ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2011
Frequency, molecular pathology and potential clinical significance of partial chromosome 3 aberrations in uveal melanoma.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Pooled it
- Genetic landscape of uveal melanoma in Southeast Asia: high 1q gains and unique patterns of metastasis risk.Eye and vision (London, England) · 2025Article
- Microphthalmia-Associated Transcription Factor: A Differentiation Marker in Uveal Melanoma.International journal of molecular sciences · 2023Article
- PPAR-Responsive Elements Enriched with Alu Repeats May Contribute to Distinctive PPARγ-DNMT1 Interactions in the Genome.Cancers · 2021Article
- Association of Partial Chromosome 3 Deletion in Uveal Melanomas With Metastasis-Free Survival.JAMA ophthalmology · 2020Article
- Melanoma subtypes: genomic profiles, prognostic molecular markers and therapeutic possibilities.The Journal of pathology · 2019Review
- CANT1 lncRNA Triggers Efficient Therapeutic Efficacy by Correcting Aberrant lncing Cascade in Malignant Uveal Melanoma.Molecular therapy : the journal of the American Society of Gene Therapy · 2017Article
- Review
- The genetics of uveal melanoma: current insights.The application of clinical genetics · 2016Review
- Lack of BAP1 protein expression in uveal melanoma is associated with increased metastatic risk and has utility in routine prognostic testing.British journal of cancer · 2014Article
- The occurrence and proposed significance of Schnabel cavernous degeneration in uveal melanoma.JAMA ophthalmology · 2014Article
- Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3.Nature genetics · 2013Article
- Monosomy 3 status of uveal melanoma metastases is associated with rapidly progressive tumors and short survival.Experimental eye research · 2012Article
- Chromosome 3 status in uveal melanoma: a comparison of fluorescence in situ hybridization and single-nucleotide polymorphism array.Investigative ophthalmology & visual science · 2012Article
- Prognostic significance of chromosome 3 alterations determined by microsatellite analysis in uveal melanoma: a long-term follow-up study.British journal of cancer · 2012Article
- Molecular genetic testing of uveal melanoma from routinely processed and stained cytology specimens.Experimental eye research · 2011Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
The clinical significance of partial chromosome 3 alteration in uveal melanoma is still not clear. Also, the reported frequencies vary considerably in the published literature from 0 to 48%. The aims of the following study were to identify the frequency, molecular pathology and potential clinical significance of partial chromosome 3 alteration in uveal melanoma. We studied 47 uveal melanomas with an average follow-up of 36 months. Of these, 14 had confirmed metastasis. Allelic imbalance/loss of heterozygosity was studied using microsatellite markers on chromosome 3 enriched in markers located in the previously reported smallest regions of deletion overlap. Chromosomal alterations were assessed by conventional cytogenetics or comparative genomic hybridization (CGH) in a subset of patients. Utilizing genotyping, partial chromosome 3 alteration was detected in 14/47 tumors (30%). In the 23 tumors with available cytogenetic/CGH, partial chromosome 3 alteration was detected in 8/23 (38%) and was caused by both gains (4/8) and losses (4/8) of chromosome 3 with high frequency of complex chromosome 3 aberrations detected by cytogenetics. Out of the 14 tumors with confirmed metastasis, only 1 showed partial chromosome 3 alteration and the remaining showed monosomy 3. By limiting the aggressive disease marker to monosomy 3, genotyping showed 93% sensitivity and 67% specificity for detection of aggressive uveal melanoma. In conclusion, partial chromosome 3 alterations are common in uveal melanoma and mostly caused by complex cytogenetic changes leading to partial gains and/or partial losses of chromosome 3. Partial chromosome 3 alteration is not likely to be associated with highly aggressive uveal melanoma that metastasizes within the first 3 years after treatment. Microsatellite-based genotyping of chromosome 3 is highly sensitive for detection of aggressive uveal melanoma.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.