Cameselle-Teijeiro José, Menasce Lia P, Yap Beng K, Colaco Rovel J, Castro Patricia, Celestino Ricardo, Ruíz-Ponte Clara, Soares Paula, Sobrinho-Simões Manuel
Department of Pathology, Clinical University Hospital, Galician Health Service, University of Santiago de Compostela, Santiago de Compostela, Spain.
Am J Clin Pathol. 2009 Jan;131(1):134-42. doi: 10.1309/AJCP7ULS0VSISBEB.
We describe an especially aggressive case of cribriform-morular variant (C-MV) of papillary thyroid carcinoma (PTC) in a 42-year-old man with familial adenomatous polyposis who died with lung and brain metastases 17 months after thyroidectomy. The angioinvasive neoplasm combined a mixture of trabecular, solid, cribriform, and follicular patterns of growth with CD10+ morules. Follicles were devoid of colloid, and the nuclear features typical of PTC were present in some areas and missing in others. Tumor cells were positive for thyroid transcription factor-1 and, in 40% of the tumoral mass, also were positive for chromogranin and synaptophysin and were negative for thyroglobulin and calcitonin. Strong nuclear staining for beta-catenin was found in all tumor cells, as was positivity for p53 and cyclin D1. In addition to the germline heterozygous APC Ex 2-3 duplication mutation, a somatic homozygous silent p. Thr1493Thr gene variant was found in the neoplastic cells along with RET/PTC rearrangement. This tumor represents the first case of C-MV of PTC showing neuroendocrine differentiation.
我们描述了一例42岁患有家族性腺瘤性息肉病的男性患者，其乳头状甲状腺癌（PTC）筛状桑葚状变异型（C-MV）极具侵袭性，在甲状腺切除术后17个月因肺和脑转移而死亡。该血管侵袭性肿瘤结合了小梁状、实性、筛状和滤泡状生长模式，并伴有CD10阳性桑葚体。滤泡内无胶质，PTC典型的核特征在某些区域存在而在其他区域缺失。肿瘤细胞甲状腺转录因子-1呈阳性，在40%的肿瘤组织中，嗜铬粒蛋白和突触素也呈阳性，而甲状腺球蛋白和降钙素呈阴性。在所有肿瘤细胞中均发现β-连环蛋白强核染色，p53和细胞周期蛋白D1也呈阳性。除了种系杂合性APC外显子2-3重复突变外，在肿瘤细胞中还发现了体细胞纯合沉默的p.Thr1493Thr基因变异以及RET/PTC重排。该肿瘤代表了首例显示神经内分泌分化的PTC的C-MV病例。
