagnosed from January 1, 1998 to December 31, 2016 were included.

Sleep-Disordered Breathing Is Independently Associated With Increased Aggressiveness of Cutaneous Melanoma: A Multicenter Observational Study in 443 Patients.

Background: Sleep-disordered breathing (SDB) has been associated with a greater incidence and mortality of cancer, although such findings are inconsistent. However, no large studies are currently available to investigate this association in patients with a specific type of cancer. This study seeks to assess potential relationships between SDB severity and aggressiveness markers of cutaneous melanoma.

CDKN2A germline alterations in melanoma patients with personal or familial history of pancreatic cancer.

CDKN2A germline mutations increase the risk of melanoma development and are present in 20 and 10% of familial and multiple melanoma cases, respectively. Pancreatic cancer has been associated with CDKN2A in some populations and, accordingly, its presence in first-degree or second-degree relatives of a melanoma patient is considered as a criterion for genetic testing. In this study, we show that in an area with low melanoma incidence, CDKN2A germline mutations in patients with melanoma and personal or family history of pancreatic cancer are mainly present in the setting of familial or multiple melanoma cases.

Update on melanoma epigenetics.

Purpose Of Review: Over the last years, our understanding in molecular biology of melanoma has grown significantly and many genetic alterations have been identified affecting melanoma pathogenesis. This growing evidence has led to the development of targeted therapies which are showing promising clinical results. In addition to genetic alterations, an increasing number of studies have recently demonstrated the role of epigenetics in melanoma development and progression.

An immunohistochemical study of verrucous hemangiomas.

Background: According to the International Society for the study of vascular Anomalies, vascular anomalies are classified as vascular neoplasms and vascular malformations. In some vascular lesions, categorization as a neoplasm or malformation has not been established with confidence so far. In order to further clarify the nosology of verrucous hemangioma, we studied 13 cases.

Microphthalmia with linear skin defects syndrome.

Microphthalmia with linear skin defects (MLS) or microcornea, dermal aplasia and sclerocornea (MIDAS) syndrome is a rare X-linked-dominant disorder. We present a patient with agenesis of corpus callosum, ocular abnormalities, and multiple skin defects. The cytogenetic studies of the MLS critical region (Xp22.