Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P04637 (p53)
 77,613 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The biological significance of melanocytic lesions depends on its association with melanomas. Some melanocytic lesions are considered as precursors of melanoma while others may share histological similarities with malignant lesions. Melanomas exhibit clinical, epidemiological and histological heterogeneity. Molecular and cytogenetic studies may supply additional information to supplement the histopathological evaluation. Several genes have been linked to melanomas: CMM1 on chromosome 1p36 and CMM2 on 9p21, and other chromosomal regions where tumor suppressor genes are located as p16 (9p21) and p53 (17p13). We analyzed different melanocytic lesions to determine LOH at 9p21 and 17p13 and to assess clonality by the HUMARA technique. All the malignant melanomas were monoclonal and all the benignant lesions we analyzed were policlonal in our series including deep penetrating nevi and Spitz Nevi. LOH at 9p21 was determined in 60% melanomas, 50% Spitz and 0% intradermal nevi. In conclusion, genotypic changes may supplement the phenotypic or morphological evaluation of melanocytic lesions.
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PMID:[Genetic alterations in the differential diagnosis of melanocytic diseases]. 1138 55

Malignant blue nevus is a rare melanocytic tumor that is described by some authors as a variant of malignant melanoma, whereas others regard it as a distinct entity. To our knowledge no molecular studies of this tumor have been performed, although the molecular pathogenesis of conventional melanomas has been extensively described. We present a case of malignant blue nevus that developed in a 15-cm congenital blue nevus on the back of a 41-year-old man. Subsequent regional lymph node and lung metastases developed within 1 and 29 months, respectively. We performed a molecular analysis for loss of heterozygosity on microdissected samples from the spectrum of benign to malignant blue nevus, using a panel of eight genes (MTS1, MXI1, CMM1, p53, NF1, L-myc hOGG1, and MCC), many of which are commonly associated with conventional melanomas. No loss of heterozygosity was detected, despite informativeness in seven genes. We suggest that malignant blue nevus may represent a distinct entity with a different molecular pathway to tumorigenesis than that of conventional melanomas.
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PMID:Malignant blue nevus: a case report and molecular analysis. 1254 95