Malignant Ovarian Germ Cell Tumors Research Articles

Malignant Germ cell Tumor of Ovary: An Unusual Combination and An Irony of Fate

Malignant mixed ovarian germ cell tumors are very rare malignant ovarian germ cell tumors, with a very high degree of malignancy. They are aggressive cancers affecting young adolescent girls. The commonest combination reported in literature is dysgerminoma and endodermal sinus tumors. Fertility sparing surgery followed by combination chemotherapy is the treatment of choice. The objectives of this case report are the advanced age of presentation, unusual histopathological combination, and the irony of infertility treatment. We report a rare case of 40-year-old woman with Malignant mixed germ cell tumor comprising of components of endodermal sinus tumor, immature teratoma, dysgerminoma and embryonal carcinoma. Patient was on hormonal therapy for the cause of infertility, presented with complains of lower abdominal pain, constipation and incomplete evacuation of bladder for 2months. Transvaginal ultrasonography and CT scan showed a large multicystic space occupying lesion with predominant solid component in midline abdominopelvic location. Tumor markers i.e., AFP, Prolactin and CA125 were raised. Total abdominal hysterectomy and bilateral salpingoophorectomy, pelvic and retroperitoneal node resection, peritonectomy and omentectomy was performed.

Incidence and outcomes of malignant ovarian germ cell tumors in Korea, 1999–2017

ObjectiveMalignant ovarian germ cell tumor (MOGCT) is a rare ovarian malignancy accounting for less than 5% of all ovarian cancers. We aimed to evaluate the incidence, survival, and subsequent malignancies after the diagnosis of MOGCT. MethodsData from the Korea Central Cancer Registry were used to identify MOGCTs between 1999 and 2017. The age-standardized rates (ASRs), 5-year relative survival rates (RSR) and standardized incidence ratio (SIR) for subsequent cancer after diagnosis of MOGCT were estimated. ResultsOf 2125 cases of newly diagnosed MOGCTs, 596 (28.0%) were diagnosed with dysgerminoma and 1529 (72.0%) with non-dysgerminoma. The ASR per 100,000 women-years was 0.539; ASR slightly increased over the study period (annual percent change [APC] = 1.01%; p = 0.02). There was an increase and decrease in the incidence of MOGCTs in the age groups 0–19 years (APC = 1.96%; p < 0.01) and ≥ 50 years (APC = −6.51%; p < 0.01), respectively. Patients with dysgerminoma showed significantly higher RSR than patients with non-dysgerminoma (98.0% vs. 94.9%, p < 0.01). Patients aged ≥50 years showed worst 5-year RSR (68.7%) than patients aged 0–19 years (97.8%) and 20–34 years (96.4%) (p < 0.01). The overall SIR for a subsequent cancer occurrence was 2.07, with the most frequent site of subsequent primary cancer being the thyroid (SIR = 2.78). ConclusionsOur data demonstrated an excellent prognosis of MOGCTs among Korean women. There was a slight increase in MOGCT prevalence, which was more pronounced among those aged <19 years. After MOGCT diagnosis, the risk of developing a subsequent malignancy was doubled compared with the general population.

Fertility sparing surgery in malignant ovarian Germ cell tumor (MOGCT): 15\xa0years experiences

