Loss of Heterozygosity at Polymorphic Chromosomal Loci in Patients with Malignant Melanoma

Orita, Masato; Murakami, Yoshinori; Ishihara, Kazuyuki; Sekiya, Takao

doi:10.1038/jid.1989.82

Journal of Investigative Dermatology

1989

DOI: 10.1038/jid.1989.82

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Loss of Heterozygosity at Polymorphic Chromosomal Loci in Patients with Malignant Melanoma

Masato Orita

Yoshinori Murakami

Kazuyuki Ishihara

et al.

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Cited by 8 publications

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References 35 publications

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“…At the level of the gene, abnormalities of tumour DNA may be classed as amplification or novel allelic rearrangement, irrespective of constitutional genotype, and allelic loss (loss of heterozygosity, LOH) in heterozygous (informative) patients. Orita et al (1989) andNordenskjold et al (1990) suggested that genetic abnormalities were scattered throughout the genome in sporadic melanomas. By contrast, Millikin et al (1991) found LOH at a frequency of up to 60% on chromosome arm 6q.…”

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confidence: 98%

Loss of heterozygosity in malignant melanoma at loci on chromosomes 11 and 17 implicated in the pathogenesis of other cancers

Tomlinson

Gammack

Stickland

et al. 1993

Genes Chromosomes & Cancer

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Forty-six cases of sporadic melanoma have been investigated for loss of heterozygosity at 4 loci: D11S29 (11q23), YNZ22 (17p13.3), TP53 (17p13.1); and NM23 (17q22). Each of the loci is thought to be important in the pathogenesis of other tumours. Mutations were found infrequently at the YNZ22, NM23, and TP53 loci. At D11S29, however, the frequency of mutation in the melanoma samples was high (67%) and mutations at this locus were associated with younger age at presentation. This region of chromosome 11 is also commonly mutated in breast cancers and haematological malignancies. Genetic aberrations at D11S29 may therefore represent nonspecific mutations found in several malignancies or part of a pathway common to the malignant phenotype.

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mentioning

confidence: 98%

Loss of heterozygosity in malignant melanoma at loci on chromosomes 11 and 17 implicated in the pathogenesis of other cancers

Tomlinson

Gammack

Stickland

et al. 1993

Genes Chromosomes & Cancer

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Human malignant melanoma. A genetic disease?

Kraehn

Schartl

Peter³

1995

Cancer

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Background. Human hereditary malignant melanoma, comprising 5% of all cases of malignant melanoma, occurs in association with other malignancies, predominantly in families with dysplastic nevus syndrome. Additionally, higher incidences of malignant melanoma have been reported in individuals with genetic disorders such as ataxia telangiectasia and xeroderma pigmentosum. The results and observations as reported in the literature on the involvement of oncogenes and chromosomal aberrations in the development of malignant melanoma are reviewed and compared with the authors' own experimental and clinical experience. Results. Numerous chromosomal regions, as on chromosomes 1 and 9, were altered. The long arm of chromosome 6 was affected in 60% of melanomas. Introduction of a normal copy of chromosome 6 resulted in loss of tumorigenicity in vitro. True melanoma genes were evident in two animal models: the Sinclair swine and the teleost fish Xiphophorus. In the Xiphophorus system, the crossing‐conditioned elimination of a tumor suppressor gene led to the uncontrolled activity of a dominantly acting oncogene in certain hybrids. The causative oncogene, Xmrk, encodes a receptor tyrosine kinase closely related to human epidermal growth factor receptor (EGFR). Among the numerous studied human oncogenes, mutations in the extensively investigated ras family are the result rather than the cause of malignant transformation. High expression of nuclear oncogenes simply may be a common feature of rapidly dividing cells. The receptor tyrosine kinase EGFR may be involved in late stage melanoma; the human exon with homology to Xmrk shows elevated transcription levels in 80% of human melanoma metastases. Deletions of the tumor suppressor gene MTS 1 may be important for melanoma formation, whereas deletions of p53 appear to be of minor relevance. Conclusion. Scientific progress in treating and diagnosing malignant melanoma will largely depend on experimental approaches to define relevant genetic changes by functional analysis rather than descriptive phenomenology and correlative observations. Cancer 1995;75:1228‐37.

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Allelic imbalance in the diagnosis of benign, atypical and malignant Spitz tumours

Dijk

Rombout

Mooi

et al. 2002

The Journal of Pathology

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To test the diagnostic usefulness of allelic imbalance (AI) analysis based on routinely paraffin-embedded tissue, a series of 55 benign Spitz naevi, Spitz tumours with uncertain malignant potential, and malignant Spitzoid melanomas was investigated. Laser microdissection was used to ensure representative sampling of lesional cells and to investigate AI in separate tumour areas of four melanomas. AI was found in 2/12 (17%) typical Spitz naevi, 3/9 (33%) atypical Spitz tumours, 12/17 (65%) atypical Spitz tumours suspicious for melanoma and 15/17 (88%) Spitzoid melanomas. Additional immunohistochemical staining for Ki-67 using the MIB-1 antibody revealed positive deeply situated lesional cells in 0/6 (0%) Spitz naevi, 1/8 (13%) atypical Spitz tumours, 5/14 (35%) atypical Spitz tumours suspicious for melanoma, and 7/14 (50%) Spitzoid melanomas, respectively. Two of the melanomas examined for AI in separate tumour areas showed intratumoural genetic heterogeneity. In view of the finding of AI and deeply situated Ki-67 positive cells not only in melanomas but also in Spitz tumours with uncertain malignant potential, these approaches appear to have no direct diagnostic applicability for the distinction between benign and malignant Spitz tumours. Further molecular studies will be required to determine whether Spitz tumours and Spitzoid melanomas are unrelated entities, or whether there is a true spectrum of tumour progression.

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Loss of Heterozygosity at Polymorphic Chromosomal Loci in Patients with Malignant Melanoma

Cited by 8 publications

References 35 publications

Loss of heterozygosity in malignant melanoma at loci on chromosomes 11 and 17 implicated in the pathogenesis of other cancers

Loss of heterozygosity in malignant melanoma at loci on chromosomes 11 and 17 implicated in the pathogenesis of other cancers

Human malignant melanoma. A genetic disease?

Allelic imbalance in the diagnosis of benign, atypical and malignant Spitz tumours

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