Department of Otolaryngology-Head and Neck Surgery, Na Homolce Hospital, Prague, Czech Republic.
Ear, Nose, and Throat Department, Faculty of Medicine in Pilsen, Charles University in Prague, Czech Republic.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2023 Mar;167(1):61-68. doi: 10.5507/bp.2021.045. Epub 2021 Jul 20.
The latest WHO classification of tumours of endocrine organs defines new units of borderline thyroid tumours (BTT). The aim of our study was to evaluate ultrasonographic and cytological features, mutation profile and surgery treatment in rare thyroid tumours.
An analysis of 8 BTT out of 487 patients, who underwent thyroid surgery between June 2016 and June 2020. The definitive diagnosis was made postoperatively by extensive histopathological examination. Molecular genetic analysis of genes associated with thyroid oncology (BRAF, HRAS, KRAS, NRAS, TERT, TP53, fused genes) were performed from one FNAB, and 7 formalin-fixed paraffin-embedded (FFPE) samples.
BTT were found in a total of 8 patients (1.6%), with a predominance of men with respect to other operated patients. FNAB samples were classified in the Bethesda system as Bethesda I, Bethesda II and Bethesda III in one, four and three cases, respectively. Hemithyroidectomy and total thyroidectomy were performed equally in four patients. The histopathological diagnosis revealed non-invasive encapsulated follicular neoplasm with papillary-like nuclear features (NIFTP) in three patients, follicular tumour of uncertain malignant potential (FT-UMP) in three patients, well differentiated tumour of uncertain malignant potential (WDT-UMP) in one patient, and hyalinizing trabecular tumour (HTT) in one case. In NIFTP cases mutation in HRAS gene in one patient together with probable pathogenic variant in TP53 gene and in NRAS gene in two patients were detected. In HTT patient PAX8/GLIS3 fusion gene was detected.
The surgical treatment of BTT is necessarily individual influenced by preoperative clinical, ultrasonographic, cytological and molecular genetic findings, and the presence of other comorbidities.
世界卫生组织(WHO)最新版内分泌器官肿瘤分类定义了新的甲状腺交界性肿瘤(BTT)单元。本研究旨在评估罕见甲状腺肿瘤的超声和细胞学特征、突变谱及手术治疗。
分析了 2016 年 6 月至 2020 年 6 月期间在我院接受甲状腺手术的 487 例患者中的 8 例 BTT。通过广泛的组织病理学检查确定了最终诊断。从 1 例细针穿刺活检(FNAB)和 7 例福尔马林固定石蜡包埋(FFPE)样本中进行了与甲状腺肿瘤相关的基因(BRAF、HRAS、KRAS、NRAS、TERT、TP53、融合基因)的分子遗传学分析。
总共发现 8 例(1.6%)BTT,其中男性患者多于其他手术患者。FNAB 样本按 Bethesda 系统分类,1 例为 Bethesda I 级,4 例为 Bethesda II 级,3 例为 Bethesda III 级。4 例患者中分别进行了半甲状腺切除术和全甲状腺切除术。组织病理学诊断显示 3 例为非浸润性包膜滤泡状肿瘤伴乳头状核特征(NIFTP),3 例为滤泡性肿瘤具有不确定恶性潜能(FT-UMP),1 例为低级别肿瘤具有不确定恶性潜能(WDT-UMP),1 例为玻璃样小梁肿瘤(HTT)。在 NIFTP 病例中,1 例患者的 HRAS 基因突变,2 例患者的 TP53 基因突变和 NRAS 基因突变可能为致病性变异。在 HTT 患者中检测到 PAX8/GLIS3 融合基因。
BTT 的手术治疗必然受到术前临床、超声、细胞学和分子遗传学表现以及其他合并症的影响。