AimWe aim to evaluate the reproductive outcome of fertility-sparing surgery and chemotherapy among young women diagnosed with MOGCT of any stage.MethodsIn the current retrospective study we evaluated 79 patients with malignant ovarian germ cell tumors (MOGCT) who visited at Imam Center, Vali-e-asr Hospital, Gynecologic Oncology department during 2001–2016. Reproductive outcomes (menstruation status and childbearing) followed fertility-preserving surgery and adjuvant chemotherapy by filling questionnaires. Statistical analysis was done with SPSS software, Chi-Square Tests were done, and significance was determined at P ≤ 0.05. Results among 79 young women who underwent fertility-sparing treatment, 72 patients followed up for reproductive outcome, and 7 patients excluded because of death (3 cases), XY genotyping (3 cases), and bilateral ovarian involvement (1 case). The mean age at presentation was 23 years. (Range: 19–33 years). The 5 and 10-year disease-free survival rate was 87% and 94.4%, respectively. The overall survival rate (OSR) was 94.4% at 5 and 10 years. Regular menstruation recovered in 60 of 72 patients after treatment (83%). All patients without adjuvant chemotherapy experienced regular menstruation, while normal menstruation was retrieved in 78% in the adjuvant chemotherapy group at the end of treatment. This retrieval of regular menstruation was not dependent on the age or number of chemotherapy cycles. 19 of 26 patients who attempted pregnancy were led to delivery (73%). No one required infertility treatments. The mean of chemotherapy cycles is related to a successful pregnancy.ConclusionWe showed patients with MOGCT could become pregnant and give birth if they desire. The advanced tumor stage wasn't the convincing factor for avoiding fertility preservation. Fertility sparing surgery with adjuvant chemotherapy is a safe treatment and results in a high fertility rate.

The effect of fertility-sparing surgery on sexuality and global quality of life in women with malignant ovarian germ cell and sex cord stromal tumors: an analysis of the CORSETT database of the AGO study group

PurposeMalignant ovarian germ cell (MOGCT) and sex cord stromal tumors (SCST) are ovarian neoplasms that affect disproportionally young women. Little is known about the impact of surgical and adjuvant management of these patient’s sexual life. This study investigated the effect of fertility-sparing surgery on sexual activity and global quality of life (gQoL) in women with MOGCT and SCST.MethodsCORSETT was an observational, multicenter, mixed retrospective/prospective cohort study of the AGO study group. Women of any age who had been diagnosed with MOGCTs and SCSTs between 2001 and 2011 were asked to complete the Sexual Activity Questionnaire (SAQ) and the EORTC QLQ-C30.ResultsIn total, 355 patients were included. Of these, 152 patients with confirmed histological diagnosis had completed the questionnaires. A total of 106 patients were diagnosed with SCST and 46 with MOGCT.Totally, 83 women (55%) were sexually active. After fertility-sparing surgery, patients had a 2.6 fold higher probability for being sexually active than after non-fertility-conserving treatment (unadjusted odds ratio (OR) 2.6, p = 0.01). After adjustment for age, time since diagnosis, FIGO stage, histology and phase of disease, the OR dropped to 1.8 (p = 0.22).Of the sexually active patients, 35 (42%) reported high levels of discomfort during intercourse; 38% after fertility-sparing; and 58% after non-fertility-sparing surgery (adjusted OR 2.8, p = 0.18).Women with fertility-conserving treatment reported a significantly better global QoL (Fadj 2.1, 6.2 points difference, p = 0.03) but not more pleasure during intercourse than women without fertility-sparing surgery (Fadj 0.4, p = 0.52).ConclusionFertility preserving approaches should be offered to every patient, when oncologically acceptable.

Relationship between Clinicopathologic Features and Recurrence in Ovarian Germ Cell Tumor

