Salomão Diva R, Ida Cristiane M, Greipp Patricia T, Carney J Aidan
Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.
Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Ocul Oncol Pathol. 2020 Oct;6(5):311-317. doi: 10.1159/000506205. Epub 2020 Apr 21.
A 74-year-old woman with Carney complex (CNC) and complaints of poor vision was found, on ophthalmic examination, to have a pigmented tumor involving the peripheral choroid and ciliary body in her right eye. The eye was enucleated and showed a ciliochoroidal melanoma with marked pleomorphism. The tumor did not recur or metastasize after almost 10 years of follow-up, and the patient died of unrelated causes. Molecular studies revealed a complex genome with multiple whole-chromosome losses including monosomy of chromosomes 1, 2 (including loss of at 2p16), 14, 17 (including loss of a copy of at 17q24.2), 18, 19, 21, 22, and X. No monosomy 3 was observed. This is only the second case of uveal melanoma in a patient with CNC, raising the possibility that this might represent a rare component of this syndrome.
一名74岁患有卡尼综合征（CNC）且视力不佳的女性，眼科检查发现其右眼有一个累及周边脉络膜和睫状体的色素性肿瘤。该眼被摘除，病理显示为具有明显多形性的睫状体脉络膜黑色素瘤。经过近10年的随访，肿瘤未复发或转移，患者死于其他无关原因。分子研究显示其基因组复杂，存在多个全染色体缺失，包括1号、2号（包括2p16缺失）、14号、17号（包括17q24.2一个拷贝缺失）、18号、19号、21号、22号和X染色体单体性。未观察到3号染色体单体性。这是CNC患者中第二例葡萄膜黑色素瘤病例，提示这可能是该综合征的一种罕见表现。
