导管内唾液腺癌的细胞形态学特征：组织学、分子和临床相关性的 13 例 FNA 病例的多机构研究。
Cytomorphologic features of intraductal salivary gland carcinoma: A multi-institutional study of 13 FNA cases with histologic, molecular, and clinical correlations.
机构信息
Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
Department of Pathology, Johns Hopkins Hospital, Baltimore, Maryland.
出版信息
Cancer Cytopathol. 2021 Dec;129(12):928-946. doi: 10.1002/cncy.22504. Epub 2021 Oct 1.
BACKGROUND
Intraductal carcinoma of the salivary gland (IDC) is a rare cancer with potential actionable targets, including RET fusions. Histologic and molecular features of IDC were recently reported, but cytomorphologic data are limited. In the largest multi-institutional fine-needle aspiration (FNA) series, the authors describe the cytomorphologic features of 13 IDC cases with available clinical, radiologic, histopathologic, and molecular data.
METHODS
The cases included 13 FNAs for 9 low-grade (LG) IDCs and 4 high-grade (HG) IDCs with corresponding histopathology and available molecular, imaging, and clinical data. Smears and liquid-based preparations available for 12 FNAs were semiquantitatively scored for key cytomorphologic findings and correlated with the corresponding resection.
RESULTS
LG IDC FNAs showed a cellular, biphasic population of large, atypical ductal cells with mildly pleomorphic nuclei in a clean background and a minor population of small, uniform myoepithelial cells. In contrast, all HG IDC FNAs showed predominantly ductal cells with marked nuclear pleomorphism, coarse chromatin, and necrosis. With the Milan system, most LG and HG IDC FNAs were classified as either salivary gland neoplasms of uncertain malignant potential (54%) or malignant (31%). Immunohistochemistry showed ductal epithelial reactivity with mammaglobin, androgen receptor, and S100, whereas myoepithelial cells were positive for p63 and/or calponin. Among cases with next-generation sequencing, 4 LG IDCs showed NCOA4-RET gene fusions, whereas an HG IDC showed HRAS and PIK3CA mutations.
CONCLUSIONS
The cytomorphology of IDC overlaps with other benign and malignant salivary gland neoplasms. Immunohistochemistry limits the differential diagnosis, but definitive classification requires molecular analysis. A diagnosis of IDC has potential implications for patient management.
背景
唾液腺癌管内癌（IDC）是一种罕见的癌症，具有潜在的可操作靶点，包括 RET 融合。最近报道了 IDC 的组织学和分子特征，但细胞形态学数据有限。在最大的多机构细针抽吸（FNA）系列中，作者描述了 13 例 IDC 病例的细胞形态学特征，这些病例具有可用的临床、放射学、组织病理学和分子数据。
方法
这些病例包括 9 例低级别（LG）IDC 和 4 例高级别（HG）IDC 的 13 例 FNA，相应的组织病理学和可用的分子、成像和临床数据。12 例 FNA 可提供涂片和液基制备物，对关键细胞形态学发现进行半定量评分，并与相应的切除标本相关联。
结果
LG IDC FNA 显示出大的、非典型的导管细胞的细胞性、双相性群体，核轻度多形性，背景干净，小的、均匀的肌上皮细胞数量较少。相比之下，所有 HG IDC FNA 均显示出主要的导管细胞，具有明显的核多形性、粗糙的染色质和坏死。根据米兰系统，大多数 LG 和 HG IDC FNA 被归类为唾液腺肿瘤恶性潜能不确定（54%）或恶性（31%）。免疫组织化学显示导管上皮对乳腺球蛋白、雄激素受体和 S100 有反应，而肌上皮细胞对 p63 和/或钙调蛋白呈阳性。在进行下一代测序的病例中，4 例 LG IDC 显示 NCOA4-RET 基因融合，而 1 例 HG IDC 显示 HRAS 和 PIK3CA 突变。
结论
IDC 的细胞形态学与其他良性和恶性唾液腺肿瘤重叠。免疫组织化学限制了鉴别诊断，但明确的分类需要分子分析。IDC 的诊断对患者管理有潜在影响。
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