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Melanocytic Nevi clinical trials

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NCT ID: NCT03054584 Recruiting - Melanocytic Nevi Clinical Trials

Genetic Basis of Melanocytic Nevi

Start date: June 26, 2017
Phase:
Study type: Observational

The objective of this protocol is to further elucidate the genetic mutations that drive melanocytic nevi (benign melanocytic neoplasms, moles). This will be performed by whole genome, whole exome, or targeted sequencing of de-identified specimens. Herein, the investigators plan to isolate DNA from de-identified skin biopsy specimens and blood samples: 1. From melanocytic nevi collected by skin biopsy (a shave or punch biopsy). A part of the tissue will be submitted for routine diagnostic dermatopathology and investigational histomorphologic and immunohistochemical analysis. 2. From corresponding normal tissue (blood). DNA isolated from blood will be used as a normal control when analyzing sequencing data to identify somatic mutations in lesional tissue.

NCT ID: NCT00339222 Completed - Melanoma Clinical Trials

Family Study of Melanoma in Italy

Start date: November 5, 2001
Phase:
Study type: Observational

During the course of a case-control study of melanoma conducted at the Bufalini Hospital, Cesena, Italy in the years 1994-1996, 20 families with 2 or 3 melanoma cases were identified and studied. The area where the study was conducted showed the steepest increase in melanoma incidence in Mediterranean populations between the years 1987 and 1997. Clinical characteristics of melanoma in the families studied were similar to those typically described in fair-skinned populations, but no relevant mutations in the coding regions of known candidate genes from melanoma have been found. Lack of findings could be due to the modest number of families and the small number of affected CMM cases examined. We cannot exclude the possibility of alterations in introns, splicing sites or promoter regions. Also epigenetic factors could affect the expression of the gene products we studied. Alternatively, germline alterations of a gene(s) other than the candidate genes we analyzed may play an important role in melanoma predisposition in this population. A large number of families is needed to test these hypotheses. These additional families could provide an important contribution to the understanding o melanoma development. In fact, this population does not generally have the host characteristics that are usually associated with higher risk for melanoma (e.g., light skin color, red hair, blue eyes, multiple freckles, tendency to sunburn, etc.) but do have a relative high frequency of dysplastic nevi and melanoma. The main objective of this study is to recruit more families at the Bufalini Hospital, Cesena, Italy in order to reach a larger sample size. Recently, 16 potential melanoma-prone families have been identified through patient's or physicians' referrals by the Dermatologists at the Bufalini Hospital. The dermatologists have maintained close relationships with members of these families and are confident that these subjects would be willing to participate in a study if contacted. The first goal of our study is to contact this family group and verify their willingness to participate in the study. In addition, new families could be identified and recruited. We propose to conduct a pilot project. We estimate recruitment of approximately 25 families with 2 or more melanoma cases in first -degree relatives over a one-year period, including the 16 families already identified and approximately 10 new kindreds. At the end of the pilot phase we will determine the feasibility of continuing recruitment.

NCT ID: NCT00288938 Completed - Melanocytic Nevi Clinical Trials

Natural History Study of Moles and Suspicious Melanoma

Start date: February 3, 2006
Phase: N/A
Study type: Observational

Background: - Melanocytic nevi, or "moles," are non-cancerous growths of a type of skin cell called a melanocyte. - Large congenital melanocytic nevi (LCMN) are a special type of mole that begins to grow before birth and is larger than moles that develop after birth. - Determining how melanocytes in moles and LCMNs differ from normal melanocytes may increase the ability to predict whether a mole will give rise to a melanoma (a type of skin cancer) Objectives: - To understand how melanomas develop, by studying moles, LCMNs, and pigmented skin lesions that are suspicious for melanoma - To develop better criteria for diagnosing melanoma, particularly by using a device called a digital dermatoscope (a special camera, connected to a computer, that takes pictures of moles when they are magnified and illuminated) Eligibility: - Children 5 years old or older with an LCMN - Adults 18 years old or older with 100 or more moles larger than 2 mm in diameter and at least one 4 mm or more - Adults 18 years old or older with a pigmented lesion suspicious for melanoma Design: - Patients' personal and family health history is obtained. - Patients are examined by investigative team doctors, and several lesions are examined with a dermatoscope. - Additional photographs of part or all of the skin surface may be taken. - Some lesions may be biopsied. - Additional tests or examinations may be recommended. - Patients are followed periodically for skin or physical examinations, photography, laboratory and imaging evaluations, and possible skin biopsies. - Children may undergo brain magnetic resonance imaging (MRI)