Bo Wu, Schoedel Karen E, Carty Sally E, Radkay Lisa A, Ohori N Paul, Nikiforov Yuri E, Nikiforova Marina N, Yip Linwah
Division of Endocrine Surgery, University of Pittsburgh, 3471 Fifth Ave, Kauffman Bldg, Ste 101, Pittsburgh, PA, 15213, USA.
Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
World J Surg. 2018 Sep;42(9):2840-2845. doi: 10.1007/s00268-018-4548-3.
Parathyroid glands can mimic thyroid follicular lesions on fine-needle aspiration (FNA) cytology and can lead to unnecessary or incorrect surgery. Newer molecular panel tests using next-generation sequencing (NGS) include analysis of cell type-specific gene expression profiles such as parathyroid. The study aim is to determine the frequency and clinical implications of parathyroid tissue identification by molecular testing in cytologically indeterminate "thyroid" lesions.
Molecular analysis of indeterminate thyroid FNA specimens is obtained routinely and relies on amplification-based NGS inclusive of PTH-specific expression profiles. For this study, we retrospectively examined the clinical data and management of patients with molecular results positive for PTH expression from May 2014 until May 2016.
Among 4765 consecutive patients with indeterminate cytology for a presumed thyroid nodule, NGS instead indicated a parathyroid lesion in 20 patients (0.42%). The clinical data of 15 patients were available, and the subsequent clinical management was altered in 93% (14/15 patients), including five (33%) eucalcemic patients who could avoid unnecessary surgery. Primary hyperparathyroidism was not suspected in seven patients until the molecular analysis results, and primary hyperparathyroidism was diagnosed in one (14%). During parathyroid exploration, most patients (6/8, 75%) required concurrent thyroidectomy or lobectomy, but thyroid preservation was still possible in two patients. A parathyroid gland was histologically confirmed in 89%.
In 0.42% of patients with indeterminate cytology results, next-generation molecular results will indicate the presence of a parathyroid lesion. When this occurs, it is accurate and can robustly impact clinical management (93%).
甲状旁腺在细针穿刺（FNA）细胞学检查中可表现为类似甲状腺滤泡性病变，从而导致不必要或错误的手术。使用下一代测序（NGS）的新型分子检测 panel 包括对甲状旁腺等细胞类型特异性基因表达谱的分析。本研究的目的是确定在细胞学检查结果不确定的“甲状腺”病变中，通过分子检测识别甲状旁腺组织的频率及其临床意义。
对不确定的甲状腺 FNA 标本进行常规分子分析，依靠基于扩增的 NGS，包括甲状旁腺特异性表达谱。在本研究中，我们回顾性分析了 2014 年 5 月至 2016 年 5 月间甲状旁腺激素（PTH）表达分子检测结果呈阳性患者的临床资料及治疗情况。
在连续 4765 例疑似甲状腺结节细胞学检查结果不确定的患者中，NGS 检测显示 20 例（0.42%）为甲状旁腺病变。15 例患者的临床资料可获取，其中 93%（14/15 例）患者的后续临床治疗方案发生改变，包括 5 例（33%）血钙正常的患者避免了不必要的手术。7 例患者在分子分析结果出来之前未怀疑原发性甲状旁腺功能亢进，其中 1 例（14%）被诊断为原发性甲状旁腺功能亢进。在甲状旁腺探查术中，大多数患者（6/8，75%）需要同时进行甲状腺切除术或叶切除术，但仍有 2 例患者可以保留甲状腺。89%的患者经组织学证实为甲状旁腺。
在 0.42%细胞学检查结果不确定的患者中，下一代分子检测结果将提示甲状旁腺病变的存在。当出现这种情况时，检测结果准确且能有力地影响临床治疗方案（93%）。
