Expanding the spectrum of low-grade sinonasal adenocarcinoma with biphasic seromucinous differentiation and activating HRAS/AKT1 mutations.

IF 3.9 2区 医学 Q2 CELL BIOLOGY Histopathology Pub Date : 2024-12-01 Epub Date: 2024-06-24 DOI:10.1111/his.15251
Viktoria S Hadnagy, Meike Körner, Matthias Rössle, Patrick Dubach, Gunther Pabst, Alexandra Kotulova, Stefan Weder, Robert Seifert, Elisabeth J Rushing, David Holzmann, Martin Hüllner, Sandra N Freiberger, Niels J Rupp
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Abstract

Aims: Low-grade non-intestinal-type sinonasal adenocarcinoma (LGSNAC) is a rare heterogeneous and poorly characterised group of tumours, distinct from intestinal- and salivary-type neoplasms. Therefore, further characterisation is needed for clearer biological understanding and classification.

Methods and results: Clinical, histological and molecular characterisation of four cases of biphasic, low-grade adenocarcinomas of the sinonasal tract was performed. All patients were male, aged between 48 and 78 years, who presented with polypoid masses in the nasal cavity. Microscopically, virtually all tumours were dominated by tubulo-glandular biphasic patterns, microcystic, focal (micro)papillary, oncocytic or basaloid features. Immunohistochemical staining confirmed biphasic differentiation with an outer layer of myoepithelial cells. Molecular profiling revealed HRAS (p.G13R, p.Q61R) mutations, and concomitant AKT1 (p.E17K, p.Q79R) mutations in two cases. Two cases showed potential in-situ/precursor lesions adjacent to the tumour. Follow-up periods ranged from 1 to 30 months, with one case relapsing locally after 12 and > 20 years.

Conclusion: This study further corroborates a distinct biphasic low-grade neoplasm of the sinonasal tract with seromucinous differentiation. Although morphological and molecular features overlap with salivary gland epithelial-myoepithelial carcinoma, several arguments favour categorising these tumours within the spectrum of LGSNAC.

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扩大具有双相血清粘液分化和激活 HRAS/AKT1 突变的低级别鼻窦腺癌的范围。
目的:低分化非肠型鼻窦腺癌(LGSNAC)是一种罕见的异质性肿瘤,特征不清,有别于肠型和唾液型肿瘤。因此,需要进一步确定其特征,以便更清楚地了解其生物学特性并进行分类:对四例鼻窦道双相低分化腺癌进行了临床、组织学和分子鉴定。所有患者均为男性,年龄在 48 至 78 岁之间,鼻腔内出现息肉样肿块。显微镜下,几乎所有肿瘤都以管状腺双相型、微囊性、局灶性(微)乳头状、肿瘤细胞或基底样特征为主。免疫组化染色证实肿瘤呈双相分化,外层为肌上皮细胞。分子图谱显示,两例患者存在HRAS(p.G13R、p.Q61R)突变和AKT1(p.E17K、p.Q79R)突变。有两个病例显示肿瘤附近有潜在的原位/前驱病变。随访时间从 1 个月到 30 个月不等,其中一个病例在 12 年和 20 年后局部复发:结论:这项研究进一步证实了鼻窦粘液性分化的独特双相低级别肿瘤。虽然形态学和分子特征与唾液腺上皮-肌上皮癌重叠,但有几种论点支持将这些肿瘤归类为 LGSNAC。
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来源期刊
Histopathology
Histopathology 医学-病理学
CiteScore
10.20
自引率
4.70%
发文量
239
审稿时长
1 months
期刊介绍: Histopathology is an international journal intended to be of practical value to surgical and diagnostic histopathologists, and to investigators of human disease who employ histopathological methods. Our primary purpose is to publish advances in pathology, in particular those applicable to clinical practice and contributing to the better understanding of human disease.
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