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55例脉络膜痣发展为黑色素瘤的细胞遗传学结果

Cytogenetic results of choroidal nevus growth into melanoma in 55 consecutive cases.

作者信息

Shields Carol L, Pefkianaki Maria, Mashayekhi Arman, Shields Jerry A, Ganguly Arupa

机构信息

Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA, USA.

Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

出版信息

Saudi J Ophthalmol. 2018 Jan-Mar;32(1):28-32. doi: 10.1016/j.sjopt.2018.02.004. Epub 2018 Feb 15.

Abstract

PURPOSE

To investigate the cytogenetic results of choroidal nevus with photographically-documented transformation into choroidal melanoma.

METHODS

Retrospective analysis of 55 consecutive patients who underwent fine needle aspiration biopsy (FNAB) for DNA isolation and whole genome array based assay for chromosomes 3, 6, and 8 analysis prior to plaque radiotherapy. Tumors with abnormalities in chromosomes 3 and 8 were considered high-risk for metastasis.

RESULTS

At diagnosis of choroidal nevus the mean patient age was 57 years (median 57, range 10-83 years). All patients were Caucasian and 36 (65%) were female. At the time of nevus diagnosis, the mean tumor basal diameter was 7.4 mm (median 6.5, range 1.5-18.0 mm) and tumor thickness was 2.2 mm (median 2.2, range 0.5-3.9 mm). The mean interval between diagnosis of choroidal nevus and transformation into choroidal melanoma was 58 months (median 42, range 3-238 months). At the time of melanoma diagnosis, the mean tumor basal diameter was 9.7 mm (median 9.0, range 5.0-19.0) and tumor thickness was 3.5 mm (median 3.4, range 1.3-8.1). Cytogenetic analysis of FNAB-isolated melanoma revealed 25 patients (45%) with high-risk and 30 (55%) with low-risk cytogenetic findings. The rate of tumor growth into melanoma was inversely related to high-risk cytogenetic profile (p = 0.03) as those with fast transformation ≤ 1 year showed high-risk in 80% compared to those with slow transformation > 1 year whoshowed high-risk profile in only 38%. Fast transformation into melanoma conferred a relative risk (RR) of 2.116 for high-risk cytogenetic profile, compared to slow transformation.

CONCLUSIONS

Choroidal nevus with rapid transformation into melanoma within 1 year is significantly more likely to demonstrate high-risk cytogenetic profile, at risk for metastatic disease, compared to those with slow transformation.

摘要

目的

研究经照片记录已转变为脉络膜黑色素瘤的脉络膜痣的细胞遗传学结果。

方法

回顾性分析55例连续患者,这些患者在进行斑块放射治疗前接受了细针穿刺活检(FNAB)以分离DNA,并采用基于全基因组阵列的方法对3号、6号和8号染色体进行分析。3号和8号染色体存在异常的肿瘤被认为具有转移的高风险。

结果

在诊断脉络膜痣时,患者的平均年龄为57岁(中位数57岁,范围10 - 83岁)。所有患者均为白种人,36例(65%)为女性。在痣诊断时,肿瘤的平均基底直径为7.4毫米(中位数6.5毫米,范围1.5 - 18.0毫米),肿瘤厚度为2.2毫米(中位数2.2毫米,范围0.5 - 3.9毫米)。脉络膜痣诊断与转变为脉络膜黑色素瘤之间的平均间隔时间为58个月(中位数42个月,范围3 - 238个月)。在黑色素瘤诊断时,肿瘤的平均基底直径为9.7毫米(中位数9.0毫米,范围5.0 - 19.0毫米),肿瘤厚度为3.5毫米(中位数3.4毫米,范围1.3 - 8.1毫米)。对FNAB分离出的黑色素瘤进行细胞遗传学分析显示,25例(45%)具有高风险细胞遗传学结果,30例(55%)具有低风险细胞遗传学结果。肿瘤生长为黑色素瘤的速率与高风险细胞遗传学特征呈负相关(p = 0.03),因为转变≤1年的快速转变者中80%显示为高风险,而转变>1年的缓慢转变者中只有38%显示为高风险特征。与缓慢转变相比,快速转变为黑色素瘤使高风险细胞遗传学特征的相对风险(RR)为2.116。

结论

与缓慢转变的脉络膜痣相比,1年内快速转变为黑色素瘤的脉络膜痣更有可能显示高风险细胞遗传学特征,存在转移疾病的风险。

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