Kwon Hee Jung, Oh Mijung, Han Joungho, Song Sang Yong, Kim Hyun-Soo
Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Gangnam-gu, Seoul, Republic of Korea.
Department of Pathology, Yeungnam University College of Medicine, Daegu, Republic of Korea.
Int J Surg Pathol. 2021 Dec;29(8):864-869. doi: 10.1177/10668969211006194. Epub 2021 Mar 25.
Patterns of p53 immunostaining are used as a surrogate marker for tumor protein 53 () mutations in the diagnosis of ovarian high-grade serous carcinoma (HGSC). We present a rare case of ovarian HGSC that metastasized to the diaphragm and cardiophrenic lymph nodes and showed the immunostaining pattern of wild-type p53 and aberrant neural cell adhesion molecule (CD56) expression. A 63-year-old woman developed multifocal metastases in the diaphragmatic pleura and cardiophrenic lymph nodes. Because she had a history of ovarian HGSC and pulmonary adenocarcinoma, we considered the possibility that the metastatic carcinoma was of either ovarian or pulmonary origin. Immunostaining revealed that the tumor cells were negative for thyroid transcription factor 1 but positive for Wilms tumor 1. The tumor additionally exhibited strong membranous CD56 expression and patchy p53 expression, both of which were inconsistent with the characteristics of ovarian HGSC. However, targeted sequencing analysis revealed that the tumor harbored a pathogenic mutation at the splice acceptor site of intron 9 (c.994-1G>C).
在卵巢高级别浆液性癌（HGSC）的诊断中，p53免疫染色模式被用作肿瘤蛋白53（）突变的替代标志物。我们报告了一例罕见的卵巢HGSC病例，该病例转移至膈肌和心膈淋巴结，并表现出野生型p53免疫染色模式和异常的神经细胞黏附分子（CD56）表达。一名63岁女性在膈胸膜和心膈淋巴结出现多灶性转移。由于她有卵巢HGSC和肺腺癌病史，我们考虑转移癌可能起源于卵巢或肺。免疫染色显示肿瘤细胞甲状腺转录因子1阴性，但威尔姆斯瘤1阳性。肿瘤还表现出强烈的膜性CD56表达和散在的p53表达，这两者均与卵巢HGSC的特征不符。然而，靶向测序分析显示肿瘤在第9内含子的剪接受体位点存在致病性突变（c.994-1G>C）。