Background: We conducted the present study to analyze the clinicopathologic features of patients with malignant ovarian germ cell tumor (MOGCT) with recurrence after 2 and 5 years. Method: In this retrospective and analytical-descriptive study, the obtained data included: age, tumor size, histopathological type, tumor stage, lymph node involvement, laterality of tumor, tumor necrosis, and mitosis. We also evaluated the Cox Regression analysis between these variables with recurrence after 2 and 5 years. Results: According to our exclusion criteria, we eliminated 81 cases. These cases consisted of the subjects with dysgerminoma (48.1%), immature teratoma (22.2%), yolk sac (16%), mix germ cell (11.1%), non-gestational choriocarcinoma (1.2%), and embryonal carcinoma (1.2%). We did not observe pure polyembryoma or polyembryoma in combination with mixed germ cell. All the patients received the treatment. The patients’ mean age was 23.3±8.4 years. MOGCT reoccurred in 10 patients after 2 years and in 13 patients after 5 years (10 cases in the first 2 years, and 3 new cases in the next 3 years). Most of the cases (64.2%) were diagnosed to be at stage 1. The Cox regression analysis between positive lymph node and the recurrence of MOGCT after 2 years and between stage IV of disease and the recurrence after 2 years were significant. The Cox regression analysis between laterality, mitosis and necrosis in pathologic slides of the recurrence after 2 and 5 years was not significant. Conclusion: Stages and involvement of lymph nodes are two major factors concerning the recurrence of MOGCT. Most recurrences occur in the first 2 years. Pathologic features (mitosis and necrosis) of MOGCt in the time of diagnosis not correlated with the recurrence of the disease.

Ovarian yolk sac tumor in a patient with sexual differentiation disorder: a case description.

Yolk sac tumor (YST), also called endodermal sinus tumor, is a rare malignant tumor accounting for less than 1% of all ovarian malignancies and is the second most common malignant ovarian germ cell tumor (MOGCT) (1,2). Disorder of sexual differentiation (DSD), once known as hermaphroditism, is also a rare cause of intersexuality disorders, where an individual has both male and female gonads (3,4). Due to the rarity of the condition, most articles about DSD are case reports and are limited in number (3,5). To the best of our knowledge, the YST of the ovary in adult DSD has rarely been reported in the literature. Here, we report a case of an adult DSD patient with an ovarian YST and their follow-ups after surgical treatment and chemotherapy.

Nonepithelial ovarian cancers

Key content Nonepithelial ovarian cancers (NEOCs) are rare forms of ovarian cancer, including malignant ovarian germ cell tumours (MOGCTs), sex cord‐stromal tumours (SCSTs) and ovarian sarcoma. Tumour markers including alpha‐fetoprotein, human chorionic gonadotrophin, lactate dehydrogenase and inhibin can be useful in aiding preoperative diagnosis of malignant ovarian masses. NEOCs are staged using a similar classification to epithelial ovarian tumours; however, the staging system for male germ cell tumours is considered a more useful prognostic tool. These tumours can occur at any age; however, many present in the reproductive years, and fertility‐sparing treatments are often required. Advanced‐stage MOGCTs and SCSTs are managed with debulking surgery and platinum‐based adjuvant chemotherapy, with the regimen of bleomycin, etoposide and cisplatin being most widely used. Learning objectives To understand the classification and pathology of NEOCs. To describe the role of tumour markers in diagnostic criteria and to be aware of the FIGO staging classifications and their prognostic use. To understand management protocols and follow‐up regimens. Ethical issues Patients of reproductive age risk infertility if preoperative diagnosis is incorrect and more extensive surgery involving bilateral salpingo‐oophorectomy is performed.

Importance of guidelines and networking for the management of rare gynecological cancers.

Guidelines are essential to support appropriate medical management. The objective of our paper is to highlight the need for such recommendations, to reinforce strategies in place and to promote the creation of multidisciplinary networks to provide the most appropriate care to patients and to improve it. Gynecological rare cancers are not that rare since they represent around 50% of all gynecological cancers. Surgery remains the cornerstone of management for all subtypes. Apart from malignant ovarian germ-cell tumors for which conventional chemotherapy was proven to be efficient, response to standard systemic treatment for other gynecological cancers are disappointing. Better understanding of these pathologies is needed and requires more adapted management. Rare cancers are substantially heterogeneous but raise the need of integrating new cases in dedicated networks to enhance and homogenize medical practices. Centralized diagnosis, improved medical practice based on regularly updated international guidelines, and inclusion in innovative clinical trials linked to preclinical studies are essential to contribute to the promotion of improvement in patient care.

