Zeitler Cornelia, Fuderer Lena, Schmitz Katja, Arora Rohit, Dammerer Dietmar
Department of Orthopedic Surgery and Traumatology, Medical University of Innsbruck, Innsbruck, Austria;
Department of Orthopedic Surgery and Traumatology, Medical University of Innsbruck, Innsbruck, Austria.
Anticancer Res. 2022 Sep;42(9):4647-4656. doi: 10.21873/anticanres.15969.
BACKGROUND/AIM: Pheochromocytomas (PHEOs) are a rare entity in the common population but have higher prevalence in neurofibromatosis type I (NFI) patients. In combination with pregnancy there are several reports on perioperative complications due to endocrine tumor activity; however, case reports on the malignant course of the disease could not be identified.
We report the case of a pregnant female patient with diagnosed NF1, who was referred to our hospital with metastatic PHEO. Because of worsening state, emergency cesarian section was performed at 33 weeks gestation and the patient required CPR and avECMO. Diagnostic workup showed a tumor of the right adrenal gland infiltrating the liver continuously, as well as the right kidney and vena cava inferior, and multiple disseminated bone metastases.
As NF1 patients seem to have a significantly higher risk for PHEO, routine testing before or during pregnancy needs to be discussed, as perioperative adverse events due to endocrine activity are common. In case of malignant PHEO, guidelines for surgical management of metastasis are still missing. As our case shows however, interdisciplinary management and constant readaptation of therapy regimen according to disease progress are important.
背景/目的：嗜铬细胞瘤（PHEO）在普通人群中较为罕见，但在Ⅰ型神经纤维瘤病（NFI）患者中患病率较高。关于妊娠合并嗜铬细胞瘤，有几篇关于内分泌肿瘤活动导致围手术期并发症的报道；然而，尚未发现有关该疾病恶性病程的病例报告。
我们报告一例诊断为NF1的妊娠女性患者，因转移性嗜铬细胞瘤转诊至我院。由于病情恶化，在妊娠33周时进行了急诊剖宫产，患者需要心肺复苏和体外膜肺氧合（avECMO）。诊断检查显示右肾上腺肿瘤持续浸润肝脏、右肾和下腔静脉，并伴有多发骨转移。
由于NF1患者患嗜铬细胞瘤的风险似乎显著更高，因此需要讨论在妊娠前或妊娠期间进行常规检查，因为内分泌活动导致的围手术期不良事件很常见。对于恶性嗜铬细胞瘤，目前仍缺乏转移灶手术管理的指南。然而，正如我们的病例所示，多学科管理以及根据疾病进展不断调整治疗方案非常重要。
