Cameselle-Teijeiro José M, Rodríguez-Pérez Irene, Celestino Ricardo, Eloy Catarina, Piso-Neira Magalí, Abdulkader-Nallib Ihab, Soares Paula, Sobrinho-Simões Manuel
*Department of Anatomic Pathology, Clinical University Hospital, Servicio Gallego de Salud (SERGAS), Health Research Institute of Santiago de Compostela (IDIS) †Department of Anatomic Pathology, Medical Faculty, University of Santiago de Compostela, Santiago de Compostela ‡Department of Anatomic Pathology, Hospital HM Puerta del Sur, Móstoles, Madrid, Spain §Institute of Research and Innovation in Health (i3S), University of Porto ∥Institute of Molecular Pathology and Immunology of the University of Porto ¶Medical Faculty, University of Porto #Department of Pathology, Hospital de S. João, Porto, Portugal.
Am J Surg Pathol. 2017 Jun;41(6):854-860. doi: 10.1097/PAS.0000000000000793.
The hobnail variant (HV) of papillary thyroid carcinoma (PTC) is an unusual entity recently proposed as an aggressive variant of PTC. We describe the pathologic and molecular features of 2 cases of HV of PTC. Both tumors presented in stage III (pT3 pN1a M0). The first case was diagnosed in a 62-year-old man, whereas the second was in a 53-year-old woman. Both patients were treated with total thyroidectomy and radioactive iodine. The primary tumors showed a hobnail/micropapillary pattern in ≥50% of the neoplasm, and positivity for TTF-1, TTF-2, thyroglobulin (TG), cyclin D1, and p53. The Ki-67 index was 4.6% and 5%, respectively. In case 1, the tumor disclosed BRAFV600E and TERT C228T (124:G>A) promoter gene mutation, negativity for NRAS, HRAS, and KRAS mutations, and negativity for RET/PTC1, RET/PTC3, and PAX8/PPARγ rearrangements. After 11 years the patient died with cervical lymph node, bone, and liver metastases. In the liver metastasis, the tumor displayed columnar cell PTC areas (positive for TTF-1, TG, and BRAFV600E) merging with undifferentiated carcinoma (UC) areas (positive for TTF-1 and BRAFV600E; negative for TG). In case 2, the patient died 6 years after treatment with local recurrence and disseminated metastases to the lung, pleura, bone, and liver. The tumor recurrence showed a UC component (positive for cyclin D1 and p53; negative for TTF-1 and TG) with a residual HV of PTC (positive for cyclin D1, p53, TTF-1, and TG). No BRAF, TERT, NRAS, HRAS, nor KRAS mutations were detected in the primary tumor or recurrence in case 2. Our findings suggest that p53-positive HV is a very aggressive form of PTC prone to progression to UC.
甲状腺乳头状癌(PTC)的鞋钉样变体(HV)是一种不常见的类型,最近被认为是PTC的侵袭性变体。我们描述了2例PTC的HV的病理和分子特征。两个肿瘤均为III期(pT3 pN1a M0)。第一例诊断于一名62岁男性,第二例诊断于一名53岁女性。两名患者均接受了甲状腺全切术和放射性碘治疗。原发性肿瘤在≥50%的肿瘤中呈现鞋钉样/微乳头样模式,且TTF-1、TTF-2、甲状腺球蛋白(TG)、细胞周期蛋白D1和p53呈阳性。Ki-67指数分别为4.6%和5%。在病例1中,肿瘤检测到BRAFV600E和TERT C228T(124:G>A)启动子基因突变,NRAS、HRAS和KRAS突变均为阴性,RET/PTC1、RET/PTC3和PAX8/PPARγ重排均为阴性。11年后,该患者死于颈部淋巴结、骨和肝转移。在肝转移灶中,肿瘤显示柱状细胞PTC区域(TTF-1、TG和BRAFV600E阳性)与未分化癌(UC)区域融合(TTF-1和BRAFV600E阳性;TG阴性)。在病例2中,患者在治疗6年后死于局部复发及肺、胸膜、骨和肝的播散性转移。肿瘤复发显示为UC成分(细胞周期蛋白D1和p53阳性;TTF-1和TG阴性),残留有PTC的HV(细胞周期蛋白D1、p53、TTF-1和TG阳性)。在病例2的原发性肿瘤或复发灶中未检测到BRAF、TERT、NRAS、HRAS和KRAS突变。我们的研究结果表明,p53阳性的HV是一种非常侵袭性的PTC形式,易于进展为UC。