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Gain of Chromosome 8q

MedGen UID:
273368
•Concept ID:
C1517423
•
Cell or Molecular Dysfunction

Definition

A chromosomal abnormality that refers to the gain of genetic material in the long arm of chromosome 8. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGain of Chromosome 8q

Professional guidelines

PubMed

Ocular treatment of choroidal melanoma in relation to the prevention of metastatic death - A personal view.
Damato B
Prog Retin Eye Res 2018 Sep;66:187-199. Epub 2018 Mar 20 doi: 10.1016/j.preteyeres.2018.03.004. PMID: 29571968
Uveal Melanoma Treatment and Prognostication.
Dogrusöz M, Jager MJ, Damato B
Asia Pac J Ophthalmol (Phila) 2017 Mar-Apr;6(2):186-196. doi: 10.22608/APO.201734. PMID: 28399342
Genetic findings in treatment-naïve and proton-beam-radiated iris melanomas.
Krishna Y, Kalirai H, Thornton S, Damato BE, Heimann H, Coupland SE
Br J Ophthalmol 2016 Jul;100(7):1012-1016. Epub 2016 Apr 20 doi: 10.1136/bjophthalmol-2015-308301. PMID: 27098748

Recent clinical studies

Etiology

Gain of chromosome 8q and high expression of EZH2 may predict poor prognosis in Chinese patients with uveal melanoma.
Zhang L, Pan H, Yao Y, Gu X, Ge T, Cui J, Chai P, Xu X, Jia R, Zhuang A, Fan X
Asia Pac J Ophthalmol (Phila) 2024 Sep-Oct;13(5):100108. Epub 2024 Oct 10 doi: 10.1016/j.apjo.2024.100108. PMID: 39395714
Improved Staging of Ciliary Body and Choroidal Melanomas Based on Estimation of Tumor Volume and Competing Risk Analyses.
Stålhammar G, Coupland SE, Ewens KG, Ganguly A, Heimann H, Shields CL, Damato B
Ophthalmology 2024 Apr;131(4):478-491. Epub 2023 Oct 29 doi: 10.1016/j.ophtha.2023.10.026. PMID: 38071620
Genetic prognostication in uveal melanoma.
Dogrusöz M, Jager MJ
Acta Ophthalmol 2018 Jun;96(4):331-347. Epub 2017 Nov 4 doi: 10.1111/aos.13580. PMID: 29105334
Prognostic impact of chromosomal aberrations and GNAQ, GNA11 and BAP1 mutations in uveal melanoma.
Staby KM, Gravdal K, Mørk SJ, Heegaard S, Vintermyr OK, Krohn J
Acta Ophthalmol 2018 Feb;96(1):31-38. Epub 2017 Apr 26 doi: 10.1111/aos.13452. PMID: 28444874
Gain of chromosome 8q is associated with metastases and poor survival of patients with clear cell renal cell carcinoma.
Klatte T, Kroeger N, Rampersaud EN, Birkhäuser FD, Logan JE, Sonn G, Riss J, Rao PN, Kabbinavar FF, Belldegrun AS, Pantuck AJ
Cancer 2012 Dec 1;118(23):5777-82. Epub 2012 May 17 doi: 10.1002/cncr.27607. PMID: 22605478

Diagnosis

Aqueous Humor Biomarkers Identify Three Prognostic Groups in Uveal Melanoma.
Wierenga APA, Cao J, Mouthaan H, van Weeghel C, Verdijk RM, van Duinen SG, Kroes WGM, Dogrusöz M, Marinkovic M, van der Burg SSH, Luyten GPM, Jager MJ
Invest Ophthalmol Vis Sci 2019 Nov 1;60(14):4740-4747. doi: 10.1167/iovs.19-28309. PMID: 31731294
Genetic prognostication in uveal melanoma.
Dogrusöz M, Jager MJ
Acta Ophthalmol 2018 Jun;96(4):331-347. Epub 2017 Nov 4 doi: 10.1111/aos.13580. PMID: 29105334
Digital PCR validates 8q dosage as prognostic tool in uveal melanoma.
Versluis M, de Lange MJ, van Pelt SI, Ruivenkamp CA, Kroes WG, Cao J, Jager MJ, Luyten GP, van der Velden PA
PLoS One 2015;10(3):e0116371. Epub 2015 Mar 12 doi: 10.1371/journal.pone.0116371. PMID: 25764247Free PMC Article
The prognostic value of extraocular extension in relation to monosomy 3 and gain of chromosome 8q in uveal melanoma.
van Beek JG, Koopmans AE, Vaarwater J, de Rooi JJ, Paridaens D, Naus NC, de Klein A, Verdijk RM, Kiliç E
Invest Ophthalmol Vis Sci 2014 Mar 4;55(3):1284-91. doi: 10.1167/iovs.13-13670. PMID: 24508790
DDEF1 is located in an amplified region of chromosome 8q and is overexpressed in uveal melanoma.
Ehlers JP, Worley L, Onken MD, Harbour JW
Clin Cancer Res 2005 May 15;11(10):3609-13. doi: 10.1158/1078-0432.CCR-04-1941. PMID: 15897555

