富含肌上皮的多形性腺瘤，染色体 8 上有新的 PLAG1 反转以及 LRP1B、PBRM1 和 TCF3 突变

IF 1.2 4区医学 Q4 CELL BIOLOGY

Cytopathology Pub Date : 2024-11-16 DOI:10.1111/cyt.13459

Maria F Gonzalez, Jianming Pei, Yuan Rong, Anjali Seth

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引用次数: 0

摘要

多形性腺瘤（PA）是全球最常见的唾液腺肿瘤（50%-70%）。大多数 PA 病例可直接诊断。然而，由于多形性腺瘤的形态多种多样，在许多病例中，多形性腺瘤是由三种成分中的一种占优势或存在移行上皮造成的，因此诊断可能具有挑战性。我们介绍了一例 64 岁男性的病例，他有前列腺癌病史，16 年前曾做过右侧颌下腺切除术，既往诊断不明，最近在手术床上肿块再次生长。在细胞学和手术病理标本中，该肿瘤显示出主要的纺锤形细胞形态、细胞角蛋白阳性、肌上皮标记物的不同表达，以及新的 8 号染色体倒置、LRP1B、PBRM1 和 TCF3 突变。

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Myoepithelial-Rich Pleomorphic Adenoma With Novel PLAG1 Inversion on Chromosome 8, and LRP1B, PBRM1 and TCF3 Mutations.

Pleomorphic adenoma (PA) is the most common salivary gland neoplasm worldwide (50%-70%). Most cases of PA are straightforward diagnoses. However, the diagnosis may be challenging due to the morphological diversity of PAs, which in many cases is caused by the predominance of one of the three components or the presence of metaplastic epithelium. We present the case of a 64-year-old male with a history of prostate cancer and right submandibular gland excision 16 years ago with an unknown previous diagnosis and recent regrowth of his mass in the surgical bed. The tumour showed a predominant spindle cell morphology, cytokeratin-positivity, variable expression of myoepithelial markers in the cytology and surgical pathology specimens, and novel inversion of the chromosome 8, and LRP1B, PBRM1 and TCF3 mutations.

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来源期刊

Cytopathology 生物-病理学

CiteScore

2.30

自引率

15.40%

发文量

107

审稿时长

6-12 weeks

期刊介绍： The aim of Cytopathology is to publish articles relating to those aspects of cytology which will increase our knowledge and understanding of the aetiology, diagnosis and management of human disease. It contains original articles and critical reviews on all aspects of clinical cytology in its broadest sense, including: gynaecological and non-gynaecological cytology; fine needle aspiration and screening strategy. Cytopathology welcomes papers and articles on: ultrastructural, histochemical and immunocytochemical studies of the cell; quantitative cytology and DNA hybridization as applied to cytological material.