Background

Repigmentation at previous biopsy sites pose a significant diagnostic dilemma given clinical and histologic similarities between recurrent nevi and locally recurrent melanoma. Though common in melanoma, the role of TERT promoter mutations (TPMs) in recurrent nevi is unknown.

Objective

We investigated the role of TPMs in recurrent nevi and whether the presence of hotspot TPM distinguishes recurrent nevi from locally recurrent melanoma. We also characterized clinical and histologic features differentiating these lesions.

Methods

We analyzed 11 locally recurrent melanomas, 17 recurrent nevi, and melanoma and nevus controls to determine TPM status. We also assessed clinical and histologic features of the recurrent groups.

Results

Hotspot TPMs were more common in recurrent melanomas than recurrent nevi (P = .008). Recurrent melanomas were more likely to have solar elastosis (P = .0047), multilayering of melanocytes in the epidermis (P = .0221), adnexal involvement (P = .0069), and epidermal consumption (P = .0204). Recurrent nevi had intra-epidermal atypia limited to the area above the scar (P < .0001) and occurred earlier after the original biopsy (P < .0008). Solar elastosis, months to recurrence, and hotspot TPMs were independently associated with recurrent melanoma in multivariate analysis.

Limitations

This was a retrospective study.

Conclusion

Hotspot TPMs are significantly more frequent in recurrent melanomas and could serve as a diagnostic clue in histologically ambiguous cases.

中文翻译：

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的作用TERT的回顾性病例对照研究：启动子突变在复发性黑色素瘤复发区分痣

背景

鉴于复发性痣和局部复发性黑色素瘤之间在临床和组织学上的相似性，在先前的活检部位进行的再置换带来了重大的诊断难题。尽管在黑色素瘤中很常见，但TERT启动子突变（TPM）在复发性痣中的作用尚不清楚。

客观的

我们调查了TPM在复发性痣中的作用以及热点TPM的存在是否将复发性痣与局部复发性黑色素瘤区分开来。我们还表征了区分这些病变的临床和组织学特征。

方法

我们分析了11例局部复发的黑色素瘤，17例复发的痣以及黑色素瘤和痣的对照，以确定TPM的状态。我们还评估了复发组的临床和组织学特征。

结果

热点TPM在复发性黑色素瘤中比复发性痣更为常见（P  = 0.008）。复发性黑色素瘤更有可能患有太阳弹性（P  = .0047），表皮中黑色素细胞多层化（P  = .0221），附件受累（P  = .0069）和表皮消耗（P  = .0204）。复发性痣的表皮内非典型性局限于瘢痕上方（P  <.0001），并且在最初的活检后较早发生（P  <.0008）。在多变量分析中，太阳弹性，复发数月和热点TPM与复发性黑色素瘤独立相关。

局限性

这是一项回顾性研究。

结论

热点TPM在复发性黑色素瘤中的发生率明显更高，并且可以作为组织学上模棱两可的病例的诊断线索。