关键词: MEF2C::SS18 Microsecretory adenocarcinoma Salivary gland tumours

Mesh : Humans Adenocarcinoma / pathology genetics diagnosis Palate, Hard / pathology Salivary Gland Neoplasms / pathology genetics diagnosis Biomarkers, Tumor / analysis genetics Male Immunohistochemistry Palatal Neoplasms / pathology diagnosis genetics In Situ Hybridization, Fluorescence Middle Aged Proto-Oncogene Proteins Repressor Proteins

来  源:   DOI:10.1186/s13000-024-01514-0   PDF(Pubmed)

Abstract:
Microsecretory adenocarcinoma (MSA) is a new type of salivary gland neoplasm identified in the 2022 World Health Organization Classification of Head and Neck Tumour (Skalova et al., Head Neck Pathol 16:40-53, 2022) and is characterized by a unique set of histomorphologic and immunohistochemical features and a recurrent MEF2C::SS18 fusion. MSA was initially misdiagnosed as another salivary gland tumour due to its similar morphology; until recently, only fewer than 50 cases were reported. We present a case of MSA of the hard palate with diverse architectural growth patterns, bland cytological features, abundant basophilic intraluminal secretions and fibromyxoid stroma. The tumour cells were positive for the SOX10, S100, and p63 protein and negative for the p40 protein according to immunohistochemistry. SS18 gene rearrangement was demonstrated via break-apart fluorescence in situ hybridization. We also provided a comprehensive literature review and integrated the clinicopathological features, immunophenotype, and molecular alterations of the disease. A comprehensive understanding of MSA enables us to accurately distinguish and categorize MSA from other salivary gland tumours with analogous morphologies.
摘要:
微分泌性腺癌(MSA)是2022年世界卫生组织头颈部肿瘤分类中发现的一种新型唾液腺肿瘤(Skalova等人。,头颈Pathol16:40-53,2022),其特征是一组独特的组织形态学和免疫组织化学特征以及复发性MEF2C::SS18融合。MSA由于其形态相似,最初被误诊为另一种唾液腺肿瘤;直到最近,只有不到50例报告。我们提出了一个具有不同建筑生长模式的硬腭MSA案例,温和的细胞学特征,丰富的嗜碱性管腔内分泌物和纤维粘液样基质。根据免疫组织化学,肿瘤细胞对SOX10,S100和p63蛋白呈阳性,对p40蛋白呈阴性。通过分裂荧光原位杂交证明了SS18基因重排。我们还提供了全面的文献综述,并整合了临床病理特征,免疫表型,和疾病的分子改变。对MSA的全面了解使我们能够准确地将MSA与具有类似形态的其他唾液腺肿瘤区分和分类。
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