Bhargava Rohit, Florea Anca V, Pelmus Manuela, Jones Miroslawa W, Bonaventura Marguerite, Wald Abigail, Nikiforova Marina
From the Magee-Womens Hospital of University of Pittsburgh Medical Center, Pittsburgh, PA.
McGill University, Montreal, Canada.
Am J Clin Pathol. 2017 Apr 1;147(4):399-410. doi: 10.1093/ajcp/aqx016.
Breast tumor resembling tall cell variant of papillary thyroid carcinoma (BTRPTC) is a rare breast lesion that is unrelated to thyroid carcinoma. Morphologically, it shows a solid papillary lesion with bland cytology, eosinophilic/amphophilic secretions, nuclear grooves, reversal of nuclear polarity (recently described), and nuclear inclusions. Clinical course is often uneventful with few exceptions reported in the literature. Herein, we report three additional cases.
Immunohistochemical staining and next-generation sequencing was performed on all three cases.
The lesional cells on all cases were positive for cytokeratin 5 and S100, with weak expression/lack of estrogen receptor. No staining was observed for myoepithelial markers (p63 and myosin heavy chain) around the lesion. IDH2 mutations were identified in two cases at nucleotide 172 (cases 1 and 3). ATM gene mutation was identified in cases 2 and 3 and PIK3CA mutation in case 3. All patients are currently without disease.
BTRPTC is a slow-growing neoplastic lesion that needs to be distinguished from other papillary lesions for optimizing therapy.
乳腺肿瘤样甲状腺乳头状癌高细胞变体（BTRPTC）是一种罕见的乳腺病变，与甲状腺癌无关。形态学上，它表现为实性乳头状病变，细胞形态温和，有嗜酸性/双嗜性分泌物、核沟、核极性反转（最近报道）和核内包涵体。临床过程通常平稳，文献中报道的例外情况很少。在此，我们报告另外三例病例。
对所有三例病例进行免疫组织化学染色和二代测序。
所有病例的病变细胞细胞角蛋白5和S100均呈阳性，雌激素受体表达弱/缺乏。病变周围未观察到肌上皮标志物（p63和肌球蛋白重链）的染色。在两例病例（病例1和3）的第172位核苷酸处鉴定出IDH2突变。病例2和3中鉴定出ATM基因突变，病例3中鉴定出PIK3CA突变。所有患者目前均无疾病。
BTRPTC是一种生长缓慢的肿瘤性病变，为优化治疗需要与其他乳头状病变相鉴别。
