Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. X:X | DOI: 10.5507/bp.2024.018

Enhancing the utility of chromosome 6 and 8 testing in uveal melanoma biopsies

Veronika Matuskova1, Pavla Hornackova1, Marek Michalec1, Lenka Zlamalikova2, Kvetoslava Matulova2, Michal Uher3
1 Department of Ophthalmology, University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic
2 Department of Pathology, University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic
3 Masaryk Memorial Cancer Institute, Brno, Czech Republic

Background: The aim of this study was to evaluate the significance of testing the gain of chromosome 8 and the gain of chromosome 6 as prognostic markers in histopathological samples of enucleated eyes in with uveal melanoma.

Methods: This is a retrospective study of 54 enucleated eyes. The status of chromosomes 3, 8 and 6 was tested by CISH, and FISH was used in a few samples. A follow-up for the detection of metastases was conducted in all patients. The statistical significance of chromosomal abnormalities as a prognostic factor for the development of metastases was determined.

Results: The study group consists of 54 patients (average age 63 years), 28 men (51.9%) Monosomy 3 together with gain of chromosome 8 was found in 10 samples (18.5%). Both chromosomal abnormalities were detected in 6 (11%) patients. No chromosomal abnormality in 3 or 8 was detected in 21 (38.9%) patients. Abnormalities of chromosome 6 were present in 6 (11%) patients. Progression free survival after 5 years was 33.3% (95% CI 0.0; 83.3) in these patients.

Conclusions: Our findings indicate a correlation between progression-free survival and the presence of changes in chromosome 3 and e 8 in uveal melanomas. The results underline the necessity of testing for both chromosomal aberrations.

Keywords: uveal melanoma, chromosome 6, chromosome 8, CISH, FISH, progression free survival

Received: April 5, 2024; Revised: May 17, 2024; Accepted: May 17, 2024; Prepublished online: May 31, 2024 

