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uveal melanoma
Monday 19 May 2008
choroid melanoma
Definition: Uveal melanoma (UM) is the most common primary intraocular tumor in the Western world. Cytogenetically, this tumor is characterized by typical chromosomal aberrations such as loss of 1p, 3, and 6q, and gain of 6p and 8q.
Images
Uveal melanoma
- https://twitter.com/JMGardnerMD/status/707425855669198849
- https://twitter.com/pathologistmag/status/725784347828228096
Uveal melanoma at iris root, extending into and blocking anterior chamber angle.
Molecular biology
Uveal melanoma is frequently GNAQ mutated.
CGH (18295662)
losses
- 1p loss (26.1%)
- monosomy 3 (Chr.3 loss) (56%),
- 6q loss (21.7%)
gains
- 6p gain (67%)
- 8q gain (58.7%-78%)
- 18q gain
- 21q gain
Nota bene: The most common genetic changes in monosomy 3 tumours are gain of 8q11.21-q24.3, 6p25.1-p21.2, 21q21.2-q21.3 and 21q22.13-q22.3 and loss of 1p36.33-p34.3, 1p31.1-p21.2, 6q16.2-q25.3 and 8p23.3-p11.23. In contrast, disomy 3 tumours show recurrent gains of only 6p25.3-p22.3 and 8q23.2-q24.3. (16251874)
References
Mensink HW, Kiliç E, Vaarwater J, Douben H, Paridaens D, de Klein A. Molecular cytogenetic analysis of archival uveal melanoma with known clinical outcome. Cancer Genet Cytogenet. 2008 Mar;181(2):108-11. PMID: 18295662
Microarray comparative genomic hybridisation analysis of intraocular uveal melanomas identifies distinctive imbalances associated with loss of chromosome 3. Hughes S, Damato BE, Giddings I, Hiscott PS, Humphreys J, Houlston RS. Br J Cancer. 2005 Nov 14;93(10):1191-6. PMID: 16251874
