Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thirteen families have been studied clinically as the basis for a linkage study of susceptibility to cutaneous melanoma. Previous studies have shown that a number of families with predisposition to melanoma have abnormal naevi, now known as the atypical mole syndrome (AMS) phenotype. Many groups performing linkage studies using families selected from geographical areas with higher rates of melanoma have concentrated on the diagnosis of melanoma to identify presumptive gene carriers. In the UK, in the absence of extended families with multiple cases of melanoma, we have attempted to identify gene carriers through the presence of the AMS phenotype. Previously the AMS phenotype has been poorly defined and so we have developed a scoring system to define the AMS in an attempt to allow for variation in expression among gene carriers. In this report, we document the clinical characteristics of all 13 families and the use of our scoring system. The pattern of inheritance within these selected families of the AMS phenotype with or without melanoma is consistent with a dominant gene.
Melanoma Res 1994 Aug
PMID:Family studies in melanoma: identification of the atypical mole syndrome (AMS) phenotype. 795 Mar 55

Melanoma may cluster in families with 'family cancer syndromes' in which there is a predisposition to a variety of different tumours. Other families seem vulnerable to melanoma alone. In the majority of these families, the propensity to melanoma is associated with the presence of abnormal melanocytic naevi, the so-called atypical mole syndrome (AMS) phenotype. However, in a smaller number of families, individuals are susceptible to melanoma but have normal naevi. There appears, therefore, to be clinical (and probably genetic) heterogeneity. Segregation analysis does not support a predisposition by single dominant gene as an explanation for the AMS/melanoma syndrome. To date, a single gene which is clearly important for susceptibility to melanoma has not been identified. Karyotypic studies of melanoma tumours have pointed to chromosomes 1, 6, 7, 9 and 10 as possible sites for melanoma related genes. Loss of heterozygosity studies have suggested that chromosome 9 may carry a tumour suppressor gene important in familial disease, and linkage studies appear to confirm this. It is not yet clear, however, what percentage of familial melanoma is attributable to this gene. A more longstanding suggestion that a gene on chromosome 1 may be important has not been confirmed, but a chromosome/gene may be responsible for susceptibility in a small subset of melanoma families. Even within AMS families, there is a lack of concordance between the AMS phenotype and susceptibility to melanoma. This might be explained either by the effects of modifying genes, or the environment.
 ...
PMID:Genetics of melanoma. 798 47

Normal or malignant melanocytes interact with the microenvironment through the release of soluble factors from cells and through direct cell-cell contact. Melanoma cells produce a large number of different growth factors and cytokines that affect angiogenesis, stroma formation, motility, and the inflammatory and immune response. Most of the angiogenic growth factors produced by melanoma cells are also mitogenic for fibroblasts. The mechanisms and the receptors involved in direct cell-cell contacts of melanocytes and melanoma cells are largely unknown, but the regulatory role of keratinocytes for melanocytic cells appears at several levels. Keratinocytes induce a dendritic morphology in melanocytes, and control proliferation to maintain a constant keratinocyte/melanocyte ratio during exponential growth. Expression of cell surface adhesion receptors is controlled by keratinocytes on melanocytes and nevus cells but not on advanced melanoma cells. These studies underline the complex interactions between skin cells. The escape of melanocytes from the control by keratinocytes may be a hallmark of nevus cells, and the constitutive production of various growth factors and cytokines appears to represent a major characteristic of melanoma cells.
 ...
PMID:Interactions of melanocytes and melanoma cells with the microenvironment. 806 24

We report a case of primary cutaneous melanoma with the incidental finding of a lung metastasis 27 years following the original diagnosis. The case is exceptional in that it is a late metastasis of a melanoma that arose in association with a halo giant congenital nevus. The original tumor was a large dermal/subcutaneous nodule composed of very well-differentiated cells reminiscent of type B nevomelanocytes. The metastasis displayed similar histology. This case emphasizes the unpredictable behavior of malignant melanoma. In cases with 'unusual' histology such as this one, the usual prognostic parameters are less helpful in predicting survival. Melanoma should be included in the differential diagnosis of an undiagnosed lesion suspicious for metastasis even if the primary was removed in the remote past.
 ...
PMID:Very late metastasis (27 years) of cutaneous malignant melanoma arising in a halo giant congenital nevus. 807 46

The results of a quantitative analysis of nucleolar organizer regions (NORs) in a group of 45 nevi and 45 melanoma are presented. Mean value of nucleolar organizer regions in nevi was 1.29 and the standard error 0.088. Melanoma had mean value of 3.90 with a standard error of 1.542. Student's t test revealed a statistically significant difference between these two groups of benign and malignant melanocytic lesions of skin (P < 0.001), with regard to the number of NORs. In view of these results and those from the literature, the diagnostic value of the number of NORs in distinguishing benign from malignant melanocytic lesions of skin has been confirmed.
 ...
PMID:[Quantitative analysis of nucleolar organizer regions in nevi and melanomas]. 813 68