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    References

    1. Chang AE, Karnell LH, Menck HR. The National Cancer Data Base report on cutaneous and noncutaneous melanoma: a summary of 84,836 cases from the past decade. The American College of Surgeons Commission on Cancer and the American Cancer Society. Cancer 1998; 83(8):1664-78. Go to original source...
    2. Weis E, Shah CP, Lajous M, Shields JA, Shields CL. The association between host susceptibility factors and uveal melanoma: a meta-analysis. Arch Ophthalmol 2006;124(1):54-60. Go to original source... Go to PubMed...
    3. Dogrusöz M, Bagger M, van Duinen SG, Kroes WG, Ruivenkamp CA, Böhringer S, Andersen KK, Luyten GP, Kiilgaard JF, Jager MJ. The Prognostic Value of AJCC Staging in Uveal Melanoma Is Enhanced by Adding Chromosome 3 and 8q Status. Invest Ophthalmol Vis Sci 2017;58(2):833-42. Go to original source... Go to PubMed...
    4. Singh AD, Turell ME, Topham AK. Uveal melanoma: trends in incidence, treatment, and survival. Ophthalmology 2011;118(9):1881-5. Go to original source... Go to PubMed...
    5. Kujala E, Mäkitie T, Kivelä T. Very long-term prognosis of patients with malignant uveal melanoma. Invest Ophthalmol Vis Sci 2003;44:4651-9. Go to original source... Go to PubMed...
    6. Lowe KL, Cole D, Kenefeck R, OKelly I, Lepore M, Jakobsen BK. Novel TCR-based biologics: mobilising T cells to warm "cold" tumours. Cancer Treat Rev 2019;77:35-43. Go to original source... Go to PubMed...
    7. Chen LN, Carvajal RD. Tebentafusp for the treatment of HLA-A*02:01-positive adult patients with unresectable or metastatic uveal melanoma. Expert Rev Anticancer Ther 2022;22(10):1017-27. Go to original source... Go to PubMed...
    8. Nathan P, Hassel JC, Rutkowski P, Baurain JF, Butler MO, Schlaak M, Sullivan RJ, Ochsenreither S, Dummer R, Kirkwood JM, Joshua AM, Sacco JJ, Shoushtari AN, Orloff M, Piulats JM, Milhem M, Salama AKS, Curti B, Demidov L, Gastaud L, Mauch C, Yushak M, Carvajal RD, Hamid O, Abdullah SE, Holland C, Goodall H, Piperno-Neumann S; IMCgp100-202 Investigators. Overall Survival Benefit with Tebentafusp in Metastatic Uveal Melanoma. N Engl J Med 202;385(13):1196-206. Go to original source... Go to PubMed...
    9. Shields CL, Dalvin LA, Vichitvejpaisal P, Mazloumi M, Ganguly A, Shields JA. Prognostication of uveal melanoma is simple and highly predictive using The Cancer Genome Atlas (TCGA) classification: A review. Indian J Ophthalmol 2019;67(12):1959-63. Go to original source... Go to PubMed...
    10. Shields CL, Kaliki S, Furuta M, Mashayekhi A, Shields JA. Clinical spectrum and life prognosis of patients with uveal melanoma based on age at presentation in 8033 cases. Retina 2012;32:1363-72. Go to original source... Go to PubMed...
    11. AJCC Ophthalmic Oncology Task Force. International validation for the American Joint Committee on Cancer's 7th edition classification of uveal melanoma. JAMA Ophthalmol 2015;133:376-83. Go to original source...
    12. Kivela T, Simpson ER, Grossniklaus HE, Jager MJ, Singh AD, Caminal JM. AJCC Cancer Staging Manual. 8th ed. Switzerland: Springer International Publishing; 2017. Uveal Melanoma; 805-17.
    13. Shields CL, Kaliki S, Furuta M, Fulco E, Alarcon C, Shields JA. American Joint Committee on Cancer classification of posterior uveal melanoma (tumor size category) predicts prognosis in 7731 patients. Ophthalmology 2013;120:2066-71. Go to original source... Go to PubMed...
    14. Shields CL, Kaliki S, Furuta M, Fulco E, Alarcon C, Shields JA. American Joint Committee on Cancer classification of uveal melanoma (anatomic stage) predicts prognosis in 7,731 patients: the 2013 Zimmerman Lecture. Ophthalmology 2015;122(6):1180-6. Go to original source... Go to PubMed...
    15. Martķnez-Reyes I, Chandel NS. Cancer metabolism: looking forward. Nat Rev Cancer 2021;21(10):669-80. Go to original source... Go to PubMed...
    16. Prescher G, Bornfeld N, Becher R. Nonrandom chromosomal abnormalities in primary uveal melanoma. J Natl Cancer Inst 1990;82(22):1765-9. Go to original source... Go to PubMed...
    17. Sisley K, Rennie IG, Parsons MA, Jacques R, Hammond DW, Bell SM, Potter AM, Rees RC. Abnormalities of chromosomes 3 and 8 in posterior uveal melanoma correlate with prognosis. Genes Chromosomes Cancer 1997;19(1):22-8. Go to original source...
