Department of Experimental Medicine, Heatherwood and Wexham Park Hospitals NHS Trust, Berkshire, UK.
Int J Gynecol Pathol. 2010 Jan;29(1):27-32. doi: 10.1097/PGP.0b013e3181b6a7c2.
We report a case of a 54-year-old Caucasian woman with an earlier diagnosis of Peutz-Jeghers Syndrome (PJS) and sex cord tumor with annular tubules (SCTAT). The sex cord stromal tumors showed aggressive malignant behavior with repeated recurrence and metastasis. This is an unusual behavior of SCTAT in patients with PJS, with only 2 such cases reported earlier. Genetic analysis revealed that the patient has a new (unreported earlier) missense mutation of the LKB1 gene. A review of the literature reporting the clinicopathologic features and biologic behavior of SCTAT in patients with and without PJS is presented. We discuss the presentation and management of this case and highlight the importance of considering the possibility of aggressive behavior of these tumors in the management of patients with PJS.
我们报告了一例 54 岁的白种女性病例，该患者先前被诊断为 Peutz-Jeghers 综合征（PJS）和伴有环状小管的性索肿瘤（SCTAT）。性索间质肿瘤表现出侵袭性恶性行为，反复复发和转移。这是 PJS 患者 SCTAT 的一种异常行为，此前仅报告过 2 例。基因分析显示，患者 LKB1 基因有一个新的（先前未报道过）错义突变。本文回顾了文献中报告的 PJS 患者和非 PJS 患者的 SCTAT 的临床病理特征和生物学行为。我们讨论了该病例的表现和管理，并强调了在 PJS 患者的管理中考虑这些肿瘤侵袭性行为的重要性。
