Impact of molecular genotyping on the diagnosis and treatment of human chorionic gonadotropin-producing tumors.

OBJECTIVES: To assess the use of molecular genotyping to accurately diagnose and treat human chorionic gonadotropin (hCG)-producing tumors and to evaluate the discriminating capacity of molecular testing on prognosis and overall survival. METHODS: We conducted a retrospective descriptive study of patients registered with the French Reference Center for Trophoblastic Disease between 1999 and 2021. We included all patients with hCG-producing tumors for whom results of molecular genotyping were available. RESULTS: Fifty-five patients with molecular genotyping were included: 81.2 % (n = 45) had tumors of gestational origin, 12.7 % (n = 7) of non-gestational origin and 5.5 % (n = 3) of undetermined origin. The results of molecular genotyping influenced the treatment decisions for 17 % of patients in this cohort. Overall survival was 93.3 % for patients with gestational tumors (after a median follow-up of 74 months) compared to 71.4 % for patients with non-gestational tumors (after a median follow-up of 23 months). CONCLUSION: In atypical presentations of hCG-producing tumors, molecular genotyping is a valuable tool to guide diagnosis and tailor treatment recommendations.

Gestational Trophoblastic Disease with Coexisting Progressing Pregnancy: Personalised Treatment Modalities.

Purpose: Gestational trophoblastic disease (GTD) coexisting with a steadily progressing pregnancy is an extremely rare condition presented in the literature as a single case or case series of successful delivery. The purpose of this study was to describe five cases of GTD and present possible management strategies for such patients. Methods: Clinical data of five pregnancies with coexisting GTD were identified within the Almazov National Medical Research Centre from 2018 to 2021. Results: Three cases of multiple pregnancies with complete hydatidiform moles and two cases of singleton pregnancies with intraplacental choriocarcinoma and invasive hydatidiform moles were identified. Three pregnancies were prolonged and ended with preterm deliveries. Malignant transformation of the GTD accounted for 60% of the cases. The condition of newborns was based on the level of prematurity and functional immaturity, and in all cases, it was aggravated by anemia. Conclusion: GTD coexisting with progressing pregnancy is threatened by the risks of preterm delivery, miscarriage, hemorrhage, and disease progression and requires monitoring in a multidisciplinary clinic experienced in the management of patients with malignant tumors during pregnancy. In cases of prolonged pregnancy against the background of GTD, we suggest the following monitoring during pregnancy: pelvic, abdominal ultrasound/MRI (without contrast), prenatal invasive fetal karyotype testing in cases of singleton pregnancy, lung X-ray/CT with uterine shielding, weekly assessment of ß-hCG levels, and dynamic monitoring of the fetus. The following postnatal monitoring should be performed: morphological examination of the placenta, weekly assessment of ß-hCG levels up to normalization, then monthly assessment up to six months, and control of ß-hCG level of the newborn.

Progress of immunotherapies in gestational trophoblastic neoplasms.

BACKGROUND: Different from other malignant gynecologic tumors, gestational trophoblastic neoplasms (GTNs) exhibit an exceptionally high cure rate primarily through chemotherapeutic interventions. However, there exists a small subset of refractory GTNs that do not respond to conventional chemotherapies. In such cases, the emergence of immunotherapies has demonstrated significant benefits in managing various challenging GTNs. PURPOSE: This article aims to provide a comprehensive and systematic review of the immune microenvironment and immunotherapeutic approaches for GTNs. The purpose is to identify potential biomarkers that could enhance disease management and summarize the available immunotherapies for ease of reference. METHODS: We reviewed the relevant literatures toward immunotherapies of GTNs from PubMed. CONCLUSION: Current immunotherapeutic strategies for GTNs mainly revolve around immune checkpoint inhibitors (ICIs) targeting programmed death receptor 1 (PD-1) and programmed cell death ligand 1 (PD-L1). Prominent examples include avelumab, pembrolizumab, and camrelizumab. However, existing researches into the underlying mechanisms are still limited.

Management of trophoblastic tumors : review of evidence, current practice, and future directions.