    18. Virgili G, Gatta G, Ciccolallo L, Capocaccia R, Biggeri A, Crocetti E, Lutz JM, Paci E; EUROCARE Working Group. Incidence of uveal melanoma in Europe. Ophthalmology 2007; 114(12):2309-15. Go to original source... Go to PubMed...
    19. Shields CL, Say EAT, Hasanreisoglu M, Saktanasate J, Lawson BM, Landy JE, Badami AU, Sivalingam MD, Hauschild AJ, House RJ, Daitch ZE, Mashayekhi A, Shields JA, Ganguly A. Personalized prognosis of uveal melanoma based on cytogenetic profile in 1059 patients over an 8-year period: The 2017 Harry S. Gradle Lecture. Ophthalmology 2017;124:1523-31. Go to original source... Go to PubMed...
    20. Shields CL, Say EAT, Hasanreisoglu M, Saktanasate J, Lawson BM, Landy JE, Badami AU, Sivalingam MD, Hauschild AJ, House RJ, Daitch ZE, Mashayekhi A, Shields JA, Ganguly A. Cytogenetic abnormalities in Uveal melanoma based on tumor features and size in 1059 patients: the 2016 W. Richard Green Lecture. Ophthalmology 2017;124(5):609-18. Go to original source... Go to PubMed...
    21. Eleuteri A, Taktak AFG, Coupland S.E., Heimann H., Kalirai H., Damato B. Prognostication of metastatic death in uveal melanoma patients: A markov multi-state model. Comput Biol Med 2018;102:151-6. Go to original source... Go to PubMed...
    22. Damato B, Duke C, Coupland SE, Hiscott P, Smith PA, Campbell I, Douglas A, Howard P. Cytogenetics of uveal melanoma: a 7-year clinical experience. Ophthalmology. 2007;114(10):1925-31. Go to original source... Go to PubMed...
    23. Vaquero-Garcia J, Lalonde E, Ewens KG, Ebrahimzadeh J, Richard-Yutz J, Shields CL, Barrera A, Green CJ, Barashal Y, Ganguly A. Primeum: A model for predicting risk of metastasis in uveal melanoma. Investig Ophthalmol Vis Sci 2017;58:4096-105. Go to original source... Go to PubMed...
    24. Cancer Genome Atlas Research Network, Weinstein JN, Collisson EA, Mills GB, Shaw KR, Ozenberger BA, Ellrott K, Shmulevich I, Sander C, Stuart JM. The Cancer Genome Atlas Pan-Cancer analysis project. Nat Genet 2013;45(10):1113-20. Go to original source... Go to PubMed...
    25. Shields CL, Dalvin LA, Vichitvejpaisal P, Mazloumi M, Ganguly A, Shields JA. Prognostication of uveal melanoma is simple and highly predictive using The Cancer Genome Atlas (TCGA) classification: A review. Indian J Ophthalmol 2019;67:1959-63. Go to original source... Go to PubMed...
    26. Tomczak K, Czerwińska P, Wiznerowicz M. The cancer genome atlas (TCGA): An immeasurable source of knowledge. Contemp Oncol 2015;19:A68-77. Go to original source... Go to PubMed...
    27. Jager MJ, Brouwer NJ, Esmaeli B. The cancer genome atlas project: An integrated molecular view of uveal melanoma. Ophthalmology 2018;125:1139-42. Go to original source... Go to PubMed...
    28. Vichitvejpaisal P, Dalvin LA, Mazloumi M, Ewens KG, Ganguly A, Shields CL. Genetic Analysis of Uveal Melanoma in 658 Patients Using the Cancer Genome Atlas Classification of Uveal Melanoma as A, B, C, and D. Ophthalmology 2019;126(10):1445-53. doi: 10.1016/j.ophtha.2019.04.027 Go to original source... Go to PubMed...
    29. Mazloumi M, Vichitvejpaisal P, Dalvin LA, Yaghy A, Ewens KG, Ganguly A, Shields CL. Accuracy of The Cancer Genome Atlas Classification vs American Joint Committee on Cancer Classification for Prediction of Metastasis in Patients With Uveal Melanoma. JAMA Ophthalmol 2020;138(3):260-7. Go to original source... Go to PubMed...
    30. Onken MD, Worley LA, Char DH. Collaborative Ocular Oncology Group report number 1: prospective validation of a multi-gene prognostic assay in uveal melanoma. Ophthalmology 2012;119(8):1596-603.
    31. Robertson AG, Shih J, Yau C, Gibb EA, Oba J, Mungall KL, Hess JM, Uzunangelov V, Walter V, Danilova L, Lichtenberg TM, Kucherlapati M, Kimes PK, Tang M, Penson A, Babur O, Akbani R, Bristow CA, Hoadley KA, Iype L, Chang MT; TCGA Research Network; Cherniack AD, Benz C, Mills GB, Verhaak RGW, Griewank KG, Felau I, Zenklusen JC, Gershenwald JE, Schoenfield L, Lazar AJ, Abdel-Rahman MH, Roman-Roman S, Stern MH, Cebulla CM, Williams MD, Jager MJ, Coupland SE, Esmaeli B, Kandoth C, Woodman SE. Integrative Analysis Identifies Four Molecular and Clinical Subsets in Uveal Melanoma. Cancer Cell 2017;32(2):204-220.e15. doi: 10.1016/j.ccell.2017.07.003 Erratum in: Cancer Cell 2018;33(1):151. Go to original source... Go to PubMed...

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