Therapy

Genetic prognostication in uveal melanoma.
Dogrusöz M, Jager MJ
Acta Ophthalmol 2018 Jun;96(4):331-347. Epub 2017 Nov 4 doi: 10.1111/aos.13580. PMID: 29105334

Prognosis

Gain of chromosome 8q and high expression of EZH2 may predict poor prognosis in Chinese patients with uveal melanoma.
Zhang L, Pan H, Yao Y, Gu X, Ge T, Cui J, Chai P, Xu X, Jia R, Zhuang A, Fan X
Asia Pac J Ophthalmol (Phila) 2024 Sep-Oct;13(5):100108. Epub 2024 Oct 10 doi: 10.1016/j.apjo.2024.100108. PMID: 39395714
Improved Staging of Ciliary Body and Choroidal Melanomas Based on Estimation of Tumor Volume and Competing Risk Analyses.
Stålhammar G, Coupland SE, Ewens KG, Ganguly A, Heimann H, Shields CL, Damato B
Ophthalmology 2024 Apr;131(4):478-491. Epub 2023 Oct 29 doi: 10.1016/j.ophtha.2023.10.026. PMID: 38071620
PRAME Expression: A Target for Cancer Immunotherapy and a Prognostic Factor in Uveal Melanoma.
Gelmi MC, Gezgin G, van der Velden PA, Luyten GPM, Luk SJ, Heemskerk MHM, Jager MJ
Invest Ophthalmol Vis Sci 2023 Dec 1;64(15):36. doi: 10.1167/iovs.64.15.36. PMID: 38149971Free PMC Article
Genetic prognostication in uveal melanoma.
Dogrusöz M, Jager MJ
Acta Ophthalmol 2018 Jun;96(4):331-347. Epub 2017 Nov 4 doi: 10.1111/aos.13580. PMID: 29105334
Prognostic impact of chromosomal aberrations and GNAQ, GNA11 and BAP1 mutations in uveal melanoma.
Staby KM, Gravdal K, Mørk SJ, Heegaard S, Vintermyr OK, Krohn J
Acta Ophthalmol 2018 Feb;96(1):31-38. Epub 2017 Apr 26 doi: 10.1111/aos.13452. PMID: 28444874

Clinical prediction guides

Gain of chromosome 8q and high expression of EZH2 may predict poor prognosis in Chinese patients with uveal melanoma.
Zhang L, Pan H, Yao Y, Gu X, Ge T, Cui J, Chai P, Xu X, Jia R, Zhuang A, Fan X
Asia Pac J Ophthalmol (Phila) 2024 Sep-Oct;13(5):100108. Epub 2024 Oct 10 doi: 10.1016/j.apjo.2024.100108. PMID: 39395714
Lumican and versican protein expression are associated with colorectal adenoma-to-carcinoma progression.
de Wit M, Carvalho B, Delis-van Diemen PM, van Alphen C, Beliën JAM, Meijer GA, Fijneman RJA
PLoS One 2017;12(5):e0174768. Epub 2017 May 8 doi: 10.1371/journal.pone.0174768. PMID: 28481899Free PMC Article
The Prognostic Value of AJCC Staging in Uveal Melanoma Is Enhanced by Adding Chromosome 3 and 8q Status.
Dogrusöz M, Bagger M, van Duinen SG, Kroes WG, Ruivenkamp CA, Böhringer S, Andersen KK, Luyten GP, Kiilgaard JF, Jager MJ
Invest Ophthalmol Vis Sci 2017 Feb 1;58(2):833-842. doi: 10.1167/iovs.16-20212. PMID: 28159971
Digital PCR validates 8q dosage as prognostic tool in uveal melanoma.
Versluis M, de Lange MJ, van Pelt SI, Ruivenkamp CA, Kroes WG, Cao J, Jager MJ, Luyten GP, van der Velden PA
PLoS One 2015;10(3):e0116371. Epub 2015 Mar 12 doi: 10.1371/journal.pone.0116371. PMID: 25764247Free PMC Article
The prognostic value of extraocular extension in relation to monosomy 3 and gain of chromosome 8q in uveal melanoma.
van Beek JG, Koopmans AE, Vaarwater J, de Rooi JJ, Paridaens D, Naus NC, de Klein A, Verdijk RM, Kiliç E
Invest Ophthalmol Vis Sci 2014 Mar 4;55(3):1284-91. doi: 10.1167/iovs.13-13670. PMID: 24508790

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