Ma Lina, Wolkow Natalie, Jakobiec Frederick A
David G. Cogan Laboratory of Ophthalmic Pathology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA.
Ocul Oncol Pathol. 2019 Jan;5(1):66-74. doi: 10.1159/000487598. Epub 2018 Jun 27.
An enucleated globe was submitted from an outside hospital to the Ophthalmic Pathology Laboratory for evaluation. There was a minimal amount of accompanying clinical history. Histopathologic examination revealed a mucinous adenocarcinoma of the choroid. The determination of the origin of the tumor proved to be challenging based on the lack of a definitive systemic diagnosis. Initial suspicions that the tumor may represent a breast carcinoma were disproved when immunohistochemical biomarkers for breast carcinoma were negative. Similarly, typical markers of colon adenocarcinoma were not expressed. Positive immunostaining with a newer immunohistochemical marker, SATB2, and defects in DNA mismatch repair helped to confirm that the ocular metastasis was of colonic origin. Further clinical evaluation including imaging studies established that the patient had a primary colonic adenocarcinoma with widespread systemic metastases. The diagnostic utility and biologic significance of these latest immunohistochemical biomarkers for colon cancer are reviewed. Clinicians are encouraged to provide detailed clinical histories with the tissue specimens to enable the discovery of undetected "silent primaries" at the time an ocular metastasis develops and is discovered.
一个眼球摘除标本从外院送至眼科病理实验室进行评估。附带的临床病史信息极少。组织病理学检查显示为脉络膜黏液腺癌。由于缺乏明确的全身诊断,确定肿瘤的起源颇具挑战性。最初怀疑该肿瘤可能为乳腺癌,但当乳腺癌免疫组化生物标志物呈阴性时,这一怀疑被排除。同样,结肠腺癌的典型标志物也未表达。一种新型免疫组化标志物SATB2的阳性免疫染色以及DNA错配修复缺陷有助于证实眼部转移瘤起源于结肠。包括影像学检查在内的进一步临床评估确定该患者患有原发性结肠腺癌并伴有广泛的全身转移。本文回顾了这些最新的结肠癌免疫组化生物标志物的诊断效用及生物学意义。鼓励临床医生在送检组织标本时提供详细的临床病史,以便在眼部转移瘤发生并被发现时能够发现未被检测到的“隐匿性原发肿瘤”。