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将临床/皮肤镜检查结果与荧光原位杂交相结合,诊断具有不明确组织病理学特征的黑素细胞肿瘤。

Integrating clinical/dermatoscopic findings and fluorescence in situ hybridization in diagnosing melanocytic neoplasms with less than definitive histopathologic features.

机构信息

Department of Dermatology, Northwestern University, Chicago, Illinois 60611, USA.

出版信息

J Am Acad Dermatol. 2012 Jun;66(6):917-22. doi: 10.1016/j.jaad.2011.05.051. Epub 2011 Oct 1.

Abstract

BACKGROUND

Early diagnosis of melanoma remains of paramount importance, because it has been widely demonstrated that survival is strongly related to Breslow thickness. Several studies have shown that dermatoscopy improves accuracy in the diagnosis of melanoma. Although histopathology is considered the gold standard to differentiate melanoma from nevi, there are some cases of melanoma in which the histopathologic features are less than definitive. It has also been demonstrated that fluorescence in situ hybridization can be used to differentiate melanomas from nevi based on chromosomal copy number aberrations.

OBJECTIVE

In this study we present a case series to demonstrate the value of combining fluorescence in situ hybridization and dermatoscopy/clinical history to enhance diagnostic capability for selected cases of early melanoma.

METHODS

Cases were identified that had dermatoscopic findings or clinical history highly suggestive of melanoma and fluorescence in situ hybridization evaluation positive for melanoma, but histopathologic features that were less than definitive. Two dermatopathologists performed independent histologic analysis of specimens and two dermatologists experienced in dermatoscopy reviewed dermatoscopic and clinical data.

RESULTS

Nine cases meeting inclusion criteria were identified. In 6 cases the histologic differential diagnosis was dysplastic nevus versus early melanoma whereas in 3 cases the differential diagnosis included Spitz nevus versus early melanoma.

LIMITATIONS

Limitations of this study include restrictive inclusion criteria and study design restricted to a case series.

CONCLUSION

This exploratory study demonstrates that in a subset of early melanoma cases, combining multiple diagnostic modalities such as dermatoscopy and molecular techniques with histology enhances detection of early melanoma.

摘要

背景

早期诊断黑色素瘤仍然至关重要,因为已经广泛证明,生存与 Breslow 厚度密切相关。多项研究表明,皮肤镜检查可提高黑色素瘤诊断的准确性。尽管组织病理学被认为是区分黑色素瘤和痣的金标准,但有些黑色素瘤的组织病理学特征并不明确。已经证明,荧光原位杂交可根据染色体拷贝数异常来区分黑色素瘤和痣。

目的

本研究通过一系列病例来展示结合荧光原位杂交和皮肤镜检查/临床病史以提高对特定早期黑色素瘤病例诊断能力的价值。

方法

确定了具有高度提示黑色素瘤的皮肤镜检查结果或临床病史,且荧光原位杂交评估阳性但组织病理学特征不明确的病例。两名皮肤病理学家对标本进行独立的组织学分析,两名具有皮肤镜检查经验的皮肤科医生回顾了皮肤镜和临床数据。

结果

确定了符合纳入标准的 9 例病例。在 6 例中,组织学鉴别诊断为发育不良痣与早期黑色素瘤,而在 3 例中,鉴别诊断包括 Spitz 痣与早期黑色素瘤。

局限性

本研究的局限性包括限制的纳入标准和仅限于病例系列的研究设计。

结论

这项探索性研究表明,在某些早期黑色素瘤病例中,将皮肤镜检查和分子技术等多种诊断方法与组织学相结合,可以提高早期黑色素瘤的检出率。

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