Mutation of GNAQ in a cytologically unusual choroidal melanoma in an 18-month-old child

JAMA Ophthalmology

Volumn 131, Issue 6, 2013, Pages 810-812

  Levasseur, Steve Daniel ^a   Paton, Katherine E ^a   Van Raamsdonk, Catherine D ^a   Heran, Manraj K S ^a   White, Valerie Ann ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

GNAQ PROTEIN; HMB 45 PROTEIN; MELAN A; PROTEIN; PROTEIN S 100; TUMOR MARKER; UNCLASSIFIED DRUG;

CANCER DIAGNOSIS; CASE REPORT; CHILD; CHOROID MELANOMA; CLINICAL FEATURE; ENUCLEATION; FEMALE; GENE SEQUENCE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LETTER; LEUKOKORIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DETACHMENT; SEQUENCE ANALYSIS; SOMATIC MUTATION;

CHOROID NEOPLASMS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GTP-BINDING PROTEIN ALPHA SUBUNITS; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; MAGNETIC RESONANCE IMAGING; MELANOMA; MUTATION; PHENOTYPE; TUMOR MARKERS, BIOLOGICAL;

EID: 84879055495     PISSN: 21686165     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaophthalmol.2013.2483     Document Type: Letter

References (5)

1. Singh AD, Shields CL, Shields JA, Sato T. Uveal melanoma in young patients. Arch Ophthalmol. 2000;118(7):918-923. (Pubitemid 30460629)
2. Rai A, Al-Jaradi M, Burnier M, Chakrabarti S. Congenital choroidal melanoma in an infant. Can J Ophthalmol. 2011;46(2):203-204.
3. Singh AD, Wang MX, Donoso LA, Shields CL, De Potter P, Shields JA. Genetic aspects of uveal melanoma: a brief review. Semin Oncol. 1996;23(6):768-772. (Pubitemid 26424706)
4. Van Raamsdonk CD, Griewank KG, Crosby MB, et al. Mutations in GNA11 in uveal melanoma. N Engl J Med. 2010;363(23):2191-2199.
5. Van Raamsdonk CD, Bezrookove V, Green G, et al. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature. 2009;457(7229):599- 602.