Pusztaszeri Marc P, Faquin William C
Department of Pathology, Geneva University Hospital, 1 rue Michel-Servet, Geneva 14 1211, Switzerland.
Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts.
Semin Diagn Pathol. 2015 Jul;32(4):264-74. doi: 10.1053/j.semdp.2014.12.008. Epub 2014 Dec 19.
Salivary gland tumors (SGT) are notorious for their extraordinary diversity and for the morphological overlap that exists between many of these entities. Fine-needle aspiration biopsy (FNAB) has a well-established role in the evaluation of patients with a salivary gland lesion, helping to guide clinical management. However, salivary gland FNAB has several limitations and does not allow for a specific diagnosis in some cases. For these reasons, salivary gland FNAB is considered one of the most challenging areas in cytopathology. Over the last decade, new salivary gland entities have been recognized, enlarging SGT diversity and complexity even more. In addition, a subset of SGT, including common entities such as pleomorphic adenoma and uncommon new entities such as mammary analog secretory carcinoma, have been characterized cytogenetically by the presence of specific translocations. The molecular consequences of these translocations and their potential prognostic and therapeutic values are not yet well characterized. However, these translocations and their resulting fusion oncogenes and oncoproteins can be used as diagnostic clues in salivary gland FNAB material in order to overcome the limitations of cytomorphological evaluation alone. In this review, we focus on SGTs currently known to harbor translocations and fusion genes, including uncommon and recently recognized entities, and discuss their potential application to salivary gland FNAB.
涎腺肿瘤(SGT)以其异常的多样性以及许多实体之间存在的形态学重叠而闻名。细针穿刺活检(FNAB)在涎腺病变患者的评估中具有既定作用,有助于指导临床管理。然而,涎腺FNAB存在一些局限性,在某些情况下无法做出明确诊断。因此,涎腺FNAB被认为是细胞病理学中最具挑战性的领域之一。在过去十年中,新的涎腺实体被发现,这进一步增加了SGT的多样性和复杂性。此外,一部分SGT,包括常见的多形性腺瘤等实体以及罕见的新实体如乳腺样分泌癌,已通过特定易位的存在进行了细胞遗传学特征分析。这些易位的分子后果及其潜在的预后和治疗价值尚未得到充分表征。然而,这些易位及其产生的融合癌基因和癌蛋白可作为涎腺FNAB材料中的诊断线索,以克服仅靠细胞形态学评估的局限性。在本综述中,我们重点关注目前已知存在易位和融合基因的SGT,包括罕见的和最近发现的实体,并讨论它们在涎腺FNAB中的潜在应用。