INTRODUCTION: Gestational trophoblastic neoplasia (GTN) is a group of rare tumors characterized by abnormal trophoblastic proliferation following pregnancy including invasive moles, choriocarcinomas, and intermediate trophoblastic tumors (ITT). Although the treatment and follow-up of GTN has been heterogeneous, globally the emergence of expert networks has helped to harmonize its management. AREAS COVERED: We provide an overview of the current knowledge, diagnosis, and management strategies in GTN and discuss innovative therapeutic options under investigation. While chemotherapy has been the historical backbone of GTN treatment, promising drugs such as immune checkpoint inhibitors targeting the PD-1/PD-L1 pathway and anti-angiogenic tyrosine kinase inhibitors are currently being investigated remodeling the therapeutical landscape of trophoblastic tumors. EXPERT OPINION: Chemotherapy regimens for GTN have potential long-term effects on fertility and quality of life, making innovative and less toxic therapeutic approaches necessary. Immune checkpoint inhibitors have shown promise in reversing immune tolerance in GTN and have been evaluated in several trials. However, immunotherapy is associated with rare but life-threatening adverse events and evidence of immune-related infertility in mice, highlighting the need for further research and careful consideration of its use. Innovative biomarkers could help personalize GTN treatments and reduce chemotherapy burden in some patients.

Challenging gestational trophoblastic disease cases and mimics: An exemplar for the management of rare tumours.

OBJECTIVE: Rare tumour management is challenging for clinicians as evidence bases are limited and clinical trials are difficult to conduct. It is even more difficult for patients where self-reliance alone is insufficient to overcome the challenges of navigating care which is often poorly evidence based. In Ireland, a national Gestational Trophoblastic Disease (GTD) service was established as one of 3 initiatives for rare tumours by the National Cancer Control Programme. The service has a national clinical lead, a dedicated supportive nursing service and a clinical biochemistry liaison team. This study sought to assess the impact of a GTD centre using national clinical guidelines and integrating and networking with European and International GTD groups on the clinical management of challenging GTD cases and to consider the application of this model of care to other rare tumour management. STUDY DESIGN: In this article, we analyse the impact of a national GTD service on five challenging cases, and review how the service affects patient management in this rare tumour type. These cases were selected from a cohort of patients who were voluntarily registered in the service based on the diagnostic management dilemma they posed. RESULTS: Case management was impacted by the identification of GTD mimics, the provision of lifesaving treatment of metastatic choriocarcinoma with brain metastasis, networking with international colleagues, the identification of early relapse, the use of genetics to differentiate treatment pathways and prognosis, and supportive supervision of treatment courses of up to 2 years of therapy in a cohort of patients starting or completing families. CONCLUSION: The National GTD service could be an exemplar for the management of rare tumours (such as cholangiocarcinoma) in our jurisdiction which could benefit from a similar constellation of supports. Our study demonstrates the importance of a nominated national clinical lead, dedicated nurse navigator support, registration of cases and networking. The impact of our service would be greater if registration was mandatory rather than voluntary. Such a measure would also ensure equity of access for patients to the service, assist in quantifying the need for resourcing and facilitate research to improve outcomes.

Leptomeningeal disease as a presenting feature of gestational trophoblastic neoplasia: A review and recommendations for management.

OBJECTIVES: Gestational Trophoblastic Neoplasia (GTN) is a rare group of malignant placental-related tumours requiring systemic anti-cancer treatment. Leptomeningeal disease (LMD) related to GTN is not well reported with no consensus in optimal treatment. We offer recommendations for management of these patients. METHODS: We discuss five patients with GTN who presented with features of LMD and were diagnosed with gadolinium-enhanced MRI brain, all of whom received low dose induction etoposide-cisplatin (EP) followed by either EP-etoposide, methotrexate (CNS) and actinomycin-D (EMA) or EMA(CNS)-cyclophosphamide and vincristine (CO). RESULTS: Four out of the five patients additionally received intrathecal methotrexate. Four patients had complete hCG response to first line multi-agent chemotherapy, one patient required second line paclitaxel, cisplatin alternating with paclitaxel, etoposide (TP/TE), where paclitaxel was substituted with nab-paclitaxel due to anaphylaxis, followed by hysterectomy. One of the four initial complete hCG responders relapsed in the lung requiring further systemic treatment with subsequent lobectomy. Patient reported outcomes indicate persistent neurological symptoms are mild and do not affect functionality and quality of life. CONCLUSION: With a follow-up range of 2-6 years, all five patients remain cured demonstrating excellent survival outcomes with the avoidance of whole-brain radiotherapy in all cases.