Cell surface melanoma-associated antigens can mediate cell-cell or cell-substrate adhesion, signal transduction, proteolysis, or immune recognition and play a key role in determining invasive and metastatic competence of the tumor cells. The melanoma-associated antigen, A32, was defined by a murine monoclonal antibody and was immunoprecipitated as a single 113 kDa integral membrane glycoprotein containing sialic acid and HNK-1 carbohydrate moieties. Immunohistochemistry revealed the presence of A32 antigen on most melanomas and nevi but not on normal epidermal melanocytes. Of the normal tissues tested, only endothelium, smooth muscle, cerebellum, and hair follicles expressed the A32 antigen. Tryptic peptides of the A32 antigen obtained after immunoaffinity chromatography showed sequence identity to MUC18 antigen, a member of the immunoglobulin supergene family. Melanoma cells adhered to affinity-purified A32 antigen immobilized to a solid phase, and the adhesion was blocked by either soluble A32 antigen or monoclonal antibody against the HNK-1 carbohydrate moiety. These findings, together with the observation that A32 antigen is concentrated in cell-cell contact borders, suggest that this antigen is an adhesion molecule with a possible role in tumor invasion and metastasis.
 ...
PMID:Isolation and functional characterization of the A32 melanoma-associated antigen. 816 2

Familial atypical multiple mole-melanoma (FAMMM) syndrome is characterized by the familial occurrence of malignant melanoma of the skin in combination with multiple atypical precursor naevi. In the present study we performed linkage analysis in seven Dutch FAMMM families to define the relationship between the ultimate phenotype melanoma and the postulated precursors, atypical (dysplastic) naevi. Various models were defined, varying from melanoma only to various combinations of melanoma and atypical naevi, reflecting the FAMMM phenotype. Using 124 microsatellite markers spread across all autosomes, hints for linkage were obtained between several chromosome 9p markers and a melanoma locus (D9S171; odds for linkage, 275:1). In a model including melanoma and a florid manifestation of atypical naevi a considerably higher lod score was obtained with D9S171 (odds for linkage, 4365:1); models including milder manifestations yielded less support. We conclude that, also in the Dutch FAMMM families, a melanoma gene is located on the short arm of chromosome 9 and that multiple atypical naevi, at least in certain cases, seems to be a component of the FAMMM phenotype.
Melanoma Res 1993 Aug
PMID:Linkage analysis in Dutch familial atypical multiple mole-melanoma (FAMMM) syndrome families. Effect of naevus count. 821 60

Every physician's office should be a melanoma detection station. Identification and surgical excision of early melanoma is today's best answer to reducing the death rate from this treacherous disease. Public awareness of melanoma is gaining momentum. Melanoma education for physicians is vital if the battle against melanoma is to be successful. This presentation is a challenge to all physicians and students of medicine to identify patients at risk for melanoma and to follow up with a skin scan to search for suspicious spots on all patients with risk factors for melanoma as a part of their physical examination. We need to teach individuals at risk to do self-examination, to report immediately any recent growth changes in an existing mole or any recently acquired pigmented lesion, and to practice the rules of safe sun exposure. Because securing a suitable specimen of tissue for biopsy and proper interpretation of sections are paramount in patient management and understanding prognosis, we present guidelines for performing a proper biopsy.
 ...
PMID:Think melanoma. 827 34

Malignant melanomas may arise in the uveal tract, the conjunctiva, the skin of the eyelid, or the orbit. Risk factors so far identified include pre-existing choroidal naevi for uveal melanomas, primary acquired melanosis (PAM) for conjunctival tumours, and ocular and oculodermal melanocytosis for uveal and orbital lesions. The atypical mole syndrome (AMS) is associated with uveal and conjunctival melanomas, especially when the ocular lesions are multiple or familial. AMS patients should be screened for ocular melanomas. Conjunctival melanomas are managed by excision with or without adjunctive beta-irradiation. Circumscribed tumours have a better prognosis than diffuse and multifocal lesions arising in acquired melanosis and attempts should be made to limit the progress of the latter variant of the disease by treating PAM with cryotherapy. The most significant prognostic factor in uveal melanoma is the size of the tumour at presentation. Early dissemination is the rule and every effort should be made to distinguish a melanoma from a naevus as soon as possible. Small and medium-sized melanomas respond well to focal treatments chosen according to the size and location of the tumour. The techniques employed include photocoagulation, radioactive plaque therapy, proton beam radiotherapy and surgical resection.
Melanoma Res 1993 Oct
PMID:Surgical treatment of ocular melanoma. 829 86

Dysplastic naevi (DN) are the major precursor lesions of malignant melanoma, yet the presumed mode of inheritance or genetic aetiology of DN remains controversial. The inheritance pattern of DN in families from a randomly selected population of 26 dysplastic naevus patients was investigated by estimating the segregation ratio in families ascertained through an offspring with DN (incomplete ascertainment). For families ascertained through a parent with DN (complete ascertainment) the transmission pattern was examined by comparing the observed number of affected offspring to the expected number using a chi 2 goodness-of-fit test. Results from the chi 2 tests and the estimated segregation ratio of 0.52 (95% confidence interval: 0.31, 0.73) suggest that the inheritance pattern for dysplastic naevi in these families is consistent with autosomal dominant transmission, although the present study was limited because of a small sample size. The findings, therefore, need to be confirmed by a much larger study that is able to test more rigorously specific genetic hypotheses.
Melanoma Res 1993 Feb
PMID:The inheritance pattern of dysplastic naevi in families of dysplastic naevus patients. 847 33


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>