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因子V莱顿突变引发睾丸精原细胞瘤标准剂量顺铂化疗的四大并发症:一例报告

Factor V Leiden mutation triggering four major complications to standard dose cisplatin-chemotherapy for testicular seminoma: a case report.

作者信息

Dieckmann Klaus-Peter, Anheuser Petra, Gehrckens Ralf, Aries Sven Philip, Ikogho Raphael, Hollburg Wiebke

机构信息

Albertinen-Krankenhaus, Department of Urology, Suentelstrasse 11a, D-22457, Hamburg, Germany.

Albertinen-Krankenhaus, Department of Diagnostic Radiology, Hamburg, Germany.

出版信息

BMC Urol. 2015 Mar 17;15:21. doi: 10.1186/s12894-015-0011-z.

Abstract

BACKGROUND

Major life-threatening complications secondary to cisplatin-based chemotherapy are rare in patients with testicular germ cell tumour (GCT). The incidence of complications increases with dosage of chemotherapy and with a variety of patient-related as well as disease-related conditions. We here report the first case of GCT experiencing as many as four major complications most of which can be explained by the conjunction of several predispositions.

CASE PRESENTATION

A 48 year old patient with testicular seminoma and bulky retroperitoneal and mediastinal metastases underwent cisplatin based chemotherapy. During the third cycle of chemotherapy, he developed thrombosis of the central venous port device, subtotal splenic infarction, and Bleomycin induced pneumonitis (BIP). Three months after completion of therapy, he was struck by thalamic infarction. Genetic testing then revealed heterozygote mutation of Factor V Leiden (FVL). He received full-dose warfarin anticoagulation treatment and steroid treatment for BIP. 18 months thereafter, the patient is still disease-free, oncologically. Neurological symptoms have disappeared, but pulmonary dysfunction persists with a vital capacity of 50%.

CONCLUSION

The unique co-incidence of four major complications occurring in this patient were obviously triggered by the genetically determined predisposition of the patient to thrombotic events (FVL). Additionally, several patient-related and disease-related conditions contributed to the unique pattern of complications, i.e. (1) the slightly advanced age (48 years), (2) the prothrombotic condition caused by the disease of cancer, (3) the central venous port device, (4) retroperitoneal bulky metastasis, and (5) cisplatin chemotherapy. Whether or not FVL contributed to the pulmonary fibrosis as well, remains elusive. Practically, in the case of one major vascular complication during cisplatin chemotherapy at standard dose, genetic testing for hereditary thrombophilia should be considered. Thus, precautions for preventing further complications could be initiated.

摘要

背景

在睾丸生殖细胞肿瘤(GCT)患者中,顺铂化疗继发的严重危及生命的并发症很少见。并发症的发生率随化疗剂量以及多种与患者相关和与疾病相关的情况而增加。我们在此报告首例发生多达四种主要并发症的GCT病例,其中大多数并发症可由多种易患因素共同作用来解释。

病例介绍

一名48岁患有睾丸精原细胞瘤且伴有巨大腹膜后和纵隔转移的患者接受了基于顺铂的化疗。在化疗的第三个周期,他出现了中心静脉置管血栓形成、脾次全梗死以及博来霉素诱发的肺炎(BIP)。治疗完成三个月后,他发生了丘脑梗死。基因检测随后发现了因子V莱顿(FVL)杂合突变。他接受了全剂量华法林抗凝治疗以及针对BIP的类固醇治疗。18个月后,患者在肿瘤学上仍无疾病。神经症状已消失,但肺功能障碍持续存在,肺活量为50%。

结论

该患者出现的四种主要并发症的独特巧合显然是由患者遗传决定的血栓形成事件易患因素(FVL)引发的。此外,一些与患者相关和与疾病相关的情况促成了并发症的独特模式,即(1)年龄稍大(48岁),(2)癌症疾病导致的血栓前状态,(3)中心静脉置管,(4)腹膜后巨大转移,以及(5)顺铂化疗。FVL是否也导致了肺纤维化仍不清楚。实际上,在标准剂量顺铂化疗期间发生一次主要血管并发症的情况下,应考虑进行遗传性血栓形成倾向的基因检测。因此,可以启动预防进一步并发症的措施。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d5c2/4374368/28739701b5cd/12894_2015_11_Fig1_HTML.jpg

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