Gestational trophoblastic disease: an update.

Gestational trophoblastic diseases (GTD) encompass a spectrum of rare pre-malignant and malignant entities originating from trophoblastic tissue. This updated review will highlight important radiological features, pathology and classification, and provide insight into the clinical management of these uncommon disorders. There is a wide geographic variation with the incidence of hydatidiform mole varying between 0.57 and 2 per 1000 pregnancies. The use of ultrasound (US) in the management of early pregnancy symptoms and complications has positively impacted the earlier detection of these diseases and resulted in diminished morbidity. Additional imaging modalities are reserved for problem solving or assessment of pulmonary manifestations of molar pregnancy. Having an awareness of their pleomorphic sonographic presentation and additional pathology that can mimic GTD is critical to avoiding pitfalls. Histologic and molecular analysis further aids in differential diagnosis. Gestational trophoblastic neoplasia (GTN) is inclusive of all malignant GTDs, and arises after 20% of molar pregnancies but can also be seen with non-molar gestations. Biochemical monitoring with human chorionic gonadotrophin is imperative for ongoing monitoring and surveillance and allows early detection of this entity. Doppler US is used for confirmation of diagnosis with magnetic resonance imaging (MRI) reserved for problem solving or assessment of myometrial invasion. This is of heightened relevance in patients undergoing surgical management. Cross sectional imaging is reserved for patients in the setting of GTN for the purposes of staging, prognostication and in the setting of recurrent disease. This may require a combination of computed tomography, MRI and positron emission tomography. Doppler US can provide insight into chemotherapeutic response/predict resistance in patients with GTN. As our understanding of these disorders evolves, there has been maturation in management options with a shift from traditional chemotherapy to innovative immunotherapy, particularly in the setting of resistant or high-risk disease.

Evaluation of a Web-Based Intervention for Patients with Gestational Trophoblastic Disease: A Randomized Controlled Trial.

OBJECTIVE: Gestational trophoblastic diseases (GTD) comprise a group of rare diseases originating from the trophoblast affecting women of childbearing age. Providing optimal information to patients with a rare disease is challenging because of the small number of patients and limited clinical expertise of many healthcare professionals. Both knowledge and lack of knowledge in patients may influence illness perception. We investigated whether a web-based interactive intervention influences illness perception and knowledge in women with GTD. DESIGN: This was a multicenter randomized control trial conducted at general and academic hospitals in the Netherlands, including newly diagnosed GTD patients between 2017 and 2019. METHODS: Sixty-nine patients were randomized between direct access or postponed access to an online tool on GTD and received online questionnaires about illness perception, knowledge, and anxiety. The main outcome measures were illness perception (primary outcome measure) and knowledge (secondary outcome measure). RESULTS: Patients using the online tool were satisfied with the information from the tool (92%). Although they had a higher level of knowledge compared to the control group (p = 0.006), illness perception did not change. Also, no differences in levels of anxiety, depression, or distress were observed between the groups. LIMITATIONS: Participants had access to other information sources and many searched other websites. It is unknown what kind of websites were visited and when. It is unknown if the increased knowledge levels and low levels of distress will sustain over time as no long term follow-up took place. Healthcare professionals were not interviewed on how they experienced the consultation before and after using the tool by the patients. CONCLUSIONS: The online tool did not change illness perception but was shown to be valuable for newly diagnosed GTD patients to gain knowledge. The improvement in knowledge after digital education indicates that this tool can be used as an effective method of supporting GTD patients' informational needs without causing extra distress. TWEETABLE ABSTRACT: A web-based tool for trophoblastic disease does not change illness perception of patients but is valuable to gain knowledge.

Long-term outcome of ultrasound-guided focused ultrasound ablation for gestational trophoblastic neoplasia in the cesarean scar: a case report.

