Duke-NUS Medical School, Singapore, Singapore.
Department of Anatomical Pathology, Singapore General Hospital, Singapore, Singapore.
J Clin Pathol. 2020 Jan;73(1):51-56. doi: 10.1136/jclinpath-2019-206208. Epub 2019 Oct 29.
Fibroepithelial tumours are biphasic neoplasms of the breast comprising the common benign fibroadenomas and the less common phyllodes tumours (PTs), which have recurrent potential. PTs are classified into benign, borderline or malignant, based on five histopathological criteria, with malignant PTs having the highest metastatic capability. Accurate diagnosis can be challenging due to the subjective assessment of histopathological parameters. Fibroadenomas bear morphological similarities to benign PTs, while borderline and malignant PTs can sometimes be difficult to distinguish from other spindle cell tumours of the breast. From clonality studies to whole-genome sequencing, much research has been conducted to elucidate the molecular pathogenesis of fibroepithelial tumours, which, in turn, have allowed leveraging the findings for diagnostic applications, including grading of PTs. The most noteworthy discovery was of recurrent mutations in both fibroadenomas and PTs. Subsequent studies also uncovered relatively frequent genetic mutations in promoter and A customised panel of 16 most frequently mutated genes in fibroepithelial tissues has been compiled previously and has contributed to resolving a few diagnostic dilemmas. This review will introduce the 16 genes and focus on the top three that are most frequently mutated in fibroepithelial tumours: , , and .
纤维上皮性肿瘤是一种乳腺的双相性肿瘤,包括常见的良性纤维腺瘤和较少见的叶状肿瘤(PT),后者具有复发性。PT 根据五项组织病理学标准分为良性、交界性或恶性,恶性 PT 具有最高的转移能力。由于组织病理学参数的主观评估,准确诊断可能具有挑战性。纤维腺瘤与良性 PT 具有形态学相似性,而交界性和恶性 PT 有时难以与乳腺的其他梭形细胞肿瘤区分。从克隆性研究到全基因组测序,已经进行了大量研究来阐明纤维上皮性肿瘤的分子发病机制,这反过来又为诊断应用提供了依据,包括 PT 的分级。最值得注意的发现是纤维腺瘤和 PT 中均存在 突变的反复出现。随后的研究还揭示了 启动子中相对频繁的基因突变和 在纤维上皮组织中,以前已经编制了一个定制的包含 16 个最常突变基因的面板,并有助于解决一些诊断难题。这篇综述将介绍这 16 个基因,并重点介绍在纤维上皮性肿瘤中最常突变的前三个基因: 、 和 。