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琥珀酸脱氢酶B亚基(SDHB)转移性副神经节瘤患者成功分娩。

Successful delivery in the setting of SDHB metastatic paraganglioma.

作者信息

Majumder M, Gild M L, Robinson B G

机构信息

Department of Endocrinology and Diabetes, Royal North Shore Hospital, New South Wales, Sydney, Australia.

Cancer Genetics Laboratory, Kolling Institute of Medical Research, New South Wales, Sydney, Australia.

出版信息

Endocrinol Diabetes Metab Case Rep. 2024 Sep 27;2024(3). doi: 10.1530/EDM-24-0016. Print 2024 Jul 1.

Abstract

SUMMARY

Pregnancy in the setting of metastatic paraganglioma is challenging, particularly in the context of tyrosine kinase use. We describe a 26-year-old female with a background of metastatic paraganglioma harboring a pathogenic SDHB variant, requiring sunitinib, which was withheld to facilitate the safe conception and delivery of a healthy baby. She required no alpha- or beta-blockade during her pregnancy and exhibited no signs of tumor progression or symptoms throughout this period. Historically, higher rates of fetal and maternal morbidity and mortality have been experienced in the setting of pregnancy. Although limited data exist on the management of metastatic paraganglioma in pregnant patients, this case suggests that careful treatment modifications, such as temporary tyrosine kinase therapy cessation and vigilant monitoring, can result in successful pregnancies without compromising maternal or fetal well-being.

LEARNING POINTS

Paraganglioma in pregnancy has been associated with poor fetal and maternal morbidity and mortality. Many of the treatment modalities for metastatic paraganglioma, including tyrosine kinase inhibitors, can affect fertility or cannot be utilized in pregnancy, necessitating the temporary suspension of these treatments. This case exemplifies that careful clinical and biochemical monitoring during pregnancy is required to avoid maternal and fetal harm while balancing the risk of disease progression off treatment.

摘要

摘要

转移性副神经节瘤患者怀孕具有挑战性,尤其是在使用酪氨酸激酶的情况下。我们描述了一名26岁女性,有转移性副神经节瘤病史,携带致病性SDHB变异,需要使用舒尼替尼,为了安全受孕并分娩出健康婴儿而停用了该药物。她在怀孕期间未使用α或β受体阻滞剂,在此期间也没有出现肿瘤进展迹象或症状。从历史上看,怀孕情况下胎儿和母亲的发病率和死亡率较高。尽管关于怀孕患者转移性副神经节瘤管理的数据有限,但该病例表明,仔细调整治疗,如暂时停止酪氨酸激酶治疗并进行密切监测,可实现成功妊娠,且不损害母婴健康。

学习要点

怀孕合并副神经节瘤与胎儿和母亲的高发病率及死亡率相关。转移性副神经节瘤的许多治疗方式,包括酪氨酸激酶抑制剂,可能影响生育能力或无法在孕期使用,因此需要暂时停用这些治疗。该病例表明,孕期需要仔细进行临床和生化监测,以避免母婴受到伤害,同时平衡停止治疗后疾病进展的风险。

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