BACKGROUND: The treatment of gestational trophoblastic neoplasia (GTN) is one of the success stories in medical oncology. GTN in the cesarean scar is a rare entity, but most cases need to be treated with hysterectomy or localized uterine lesion resection because of chemoresistant lesions and/or massive bleeding. We present a patient with post-molar GTN in the cesarean scar who was non-invasively treated with ultrasound-guided high intensity focused ultrasound (HIFU) to preserve the uterus and fertility. CASE PRESENTATION: A 32-year-old woman was diagnosed with low-risk GTN (FIGO Stage I: 2 prognostic score) after partial hydatidiform mole. The 5th cycle of chemotherapy was interrupted because of persistent hepatic toxicity and impaired ovarian reserve function. However, the uterine lesion persisted (diameter of residual uterine lesion in the cesarean scar: 2.0 cm). Therefore, ultrasound-guided HIFU treatment was performed. A significant gray-scale change was observed during the HIFU treatment. Color Doppler ultrasonography and contrast-enhanced ultrasound (CEUS) was performed to evaluate the ablation effectiveness. Color Doppler ultrasonography showed disappearance of the signal of vascularity and CEUS showed no perfusion in the lesion located in the cesarean scar. The uterine lesion was obviously shrunken one month after HIFU treatment. Menstrual cycle resumed 48 days after HIFU. HIFU treatment decreased the number of chemotherapy cycles and there was complete disappearance of the GTN lesion at 4-month follow-up. The patient has shown no signs of recurrence as of 58-month follow-up. CONCLUSION: Ultrasound-guided HIFU may be a useful alternative to lesion resection for GTN in the cesarean scar in patients who show chemoresistance or are not suitable for chemotherapy. It has the potential to ablate the residual uterine lesion noninvasively to preserve the uterus and fertility, avoiding perioperative risks of lesion resection, especially acute bleeding.

Advances in diagnostics and management of gestational trophoblastic disease.

BACKGROUND: Gestational trophoblastic disease (GTD) is a heterogeneous group of rare tumours characterised by abnormal proliferation of trophoblastic tissue. It consists of benign or premalignant conditions, such as complete and partial molar pregnancy and variants of malignant diseases. The malignant tumours specifically are commonly referred to as gestational trophoblastic neoplasia (GTN). They consist of invasive mole, choriocarcinoma, placental-site trophoblastic tumour (PSTT) and epithelioid trophoblastic tumour (ETT). CONCLUSIONS: Patients with GTD are often asymptomatic, although vaginal bleeding is a common presenting symptom. With the advances in ultrasound imaging in early pregnancy, the diagnosis of molar pregnancy is most commonly made in the first trimester of pregnancy. Sometimes, additional imaging such as chest X-ray, CT or MRI can help detect metastatic disease. Most women can be cured, and their reproductive function can be preserved. In this review, we focus on the advances in management strategies for gestational trophoblastic disease as well as possible future research directions.

[GESTATIONAL TROPHOBLASTIC DISEASE: THE NEED FOR CENTRALIZATION OF TREATMENT CENTERS IN ISRAEL].

INTRODUCTION: Gestational trophoblastic disease comprises a spectrum of pregnancy-related disorders, consists of premalignant disorders of complete and partial hydatidiform mole, and malignant disorders such as invasive mole, choriocarcinoma, and the rare placental-site trophoblastic tumor/epithelioid trophoblastic tumor. These malignant forms are termed Gestational Trophoblastic Neoplasia (GTN). Until the early 1960's, hysterectomy was the treatment of choice for women with malignant trophoblastic diseases. The five-year survival rate was 40% for local disease, and around 20% in women with metastases. Chemotherapy, treatment according to the various risk factors and the use of ß-hCG values as a marker for monitoring the disease, resulted in a cure rate exceeding 98%, while preserving patient's fertility. Due to its` extremely low incidence with relatively complex treatment protocols, in the presence of high potential for side effects, in most countries there are tertiary centers that coordinate the treatment and follow-up of these diseases. In this review, we will summarize strategies for the primary management of gestational trophoblastic disease, the evaluation and management of malignant gestational trophoblastic neoplasia (GTN) and surveillance after treatment.

Clinical Presentation, Treatment Outcomes, and Resistance-related Factors in South American Women with Low-risk Postmolar Gestational Trophoblastic Neoplasia / Apresentação clínica, resultados do tratamento e fatores relacionados à resistência em mulheres sul-americanas com neoplasia trofoblástica gestacional pós-molar de baixo risco

