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

In order to assess a relationship between small congenital nevocellular nevi and cutaneous melanoma, histologic features commonly associated with congenital nevi were sought in 234 melanomas. The detection of one or more histologic features of congenital nevi in 8.1% (19/234) of melanoma specimens was directly related to the number of slides and tissue sections with melanoma available for review, the predominance of superficial spreading melanoma (SSM) and the historic relationship to a preexisting pigmented nevus at the tumor site. The histologic association was inversely related to melanoma thickness and tumor location on the lower extremities. The observed frequency of histologic association was estimated to be approximately 4,000 to 13,000 times greater than expected on the basis of surface area by chance alone. These findings suggest that small congenital nevi may be precursors for at least some cases of cutaneous melanoma. The strength of histologic association is highly dependent on the specificity of methods used for detecting congenital nevi in melanoma specimens.
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PMID:The malignant potential of small congenital nevocellular nevi. An estimate of association based on a histologic study of 234 primary cutaneous melanomas. 706 46

There are 4 distinct forms of primary cutaneous melanoma: superficial spreading melanoma (SSM), lentigo maligna melanoma (LMM), acral lentiginous melanoma (ALM) and nodular melanoma (NM); they differ in case history, clinic and histology. Only nodular melanoma shows a one-phase growth pattern: intraepidermal growth only occurs in connection with dermal invasion. The prognosis of the different melanoma forms however does not depend on the melanoma type but in the first place on the depth of invasion. The location of the primary and the surgical procedure are decisive only in the second place besides further histological features. Therefore early recognition is the most important method to further increase the survival rate of primary cutaneous melanoma: by periodical precautionary clinical examination of the high risk groups and by histological examination of suspicious pigmented nevi.
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PMID:[The primary cutaneous melanoma. Clinical aspects and histopathology, basis for prognosis]. 710 67

A 51-year-old white man had the B-K mole syndrome (multiple large atypical cutaneous nevi of the upper part of the trunk and extremities, inherited as an autosomal dominant trait, and thought to be more susceptible to malignant transformation), so named after two patients in whom the syndrome was first observed. Two cutaneous malignant melanomas (thigh and back) and an ocular malignant melanoma (ciliary body and iris) simultaneously developed. Patients with B-K mole syndrome have been known to have a very high risk for the development of cutaneous melanoma (including multiple primary cutaneous melanomas) and multiple primary malignancies. There may be a propensity in these patients for development of ocular melanomas.
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PMID:B-K mole syndrome. Cutaneous and ocular malignant melanoma. 741 75

We conducted this study to determine whether occurrence of primary uveal melanoma in the setting of familial atypical mole and melanoma (F A M-M) syndrome (an autosomal dominant cutaneous preneoplastic syndrome) follows a pattern of a hereditary cancer predisposition syndrome. A retrospective review of 4600 consecutive patients with primary uveal melanoma revealed eight patients with biopsy-proven F A M-M syndrome. The clinical profile of these patients was studied and their kindreds analyzed. In patients with F A M-M syndrome, the uveal melanoma occurred at a relatively young age (mean 40 years; range 10-52 years). The diagnosis of F A M-M syndrome preceded or followed the diagnosis of uveal melanoma by as much as 10 years. None of the patients had an associated nonmelanocytic malignancy. Three of the eight patients had a positive family history of melanoma (cutaneous melanoma (2) and uveal melanoma (1). The authors conclude that the occurrence of primary uveal melanoma in the setting of F A M-M syndrome does not follow a clear pattern of a hereditary cancer predisposition syndrome.
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PMID:Uveal melanoma and familial atypical mole and melanoma (FAM-M) syndrome. 749 57

Expression of CD44, particularly of certain splice variants, has been linked to tumor progression and metastasis formation in a number of different animal and human cancers. Because human cutaneous melanoma is among the most aggressive human cancers, we explored expression of CD44 isoforms (CD44v) in lesions of melanocytic tumor progression. In addition, by RT-PCR and FACS analysis we assessed CD44v RNA species and cell surface expression of CD44v in cultured melanocytes isolated from human foreskin and in a panel of 2 non-, 2 sporadically and 2 highly metastatic human melanoma cell lines. We observed that all melanocytic lesions examined showed strong uniform expression of standard CD44 (CD44s) epitopes. We did not detect CD44v6 expression in the melanocytic lesions. However, CD44 isoforms containing v5 or v10 were differentially expressed. V5 was expressed in 16%, 0%, 20%, 67% and 58% of common nevi, atypical nevi, early primary melanomas (< or = 1.5 mm), advanced primary melanomas (> 1.5 mm) and metastases, respectively, and hence was related to tumor progression. In contrast, CD44v10 was expressed in all common nevi, whereas part of the atypical nevi and most primary melanomas and metastases lacked v10. CD44v RNA patterns were closely similar in cultured melanocytes and all melanoma cell lines. Melanocytes expressed high levels of CD44s but no CD44v, whereas all melanoma cell lines expressed CD44v at the surface. Interestingly, expression of v5 was strongly increased in the highly metastatic cell lines. Our results suggest a role for CD44 variant domains, particularly v5 and v10, in human melanocytic tumor progression.
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PMID:Expression of CD44 splice variants in human cutaneous melanoma and melanoma cell lines is related to tumor progression and metastatic potential. 754 41

