Department of Neurosurgery, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.
Department of Neurosurgery, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.
World Neurosurg. 2019 Dec;132:219-222. doi: 10.1016/j.wneu.2019.08.180. Epub 2019 Sep 3.
Lynch syndrome (LS) is a cancer-predisposing condition resulting from germline mutations in deoxyribonucleic acid mismatch repair genes. Patients are at high risk for a multitude of tumors, but no reports of undifferentiated sellar carcinomas have previously been described.
A 56-year-old female with LS due to MSH2 and MSH6 mutations presented with panhypopituitarism and a sellar mass. She was initially diagnosed with pituitary apoplexy and treated nonoperatively. The mass self-resolved. The mass recurred 2 years later, and she underwent endoscopic endonasal biopsy demonstrating an undifferentiated carcinoma of the sella with MSH2 and MSH6 loss. The tumor was negative for pituitary markers and weakly positive for p63. The patient further developed lung and bone metastases and was treated with radiation and chemotherapy.
This is the first report of an undifferentiated carcinoma of the sella. Our patient harbored a diagnosis of LS and demonstrated local tumor recurrence and aggressive systemic progression. Patients with LS should undergo close follow-up and active surveillance to detect and treat these aggressive lesions in a timely manner.
林奇综合征（LS）是一种由脱氧核糖核酸错配修复基因突变引起的癌症易感疾病。患者存在多种肿瘤的高风险，但此前尚未有报道描述未分化的鞍区腺癌。
一名 56 岁女性因 MSH2 和 MSH6 突变导致 LS，表现为全垂体功能减退和鞍区肿块。她最初被诊断为垂体卒中，并接受了非手术治疗。肿块自行消退。两年后肿块再次复发，她接受了内镜经鼻蝶窦活检，显示鞍区未分化癌，伴有 MSH2 和 MSH6 缺失。肿瘤对垂体标志物阴性，p63 弱阳性。患者进一步发展为肺和骨转移，并接受了放疗和化疗。
这是首例报告的鞍区未分化癌。我们的患者患有 LS，并表现为局部肿瘤复发和侵袭性全身进展。LS 患者应接受密切随访和主动监测，以便及时发现和治疗这些侵袭性病变。
