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不典型导管增生:诊断、管理和分子特征的最新进展。

Atypical ductal hyperplasia: update on diagnosis, management, and molecular landscape.

机构信息

Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.

The Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia.

出版信息

Breast Cancer Res. 2018 May 2;20(1):39. doi: 10.1186/s13058-018-0967-1.

Abstract

BACKGROUND

Atypical ductal hyperplasia (ADH) is a common diagnosis in the mammographic era and a significant clinical problem with wide variation in diagnosis and treatment. After a diagnosis of ADH on biopsy a proportion are upgraded to carcinoma upon excision; however, the remainder of patients are overtreated. While ADH is considered a non-obligate precursor of invasive carcinoma, the molecular taxonomy remains unknown.

MAIN TEXT

Although a few studies have revealed some of the key genomic characteristics of ADH, a clear understanding of the molecular changes associated with breast cancer progression has been limited by inadequately powered studies and low resolution methodology. Complicating factors such as family history, and whether the ADH present in a biopsy is an isolated lesion or part of a greater neoplastic process beyond the limited biopsy material, make accurate interpretation of genomic features and their impact on progression to malignancy a challenging task. This article will review the definitions and variable management of the patients diagnosed with ADH as well as the current knowledge of the molecular landscape of ADH and its clonal relationship with ductal carcinoma in situ and invasive carcinoma.

CONCLUSIONS

Molecular data of ADH remain sparse. Large prospective cohorts of pure ADH with clinical follow-up need to be evaluated at DNA, RNA, and protein levels in order to develop biomarkers of progression to carcinoma to guide management decisions.

摘要

背景

非典型性导管增生(ADH)在乳腺 X 线摄影时代是一种常见的诊断,并且在诊断和治疗方面存在广泛的差异,是一个重要的临床问题。在活检诊断为 ADH 后,一部分患者在切除后升级为癌;然而,其余的患者则过度治疗。虽然 ADH 被认为是浸润性癌的非强制性前体,但分子分类仍然未知。

主要内容

尽管少数研究揭示了 ADH 的一些关键基因组特征,但由于研究样本量不足和方法分辨率低,对与乳腺癌进展相关的分子变化的认识仍受到限制。复杂的因素,如家族史,以及活检中存在的 ADH 是孤立病变还是超出有限活检材料的更大肿瘤过程的一部分,使得对基因组特征及其对恶性进展的影响的准确解释成为一项具有挑战性的任务。本文将回顾诊断为 ADH 的患者的定义和可变管理,以及 ADH 的分子特征及其与导管原位癌和浸润性癌的克隆关系的现有知识。

结论

ADH 的分子数据仍然很少。需要对纯 ADH 进行大型前瞻性队列研究,并在 DNA、RNA 和蛋白质水平进行临床随访,以开发进展为癌的生物标志物,从而指导管理决策。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63ce/5932853/64e817a153ba/13058_2018_967_Fig1_HTML.jpg

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