Between January 1956 and December 1990, 17 patients younger than 17 years with available pathological screens of de novo cutaneous melanoma, and with no other risk factors (xeroderma pigmentosum, giant congenital naevi, congenital melanoma or a proven family history of dysplastic naevus syndrome) were seen at the Gustave-Roussy Institute. The median age was 9 years and 9 months (range 2 years and 3 months-16 years and 9 months). The primary disease was located in the lower extremities in 10 cases, the trunk in five cases, and the upper extremities or head and neck in one case. The disease was localized for 10 patients at presentation (stage I), six had proven nodal metastasis (stage II) and one patient had nodal and breast metastases. The median thickness of the primary lesion was 2.89 mm (range 0.64-10). Five tumours were at level III on Clark's index, eight at level IV and four at level V. Six cases were classified as superficial spreading, two as unclassified radial growth, three nodular, three with Spitzoid cells, and three were unclassified. Two patients presented local recurrence with an initial unclassified melanoma, with a thickness greater than 2.5 mm. At a median follow-up time of 7 years, two patients had died from recurrent disease, and one patient had died from a second malignancy.
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PMID:Melanoma arising de novo in childhood: experience of the Gustave-Roussy Institute. 762 Mar 39

In a combined analysis of 2952 melanoma patients and 3618 controls from 8 case-control studies in white populations the risk of cutaneous melanoma was 2.24-fold higher (95% CI, 1.76-2.86) in subjects who reported at least one affected first-degree relative than in subjects who did not. There was no evidence for heterogeneity in the relative risk between the studies, which were from a wide range of latitudes and hence degrees of sun exposure. The effect of family history on melanoma risk was independent of age, naevus count, hair and eye colour, and freckling. There was no evidence for a relationship between family history and primary site of melanoma but there was some suggestion that the familial patients were more likely to have superficial spreading melanoma or lentigo maligna melanoma than acral lentiginous melanoma or nodular melanoma.
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PMID:Risk of cutaneous melanoma associated with a family history of the disease. The International Melanoma Analysis Group (IMAGE). 763 61

Combined multi-point linkage analysis in seven Dutch families with FAMMM syndrome confirmed the location of a melanoma susceptibility (MLM) gene in the 9p21 area. The occurrence of a shared high-risk haplotype in six of the families strongly suggests a founder effect in the Leiden region. No indication for locus heterogeneity was observed. Recently, the CDKN2 (p16) gene, an important regulator of the cell cycle, was isolated from the 9p21 region. A 19-bp germline deletion in the CDKN2 gene was detected in the high-risk haplotype, suggesting CDKN2 to be identical to MLM. Loss of heterozygosity studies in melanoma and pancreatic carcinoma from gene carriers strongly support the view that CDKN2 is a general tumour suppressor gene predisposing not only to melanoma but also to other malignancies. Interestingly, the occurrence of apparent clinical FAMMM cases with melanoma but without the high-risk deletion haplotype suggests the necessity of additional (naevus) genes to explain the complete FAMMM phenotype.
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PMID:CDKN2 explains part of the clinical phenotype in Dutch familial atypical multiple-mole melanoma (FAMMM) syndrome families. 764 May 18

Human cutaneous malignant melanoma progresses through a series of well defined clinical and histopathological stages. It has been assumed that the neoplastic progression of this disease advances from a common acquired nevus or dysplastic nevus through the primary radial growth phase (RGP), primary vertical growth phase (VGP), and finally to distant metastasis. However, it has never been directly shown that VGP is clonally derived from RGP. Furthermore, it has not been possible previously to conduct a detailed genetic analysis on pure tumor cells from archival material because the lesions are a heterogeneous mixture of normal and neoplastic cells, and the entire specimen must be excised and fixed for clinical diagnosis. This report describes a new approach designed to identify DNA copy number changes in tumor cells from a series of progressive primary stages of cutaneous melanoma archival biopsies. Under direct high-power visualization, cells are procured with a sterile needle from highly specific areas of the tissue section. DNA is extracted from microdissected cells (normal, RGP, and VGP), PCR amplified, fluorescently labeled, and examined by comparative genomic hybridization to determine DNA copy number changes. Data obtained from three representative cases suggest a clonal derivation of VGP cells from RGP. This approach could be useful in identifying the sequence of genetic changes in progressive cutaneous melanoma stages.
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PMID:Direct visualization of the clonal progression of primary cutaneous melanoma: application of tissue microdissection and comparative genomic hybridization. 766 61

A total of 452 women with cutaneous malignant melanoma and 930 control subjects aged 25-59 years participated in a population-based case-control study carried out in the San Francisco Bay Area between 1981 and 1986. Interviews were conducted in the homes of the women. Questions were asked about various phenotypic characteristics, including eye, hair, and complexion color, presence of freckles, and number of nevi, as well as medical history, history of exposure to sunlight, ability to tan, occupation, use of cigarettes and alcohol, and demographic factors. Histologic type of melanoma was considered in the analysis: 355 (79%) women were diagnosed with superficial spreading melanoma, 61 (13%) had nodular melanoma, 13 (3%) had lentigo maligna melanoma, and 23 (5%) had other melanomas that could not be further classified. For all cutaneous melanoma subjects combined, univariate results related to host factors showed that risk increased with the presence of nevi greater than 5 mm in diameter; light eyes, hair, and complexion; freckles; a history of skin cancer other than melanoma; a history of skin cancer in relatives; and maternal and paternal Northern or Central European ancestry. After adjustment for each other and for sun exposure factors, the phenotypic and host factors associated with all types of cutaneous malignant melanoma and superficial spreading melanoma were the presence of large nevi, light hair color, light complexion, and maternal Northern or Central European ancestry. Host factors associated with nodular melanoma after adjustment for other factors were the presence of large nevi, light hair color, ever being overweight by 20 pounds (9 kg) or more, and the presence of freckles.
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PMID:Cutaneous melanoma in women. II. Phenotypic characteristics and other host-related factors. 774 Nov 23


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