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下一代测序提高了 Spitz 和 Spitz 样黑素细胞病变诊断的一致性和准确性。

Next-generation sequencing improves agreement and accuracy in the diagnosis of Spitz and spitzoid melanocytic lesions.

机构信息

Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.

Department of Pathology and Laboratory Medicine, Tufts Medical School, Boston, Massachusetts, USA.

出版信息

J Cutan Pathol. 2022 Oct;49(10):868-874. doi: 10.1111/cup.14291. Epub 2022 Jul 24.

Abstract

BACKGROUND

Spitzoid melanocytic neoplasms can be challenging to diagnose on histopathology alone. Next-generation sequencing (NGS) offers promise as a valuable aid in the diagnosis. Recently, one study reported increased inter-rater agreement in the diagnosis of spitzoid melanocytic neoplasms among 20 expert melanoma pathologists after incorporating NGS data. We hypothesized that NGS would carry a similar utility in a broader group of dermatopathologists and general pathologists.

METHODS

Sixty-three participants of a live online (www.Dermpedia.org) CME course rendered a diagnosis on 70 cases composed of melanocytic neoplasms with spitzoid features. In Survey 1, cases included H&E slides and demographic information only, while Survey 2 included NGS data.

RESULTS

With NGS information, inter-rater agreement significantly improved from "fair" to "almost perfect" and from "fair" to "substantial" for categorizing lesions as Spitz versus non-Spitz and conventional melanoma versus not, respectively. There was also an increase in diagnostic accuracy, evidenced by improved recognition of three metastatic tumors as being conventional melanomas.

CONCLUSION

The study supports the adoption of NGS as a valuable diagnostic adjunct for both expert and broader dermatopathologists in their assessments of spitzoid neoplasms.

摘要

背景

仅凭组织病理学,Spitz 样黑色素细胞肿瘤的诊断具有挑战性。下一代测序(NGS)有望成为诊断的有力辅助手段。最近,一项研究报告称,在纳入 NGS 数据后,20 名专家黑色素瘤病理学家在诊断 Spitz 样黑色素细胞肿瘤方面的诊断一致性提高。我们假设 NGS 在更广泛的皮肤科病理学家和一般病理学家中具有类似的效用。

方法

在一个在线(www.Dermpedia.org)CME 课程的 63 名参与者对由具有 Spitz 样特征的黑色素瘤组成的 70 例病例进行了诊断。在调查 1 中,病例仅包括 H&E 幻灯片和人口统计学信息,而调查 2 则包括 NGS 数据。

结果

有了 NGS 信息,对病变进行 Spitz 与非 Spitz 以及传统黑色素瘤与非黑色素瘤的分类,观察者间的一致性从“一般”显著提高到“几乎完美”,从“一般”提高到“显著”。诊断准确性也有所提高,这表现在对三个转移性肿瘤作为传统黑色素瘤的识别得到了改善。

结论

该研究支持将 NGS 作为一种有价值的诊断辅助手段,供专家和更广泛的皮肤科病理学家用于评估 Spitz 样肿瘤。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d291/9796257/f7e92afe59d4/CUP-49-868-g004.jpg

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