Abstract Objective There are few multinational studies on gestational trophoblastic neoplasia (GTN) treatment outcomes in South America. The purpose of this study was to assess the clinical presentation, treatment outcomes, and factors associated with chemoresistance in low-risk postmolar GTN treated with first-line single-agent chemotherapy in three South American centers. Methods Multicentric, historical cohort study including women with International Federation of Gynecology and Obstetrics (FIGO)-staged low-risk postmolar GTN attending centers in Argentina, Brazil, and Colombia between 1990 and 2014. Data were obtained on patient characteristics, disease presentation, and treatment response. Logistic regression was used to assess the relationship between clinical factors and resistance to first-line single-agent treatment. A multivariate analysis of the clinical factors significant in univariate analysis was performed. Results A total of 163 women with low-risk GTN were included in the analysis. The overall rate of complete response to first-line chemotherapy was 80% (130/163). The rates of complete response to methotrexate or actinomycin-D as first-line treatment, and actinomycin-D as second-line treatment postmethotrexate failure were 79% (125/157), 83% (⅚), and 70% (23/33), respectively. Switching to second-line treatment due to chemoresistance occurred in 20.2% of cases (33/163). The multivariate analysis demonstrated that patients with a 5 to 6 FIGO risk score were 4.2-fold more likely to develop resistance to first-line single-agent treatment (p= 0.019). Conclusion 1) At presentation, most women showed clinical characteristics favorable to a good outcome, 2) the overall rate of sustained complete remission after first-line single-agent treatment was comparable to that observed in developed countries, 3) a FIGO risk score of 5 or 6 is associated with development of resistance to first-line single-agent chemotherapy.

Resumo Objetivo Existem poucos estudos multinacionais sobre os resultados do tratamento da neoplasia trofoblástica gestacional (NTG) na América do Sul. O objetivo deste estudo foi avaliar a apresentação clínica, os resultados do tratamento e os fatores associados a casos de quimiorresistência em NTG pós-molar de baixo risco tratados com quimioterapia de agente único de primeira linha em três centros sul-americanos. Métodos Estudo multicêntrico de coorte histórica incluindo mulheres com NTG pós-molar de baixo risco com estadiamento International Federation of Gynecology and Obstetrics (FIGO) em centros de atendimento na Argentina, Brasil e Colômbia entre 1990 e 2014. Foram obtidos dados sobre as características do paciente, apresentação da doença e resposta ao tratamento. A regressão logística foi usada para avaliar a relação entre fatores clínicos e resistência ao tratamento de primeira linha com agente único. Foi realizada uma análise multivariada dos fatores clínicos significativos na análise univariada. Resultados Cento e sessenta e três mulheres com NTG de baixo risco foram incluídas na análise. A taxa global de resposta completa à quimioterapia de primeira linha foi de 80% (130/163). As taxas de resposta completa ao metotrexato ou actinomicina-D como tratamento de primeira linha e actinomicina-D como tratamento de segunda linha após falha do metotrexato foram 79% (125/157), 83% (⅚) e 70% (23/33), respectivamente. A mudança para o tratamento de segunda linha por quimiorresistência ocorreu em 20,2% dos casos (33/163). A análise multivariada demonstrou que pacientes com pontuação de risco FIGO de 5 a 6 foram 4,2 vezes mais propensos a desenvolver resistência ao tratamento com agente único de primeira linha (p= 0,019). Conclusão 1) Na apresentação, a maioria das mulheres demonstrou características clínicas favoráveis a um bom resultado, 2) a taxa geral de remissão completa sustentada após o tratamento de primeira linha com agente único foi comparável à de países desenvolvidos, 3) um escore de risco FIGO de 5 ou 6 está associado ao desenvolvimento de resistência à quimioterapia de agente único de primeira linha.

Clinical features and management of trophoblastic epithelioid tumors: A systematic review.

BACKGROUND: This study aimed to systematically review the existing literature on epithelioid trophoblastic tumors (ETTs), the rarest type of gestational trophoblastic neoplasia. METHODS: A systematic review according to PRISMA guidelines was performed, using ScienceDirect, Web of Science, and Scopus databases. The only filter used was the English language. Eligibility/inclusion criteria: retrospective observational studies (case reports, case series) including full case description of epithelioid trophoblastic tumor lesions. RESULTS: Seventy studies were assessed for synthesis, including 147 cases. 66.7% of patients with ETT presented with irregular vaginal bleeding. Pretreatment ß-hCG levels ranged up to 1000 mIU/mL in 58.5% patients. Of most patients, 42.2% had stage I disease, 10.9% stage II, 25.2% stage III, and 21.8% of patients had stage IV. The most common sites of metastatic disease were the lungs, followed by the liver and brain. After treatment, complete remission was achieved in 75.5% of patients, partial remission in 10.2% of patients, and 14.3% of patients died. On univariate and multivariate analyses, stage IV disease was an independent prognostic factor for overall and disease-free survival. CONCLUSIONS: Hysterectomy and metastatic lesion resection are essential for controlling ETT. Investigational studies on molecules like EGFR, VEGF, PD-1, CD105, and LPCAT1 are potential therapeutic targets for metastatic ETT.

