Department of Pathology and Laboratory Medicine, Miller School of Medicine, University of Miami, Miami, FL.
Am J Surg Pathol. 2024 May 1;48(5):546-550. doi: 10.1097/PAS.0000000000002193. Epub 2024 Feb 15.
Trichorhinophalangeal syndrome type 1 (TRPS1) is a new reportedly sensitive and specific immunohistochemical marker for carcinomas of breast origin, including triple-negative (estrogen receptor, progesterone receptor, and HER2) tumors. In our practice, we have observed a subset of cases of nonmammary carcinomas that are positive for TRPS1, with higher frequency in cytology effusion samples with metastatic gynecologic malignancies. This study aimed to evaluate the expression of TRPS1 in a large tissue cohort of Müllerian carcinomas. We retrospectively retrieved 105 cases of formalin-fixed paraffin-embedded gynecologic tumors from our surgical pathology archives. Cases corresponded to tumors of tubo-ovarian (17 high-grade serous carcinomas, 3 low-grade serous carcinomas, 2 clear cell carcinomas, and 8 endometrioid adenocarcinomas), endometrial (25 endometrioid adenocarcinomas, 8 serous carcinomas, 6 clear cell carcinomas, 12 carcinosarcomas, 1 dedifferentiated carcinoma, and 1 mesonephric-like adenocarcinoma), cervical (6 human papillomavirus [HPV]-associated squamous cell carcinomas [SCCs], 11 HPV-associated endocervical adenocarcinomas, and 2 HPV-independent gastric-type endocervical adenocarcinomas), and vulvar (2 HPV-independent SCCs and 1 HPV-associated SCC) origins. Immunohistochemistry for TRPS1 was performed in whole tissue sections and assessed for positivity (≥5% of nuclear labeling), distribution (focal: 5% to 49%, diffuse: 50% to 100%), and intensity (1+, 2+, 3+) in tumor cells. Positive TRPS1 staining was observed in 51.4% (54/105) of cases. Most tumors (64.8%) demonstrated diffuse labeling, while focal in 35.2%. Among positive cases, the intensity was predominantly 1+ (57.4%), followed by 2+ (33.3%) and 3+ (9.2%). Tumors with a high percentage of positivity overall consisted of tubo-ovarian (70%) and endometrial carcinomas (58.4%). TRPS1 immunostain is often expressed in gynecologic carcinomas. Awareness of this phenomenon is crucial when evaluating challenging cases in which the differential diagnosis includes a malignancy of breast origin, to avoid misclassification of the primary site.
第一型 Trichorhinophalangeal 综合征（TRPS1）是一种新的据称对乳腺癌来源的癌，包括三阴性（雌激素受体、孕激素受体和 HER2）肿瘤具有高度敏感和特异性的免疫组织化学标志物。在我们的实践中，我们观察到一组非乳腺癌病例对 TRPS1 呈阳性，在具有转移性妇科恶性肿瘤的细胞学渗出液样本中更为常见。本研究旨在评估 TRPS1 在大量 Müllerian 癌组织队列中的表达。我们从外科病理学档案中回顾性地检索了 105 例福尔马林固定石蜡包埋的妇科肿瘤病例。这些病例对应于 tubo-ovarian（17 例高级别浆液性癌、3 例低级别浆液性癌、2 例透明细胞癌和 8 例子宫内膜样腺癌）、子宫内膜（25 例子宫内膜样腺癌、8 例浆液性癌、6 例透明细胞癌、12 例癌肉瘤、1 例去分化癌和 1 例中肾样腺癌）、宫颈（6 例 HPV 相关的鳞状细胞癌[SCC]、11 例 HPV 相关的宫颈内膜腺癌和 2 例 HPV 无关的胃型宫颈内膜腺癌）和外阴（2 例 HPV 无关的 SCC 和 1 例 HPV 相关的 SCC）起源。对 TRPS1 进行了全组织切片的免疫组织化学染色，并评估了阳性（≥5%的核标记）、分布（局灶性：5%至 49%、弥漫性：50%至 100%）和肿瘤细胞强度（1+、2+、3+）。在 51.4%（54/105）的病例中观察到阳性 TRPS1 染色。大多数肿瘤（64.8%）表现为弥漫性标记，而 35.2%为局灶性。在阳性病例中，强度主要为 1+（57.4%），其次为 2+（33.3%）和 3+（9.2%）。总体上具有高阳性率的肿瘤包括 tubo-ovarian（70%）和子宫内膜癌（58.4%）。TRPS1 免疫染色在妇科癌中经常表达。在评估包括乳腺癌起源的恶性肿瘤的鉴别诊断时，当遇到具有挑战性的病例时，意识到这种现象至关重要，以避免对原发部位的错误分类。
