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罕见肺部肿瘤——从形态学到遗传学

Unusual lung tumors-from morphology to genetics.

作者信息

Boland Jennifer M

机构信息

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

出版信息

Mod Pathol. 2022 Jan;35(Suppl 1):57-65. doi: 10.1038/s41379-021-00914-7. Epub 2021 Sep 13.

Abstract

Most pathologists are well versed in the diagnosis of lung cancer, given the common nature of the disease. Occasionally more unusual neoplasms are encountered in lung biopsies and resections, which may be difficult to distinguish from "run of the mill" lung cancer cases based on overlapping morphologic and immunophenotypic features. The accurate diagnosis of these rare entities is quite challenging and requires careful morphological examination paired with judicious use of ancillary immunohistochemical and genetic studies. Herein, the clinicopathological and genetic features of five unusual lung tumors will be reviewed, including thoracic SMARCA4-deficient undifferentiated tumor, NUT carcinoma, sclerosing pneumocytoma, primary pulmonary myxoid sarcoma/angiomatoid fibrous histiocytoma, and bronchiolar adenoma/ ciliated muconodular papillary tumor. Since recognition of these entities by pathologists is of increasing importance to guide prognosis and therapy, emphasis will be placed on practical tips to reach these rare diagnoses with confidence.

摘要

鉴于肺癌的常见性,大多数病理学家都精通肺癌的诊断。偶尔在肺活检和切除术中会遇到更不常见的肿瘤,基于重叠的形态学和免疫表型特征,这些肿瘤可能难以与“普通”肺癌病例区分开来。准确诊断这些罕见实体颇具挑战性,需要仔细的形态学检查,并明智地使用辅助免疫组织化学和基因研究。本文将回顾五种不常见肺肿瘤的临床病理和基因特征,包括胸段SMARCA4缺陷型未分化肿瘤、NUT癌、硬化性肺细胞瘤、原发性肺黏液样肉瘤/血管样纤维组织细胞瘤以及细支气管腺瘤/纤毛黏液结节状乳头状肿瘤。由于病理学家对这些实体的认识对于指导预后和治疗越来越重要,因此将重点介绍有助于自信地做出这些罕见诊断的实用技巧。

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