Gestational trophoblastic neoplasia with extrauterine metastasis but lacked uterine primary lesions: a single center experience and literature review

Abstract

Background To investigate the clinicopathological characteristics, diagnoses, treatments, and outcomes of a special type of gestational trophoblastic neoplasia (GTN) which only has extrauterine metastases without uterine primary lesions. Methods The medical records and pathological sections of the patients who were pathologically diagnosed as GTN, only had extrauterine metastatic lesions but lacked uterine primary lesions, in Women’s Hospital of Zhejiang University School of Medicine from February 2014 to March 2021 were collected and reviewed. Results Thirteen patients with pathologically confirmed GTN presenting with extrauterine metastases from a missing primary site were included in the past 7 years. The median age was 31.2 years old. 76.9% of patients had a non-hydatidiform pregnancy last time. The intervals between the antecedent pregnancy were > 12 months in 61.5% of patients. Pretreatment serum human chorionic gonadotropin(hCG) levels ranged from 118.7 to 807,270 IU/L. Six patients were misdiagnosed as ectopic pregnancy at initial diagnosis, and 4 as primary tumors at metastatic sites. All of them were diagnosed definitely by surgical pathology including 8 choriocarcinomas (CC), 4 epithelioid trophoblastic tumors (ETTs), and 1 mixed GTN (CC mixed with ETT). All patients achieved complete remission (CR) after treatments. Three patients relapsed; no patient died by the end of follow-up. Conclusion GTN presenting with extrauterine metastases from a missing primary site is easily misdiagnosed. Detection of serum hCG in these patients can reduce misdiagnosis. Chemotherapy combined with individualized surgery should be considered for these special GTN patients. Immune checkpoint inhibitors might be potential remedial measures for refractory and recurrent patients.

A Case Series of Gestational Choriocarcinoma with Review of Literature

“…Pembrolizumab (anti-PD-L1) has effectively induced complete responses in 75 to 80% of unresectable, chemo-resistant GTN, including cases that had failed high dose chemotherapy. 4 In a case series of six cases, patients displayed a variety of unusual clinical manifestation including suspected pulmonary tuberculosis, lung mass, pneumonia, heavy vaginal bleeding, pelvic mass, and peritonitis that highlighted the importance of having a high degree of clinical suspicion of choriocarcinoma in women of reproductive age. 10 All their cases were with scores of 8 to 12, EMACO therapy and selective hysterectomy proved to be beneficial.…”

“…9 Recurrence rate of conventional low-risk GTN is 1.6 to 3.1% and high-risk is 6.9%. 4 Even in cases of recurrence, a good cure rate has been observed with the use of etoposide and platinum drugs, combined with surgical excision of drug-resistant lesions and radiation therapy. For patients failing to respond to regular EMACO regimen, multiple salvage therapies are also available.…”

“…4 Most common site of metastasis is lung, followed by vagina, brain, liver, and intestines. 4 Early diagnosis of gestational choriocarcinoma is crucial as it is highly chemosensitive and has an excellent prognosis, even in advanced stages. 3 This case series demonstrates different scenarios of choriocarcinoma.…”

Exploring the real cause of hemoptysis: A case of pulmonary tumor embolism in a young woman with accompanying pulmonary metastasis of gestational trophoblastic neoplasia

“…4 The previous study has shown that hemorrhagic necrotic metastases in one or more organs are the typical manifestation of metastatic GTN, among which the most common site is the lung (83.3%). 5 GTN could also metastasize to pulmonary arteries and cause pulmonary tumor embolism by hematogenous spreading. 6,7 By summarizing 30 similar previously reported cases, we found that 80% of cases were choriocarcinoma, 8 66.7% presented only respiratory symptoms, 9 and 36.7% manifested as hemoptysis.…”

“…The previous study has shown that hemorrhagic necrotic metastases in one or more organs are the typical manifestation of metastatic GTN, among which the most common site is the lung (83.3%) 5 . GTN could also metastasize to pulmonary arteries and cause pulmonary tumor embolism by hematogenous spreading 6,7 .…”