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越南亚裔脉络膜黑色素瘤的临床和细胞遗传学特征

Clinical and cytogenetic characteristics of choroidal melanoma in Vietnamese Asians.

作者信息

McCannel Tara A, Wu Melinda Y, Burgess Barry L

机构信息

Department of Ophthalmology and Jules Stein Eye Institute, University of California, Los Angeles, Los Angeles, CA 90095, USA.

出版信息

Mol Vis. 2011 Jan 21;17:231-6.

PMID:21270969
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3025820/
Abstract

PURPOSE

To report the clinical and cytogenetic characteristics of choroidal melanoma in Vietnamese Asians.

METHODS

In three Vietnamese Asians with choroidal melanoma, transscleral fine needle aspiration biopsy (FNAB) was performed immediately before iodine-125 brachytherapy. Biopsy was examined for cytopathology, fluorescence in situ hybridization (FISH) for the centromere of chromosome 3, and analyzed by 250K whole genome Mapping Array and U133 plus 2.0 Expression Array.

RESULTS

Three Vietnamese Asian men (50, 59, and 30 years of age) with clinical diagnosis of choroidal melanoma and no evidence of metastasis had FNAB immediately before Iodine-125 brachytherapy. Cytopathology showed heavily pigmented cells suggestive of or consistent with melanoma. Mapping Array and Expression Array revealed cytogenetic aberrations and gene expression profiles characteristic of choroidal melanoma. One patient (Case 2) with chromosome 3 loss and chromosome 8q gain developed biopsy-proven liver metastasis three years after brachytherapy. One patient (Case 1) with chromosome 6p, 9q and 17q gain and a second patient (Case 3) with 6p, 8q and 9q gains and losses in 6q and 8p have had no evidence of metastasis three years after brachytherapy.

CONCLUSIONS

In this series of Vietnamese Asians with heavily pigmented choroidal melanoma, the clinical characteristics, cytogenetic aberrations and gene expression profiles were similar to characteristics in other ethnic/racial groups and the cytogenetic aberration of chromosome 3 loss was associated with the development of liver metastasis.

摘要

目的

报告越南亚裔脉络膜黑色素瘤的临床和细胞遗传学特征。

方法

对三名患有脉络膜黑色素瘤的越南亚裔患者,在进行碘-125近距离放射治疗前立即进行经巩膜细针穿刺活检(FNAB)。对活检组织进行细胞病理学检查、针对3号染色体着丝粒的荧光原位杂交(FISH),并通过250K全基因组图谱阵列和U133 plus 2.0表达阵列进行分析。

结果

三名临床诊断为脉络膜黑色素瘤且无转移证据的越南亚裔男性(年龄分别为50岁、59岁和30岁)在碘-125近距离放射治疗前立即接受了FNAB。细胞病理学显示色素沉着严重的细胞,提示或符合黑色素瘤。图谱阵列和表达阵列揭示了脉络膜黑色素瘤的细胞遗传学异常和基因表达谱。一名3号染色体缺失和8号染色体长臂增加的患者(病例2)在近距离放射治疗三年后出现经活检证实的肝转移。一名6号染色体短臂、9号染色体长臂和17号染色体长臂增加的患者(病例1)以及另一名6号染色体短臂、8号染色体长臂和9号染色体增加且6号染色体短臂和8号染色体短臂有缺失的患者(病例3)在近距离放射治疗三年后均无转移证据。

结论

在这组色素沉着严重的越南亚裔脉络膜黑色素瘤患者中,临床特征、细胞遗传学异常和基因表达谱与其他种族/民族群体的特征相似,3号染色体缺失的细胞遗传学异常与肝转移的发生有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0925/3025820/8f520525c165/mv-v17-231-f5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0925/3025820/7749fdea9f93/mv-v17-231-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0925/3025820/15152307a7c1/mv-v17-231-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0925/3025820/568bac4fadaf/mv-v17-231-f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0925/3025820/7acb22df1b8f/mv-v17-231-f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0925/3025820/8f520525c165/mv-v17-231-f5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0925/3025820/7749fdea9f93/mv-v17-231-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0925/3025820/15152307a7c1/mv-v17-231-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0925/3025820/568bac4fadaf/mv-v17-231-f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0925/3025820/7acb22df1b8f/mv-v17-231-f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0925/3025820/8f520525c165/mv-v17-231-f5.jpg

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