Development and validation of a health information system for assistance and research in gestational trophoblast disease.

BACKGROUND: Gestational Trophoblastic Disease (GTD) comprises pathological forms of placental trophoblastic tissue proliferation. When benign, they present with hydatidiform moles, and when malignant, they are called Gestational Trophoblastic Neoplasia. With the growth of the practice of digital health, allied to updated therapeutic approaches, the Outpatient Clinic for Gestational Trophoblastic Disease has built a Health Information System (HIS), contributing to the teaching-learning binomial, as well as to self-care. METHODS: This is a cross-sectional and blind technological assessment research for developing SIS-Mola (Website for the medical team and the Application "MolaApp" aimed at patients with GTD). We used the Praxis management approach to manage the application creation project. In the tasks involving real-time chat, a WebSocket layer was created and hosted together with the project's web services, which use the Arch Linux operating system. For the evaluations, we provided questionnaires developed based on the System Usability Scale (SUS), to determine the degree of user satisfaction, with objective questions on the Likert scale. We invited 28 participants for the evaluations, among ABDTG specialist physicians, doctors from the DTG Outpatient Clinic team, and the patients. The study was systematized according to the rules of treatment and follow-up in treating the disease. RESULTS: The tests were conducted from November 2021 to February 2022. The responses obtained on a Likert scale indicated reliability and credibility to the HIS, since the total usability score, measured by the ten questions of the SUS instrument, had a mean of 81.1 (clinicians), 80 (patients) and median of 77.5 for both groups. The sample was characterized according to the variables: age, gender, education, computer knowledge, and profession. CONCLUSION: Developing a HIS in the GTD Outpatient Clinic met the objectives regarding the rules of treatment and follow-up of patients. With these digital tools, it is possible to obtain data about the patient's health, sending information through exams performed and appropriate treatments. The connectivity capacity allows agile care, saving time, costs and solving the displacement problem. The TICs generate natural efficiency for the organization in the flow of service and the formation of a database, improving the quality of the assistance.

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

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.

Gestational trophoblastic neoplasm in a patient with end-stage renal failure (ESRF): the challenges and lessons learnt.

Gestational trophoblastic neoplasm (GTN) in end-stage renal failure (ESRF) has not been reported. We reported an unprecedented case of GTN in ESRF from an antecedent partial mole. She had total abdominal hysterectomy and bilateral salpingectomy following the diagnosis as the disease was confined to the uterus. A histopathological examination confirmed an invasive mole. Consequently, she received a total of four cycles of single-agent intravenous actinomycin D as she was at low risk. Despite initial response, her disease metastasised to her right kidney for which radiotherapy was given, followed by a total of 33 doses of weekly paclitaxel. She responded to the chemotherapy and currently remains in remission. The choice of chemotherapy and their side effects due to ESRF remain the main challenges in her management. Total hysterectomy should be considered as the first-line treatment for a hydatidiform mole to prevent GTN. A multidisciplinary approach is important to optimise the efficacy of the treatment with minimal compromise of her safety.

Experience of women on the Irish National Gestational Trophoblastic Disease Registry.

