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涎腺微筛状腺癌:一种独特的肿瘤实体,其特征为 SS18::ZBTB7A 融合。

Microcribriform Adenocarcinoma of Salivary Glands: A Unique Tumor Entity Characterized by an SS18::ZBTB7A Fusion.

机构信息

Laboratory Medicine Program, University Health Network, Toronto General Hospital.

Department of Pathobiology and Laboratory Medicine, University of Toronto.

出版信息

Am J Surg Pathol. 2023 Feb 1;47(2):194-201. doi: 10.1097/PAS.0000000000001980. Epub 2022 Oct 12.

Abstract

The landscape of salivary gland carcinomas is ever-changing, with a growing list of new tumors and newly elucidated variants of well-known tumor entities. The routine use of next-generation sequencing has been instrumental in identifying novel fusions and tumor entities, which has helped bring the classification to a more objective and evidenced-based model. However, morphology remains critical in assessing the validity of these novel molecular findings, and most importantly, in assessing which of these findings will have an impact on the prognosis and treatment decisions for patients. The recognition of microsecretory adenocarcinoma (MSA) as a distinct low-grade malignancy of salivary glands, underpinned by MEF2C::SS18 , and a single possibly related case of SS18::ZBTB7A , recently expanded this growing list of distinctive tumors. It was not until now, however, that the morphology of the latter case was known to be unique and reproducible. The authors have now seen 4 of these distinctive tumors that show a combination of distinctive oncocytic cells forming compact glandular growth as well as amphophilic cells forming tubular growth, and suggest the appellation "microcribriform adenocarcinoma" (MCA). So far, these tumors appear to preferentially occur in nonoral sites (2 parotid, 1 submandibular gland, and 1 bronchial seromucous glands). By immunohistochemistry, they express S100 and SOX-10 with focal outer myoepithelial cells marked by circumferential p63, p40, and smooth muscle actin staining around some of the nests and tubules. The tumors show infiltrative growth within a hyalinized and myxoid stroma. Cytologically, they appear generally low grade, similar to MSA. The morphologic and molecular uniformity of these 4 microcribriform adenocarcinoma cases warrants their recognition, and while related to MSA, they are sufficiently different to be classified as a distinct tumor. So far, in limited follow-up, these tumors appear to be relatively indolent.

摘要

唾液腺癌的种类不断变化,出现了越来越多的新肿瘤和新的已知肿瘤实体变体。新一代测序的常规使用有助于识别新的融合和肿瘤实体,这有助于使分类更加客观和基于证据。然而,形态学在评估这些新的分子发现的有效性方面仍然至关重要,最重要的是,在评估这些发现中哪些会对患者的预后和治疗决策产生影响方面。MEF2C::SS18 支持的微分泌性腺癌(MSA)作为一种独特的低级别唾液腺癌,以及一个可能与 SS18::ZBTB7A 相关的单一病例,最近扩展了这个不断增长的独特肿瘤列表。直到现在,后者病例的形态学才被认为是独特且可重复的。作者现在已经看到了 4 例具有独特形态的这种肿瘤,这些肿瘤表现为形成致密腺性生长的独特嗜酸细胞和形成管状生长的双嗜性细胞的组合,并提出了“微筛状腺癌”(MCA)的名称。到目前为止,这些肿瘤似乎优先发生在非口腔部位(2 例腮腺、1 例下颌下腺和 1 例支气管浆液黏液腺)。通过免疫组织化学,它们表达 S100 和 SOX-10,并且部分巢和小管周围有环绕性 p63、p40 和平滑肌肌动蛋白染色的局灶性外肌上皮细胞。肿瘤在玻璃样和黏液样基质中呈浸润性生长。细胞学上,它们通常表现为低级别,类似于 MSA。这 4 例微筛状腺癌的形态学和分子一致性证明了它们的识别,虽然与 MSA 相关,但它们足够不同,可以分类为一种独特的肿瘤。到目前为止,在有限的随访中,这些肿瘤似乎相对惰性。

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