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基于组织学和基因组畸变的非典型Spitzoid肿瘤的诊断和预后分类:一项长期随访的前瞻性队列研究

Diagnostic and prognostic classification of atypical spitzoid tumours based on histology and genomic aberrations: A prospective cohort study with long-term follow-up.

作者信息

Gassenmaier Maximilian, Soltanpour Narges, Held Laura, Metzler Gisela, Yazdi Amir S, Brecht Ines B, Schneider Dominik T, Stadler Rudolf, Garbe Claus, Bauer Jürgen

机构信息

Department of Dermatology, Eberhard Karls University of Tübingen, Tübingen, Germany.

Department of Dermatology, Eberhard Karls University of Tübingen, Tübingen, Germany.

出版信息

Eur J Cancer. 2022 Mar;163:200-210. doi: 10.1016/j.ejca.2021.12.016. Epub 2022 Jan 31.

Abstract

BACKGROUND

Histological classification of atypical spitzoid tumours (ASTs) is unreliable, and categorisation of these lesions into benign and malignant is poorly reproducible. Here, we classified ASTs based on histology and chromosomal aberrations and explored the prognostic significance of genomic aberrations in a prospective cohort with a long-term follow-up.

PATIENTS AND METHODS

Histologically equivocal ASTs from 76 patients were analysed by array comparative genomic hybridisation (aCGH). Tumours were histologically assessed by a panel of dermatopathologist before and after aCGH and classified as benign, ambiguous or malignant. Chromosomal aberrations were correlated with an outcome.

RESULTS

Chromosomal aberrations were detected in 45 (59%) of 76 ASTs (median age: 16 years, range: 0-74; median follow-up: 90 months, range: 13-153). The initial histological diagnosis was changed upon presentation of aCGH results in 36 of 76 cases (47%). The final diagnostic interpretation classified 61% of the lesions as benign, 18% as ambiguous and 21% as malignant. Positive sentinel lymph node biopsies (6+/29) occurred at similar rates in all diagnostic groups (P = 0.83) and were not associated with an unfavourable outcome. Two patients had local recurrences, but none of the patients developed metastasis beyond the sentinel lymph node.

CONCLUSIONS

All ASTs had an excellent prognosis, even in cases with worrisome morphology and chromosomal aberrations. With no distant metastasis or death in long-term follow-up of 76 patients, no correlation between chromosomal aberrations and prognosis was possible. However, it seems likely that in larger cohorts, metastases would arise in cases with complex aberrations and these patients should undergo clinical follow-up.

摘要

背景

非典型斯皮茨样肿瘤(ASTs)的组织学分类不可靠,将这些病变分为良性和恶性的分类方法重复性较差。在此,我们基于组织学和染色体畸变对ASTs进行分类,并在一个长期随访的前瞻性队列中探讨基因组畸变的预后意义。

患者与方法

对76例患者组织学上难以明确诊断的ASTs进行了阵列比较基因组杂交(aCGH)分析。在进行aCGH前后,由一组皮肤病理学家对肿瘤进行组织学评估,并分为良性、不明确或恶性。将染色体畸变与结果进行关联分析。

结果

76例ASTs中有45例(59%)检测到染色体畸变(中位年龄:16岁,范围:0 - 74岁;中位随访时间:90个月,范围:13 - 153个月)。76例中有36例(47%)在aCGH结果出来后初始组织学诊断发生了改变。最终诊断解释将61%的病变分类为良性,18%为不明确,21%为恶性。所有诊断组前哨淋巴结活检阳性率相似(6+/29)(P = 0.83),且与不良预后无关。2例患者出现局部复发,但无一例患者发生前哨淋巴结以外的转移。

结论

所有ASTs预后良好,即使是形态令人担忧且有染色体畸变的病例。76例患者长期随访中无远处转移或死亡,因此无法确定染色体畸变与预后之间的相关性。然而,在更大的队列中,有复杂畸变的病例似乎可能会发生转移,这些患者应接受临床随访。

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