OBJECTIVE: Gestational Trophoblastic Disease (GTD) is a rare pregnancy related disorder and the most curable of all gynaecological malignancies. GTD comprises the premalignant conditions of complete or partial hydatidiform mole known as molar pregnancy and a spectrum of malignant disorders termed gestational trophoblastic neoplasia. Clinical management and treatment in specialist centres is essential to achieve high cure rates and clinical guidelines recommend registration with a GTD centre as a minimum standard of care. National GTD registries are valuable repositories of epidemiological data and facilitate clinical audit, centralised pathology review and human chorionic gonadotropin (hCG) monitoring. This study sought the opinion of women enrolled on the Irish National GTD registry to inform future service development and establish a knowledge base for molar pregnancy in Ireland. STUDY DESIGN: A cross-sectional survey using an anonymised questionnaire was distributed by post to all women on the GTD registry. The questionnaire was designed by a multidisciplinary team and consisted of twenty-five closed-ended questions and two open-ended questions to facilitate feedback. Data collected in the survey included information on the patient experience of registration, knowledge of molar pregnancy, diagnosis at their local hospital, hCG monitoring and overall satisfaction with the service. RESULTS: The survey had a successful participation rate of 42.6% (215/504). Forty-nine percent (n = 106) of respondents rated a rapid hCG result as their top priority. Forty percent (n = 84) of women had concerns about future pregnancies but acknowledged that these were largely addressed by the GTD specialist nurses. A quarter of respondents reported that other medical professionals with whom they interacted during follow-up treatment did not understand their condition. Many women commented on the emotional stress of attending their local maternity unit for phlebotomy while dealing with pregnancy loss. CONCLUSION: This study is unique in being the first survey of women on the Irish National GTD registry. It highlights the specific needs of women with molar pregnancy in terms of psychological support, bereavement counselling and peer support groups. It reveals a knowledge gap in molar pregnancy amongst healthcare professionals which should be considered in future planning of medical and nursing curricula.

Gestational trophoblastic disease- rare, sometimes dramatic, and what we know so far.

Gestational trophoblastic disease (GTD) is a heterogeneous group of lesions that are characterized by the abnormal proliferation of the trophoblast. Morphology, behavior and clinical significance vary tremendously and range from benign, non-neoplastic lesions that cause sometimes dysfunctional uterine bleeding to aggressive, highly, malignant tumors. The recently updated 2020 World Health Organization (WHO) Classification of Female Genital Tumors divides GTD in molar pregnancies/ hydatidiform moles, gestational trophoblastic neoplasms, tumor-like lesions and abnormal (nonmolar) villous lesions. In this article we review the typical clinical presentations of GTDs, their histopathologic features, contributing immunohistochemical stains and current diagnostic criteria. We discuss novel insights in the proposed pathogenesis, newly proposed entities and advances in ancillary diagnostic techniques and their relevance to the histopathologic diagnosis of GTD. Additionally we briefly review current treatment options, prognosis and prognostic factors of GTDs.

Analysis of patient experiences with gestational trophoblastic neoplasia reported on Instagram social media.

OBJECTIVE: This study aimed to explore patient-reported content on Instagram social media posts focused on gestational trophoblastic neoplasia (GTN). STUDY DESIGN: A cross-sectional search of public Instagram posts containing the term #gestationaltrophoblasticneoplasia from 1/1/2019-12/31/2019 was performed. This study included only patient-centered posts written in the English language posts. Investigators collected data for timing relative to diagnosis, subject matter, content, and tone. We utilized a staged approach to analyzing social media post content through familiarization, identifying the thematic framework, indexing, summarizing, and interpreting data. Descriptive statistical analysis was performed. RESULTS: In total, of 326 extracted posts from 1/1/2019-12/31/2019, 291 (89.3%) met the criteria for study inclusion. The majority of content was posted during chemotherapy (n = 142, 48.8%) or in the surveillance period (n = 121, 41.6%) after completion of treatment. Qualitative analysis identified ten major themes: cancer therapy and side effects (n = 142, 48.8%), pregnancy loss (n = 59, 20.3%), labs and imaging (n = 60, 20.6%), acknowledgement of a support person (n = 37, 12.7%), infertility (n = 32, 11.0%), hardships of parenting during cancer (n = 21, 7.2%), religion/spirituality (n = 18, 6.2%), diagnosis (n = 12, 4.1%) fear of recurrence (n = 10, 3.4%) and surgery (n = 7, 2.4%). Further, of the posts focused on chemotherapy side effects, approximately one-half (n = 38, 46.3%) discussed hair loss, and fatigue was reported in 25.6% (n = 21) of posts. CONCLUSIONS: In this cross-sectional study of Instagram posts using the hashtag #gestationaltrophoblasticneoplasia, we identify that women with GTN use Instagram posts to share experiences unique to their cancer diagnosis, including chemotherapy side effects, including hair loss, infertility, labs and imaging, and the hardships of parenting during cancer. This analysis provides important information regarding patient values and experiences following a diagnosis of GTN.