Analysis of the genomic landscape of yolk sac tumors reveals mechanisms of evolution and chemoresistance

Yolk sac tumors (YSTs) are a major histological subtype of malignant ovarian germ cell tumors with a relatively poor prognosis. The molecular basis of this disease has not been thoroughly characterized at the genomic level. Here we perform whole-exome and RNA sequencing on 41 clinical tumor samples from 30 YST patients, with distinct responses to cisplatin-based chemotherapy. We show that microsatellite instability status and mutational signatures are informative of chemoresistance. We identify somatic driver candidates, including significantly mutated genes KRAS and KIT and copy-number alteration drivers, including deleted ARID1A and PARK2, and amplified ZNF217, CDKN1B, and KRAS. YSTs have very infrequent TP53 mutations, whereas the tumors from patients with abnormal gonadal development contain both KRAS and TP53 mutations. We further reveal a role of OVOL2 overexpression in YST resistance to cisplatin. This study lays a critical foundation for understanding key molecular aberrations in YSTs and developing related therapeutic strategies.

Imaging in gynecological disease (22): clinical and ultrasound characteristics of ovarian embryonal carcinomas, non-gestational choriocarcinomas and malignant mixed germ cell tumors.

To describe the clinical and ultrasound characteristics of three types of rare malignant ovarian germ cell tumor: embryonal carcinoma, non-gestational choriocarcinoma and malignant mixed germ cell tumor. This was a retrospective multicenter study. From the International Ovarian Tumor Analysis (IOTA) database, we identified patients with a histological diagnosis of ovarian embryonal carcinoma, non-gestational choriocarcinoma or malignant mixed germ cell tumor, who had undergone preoperative ultrasound examination by an experienced ultrasound examiner between 2000 and 2020. Additional patients with the same histology were identified from the databases of the departments of gynecological oncology in the participating centers. All tumors were described using IOTA terminology. Three examiners reviewed all available ultrasound images and described them using pattern recognition. One patient with embryonal carcinoma, five patients with non-gestational ovarian choriocarcinoma and seven patients with ovarian malignant mixed germ cell tumor (six primary tumors and one recurrence) were identified. Seven patients were included in the IOTA studies and six patients were examined outside of the IOTA studies. The median age at diagnosis was 26 (range, 14-77) years. Beta-human chorionic gonadotropin levels were highest in non-gestational choriocarcinomas and alpha-fetoprotein levels were highest in malignant mixed germ cell tumors. Most tumors were International Federation of Gynecology and Obstetrics (FIGO) Stage I (9/12 (75.0%)). All tumors were unilateral, and the median largest diameter was 129 (range, 38-216) mm. Of the tumors, 11/13 (84.6%) were solid and 2/13 (15.4%) were multilocular-solid; 9/13 (69.2%) manifested abundant vascularization on color Doppler examination. Using pattern recognition, the typical ultrasound appearance was a large solid tumor with inhomogeneous echogenicity of the solid tissue and often dispersed cysts which, in most cases, were small and irregular. Some tumors had smooth contours while others had irregular contours. A unilateral, large solid tumor with inhomogeneous echogenicity of the solid tissue and with dispersed small cystic areas in a young woman should raise the suspicion of a rare malignant germ cell tumor. This suspicion can guide the clinician to test tumor markers specific for malignant germ cell tumors. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.

A Case of a Rare Malignant Mixed Ovarian Germ Cell Tumor Masquerading as an Ectopic Pregnancy

Malignant ovarian germ cell tumors (MOGCTs) are rare but disproportionately affect young women and adolescent girls. Although clinical presentation varies, these tumors can present with an adnexal mass and raised serum beta-human chorionic gonadotrophin (beta-hCG), mimicking an ectopic pregnancy. We present the case of a 20-year-old nulliparous woman, who was initially treated both medically and surgically as an ectopic pregnancy, and was eventually diagnosed with a malignant mixed germ cell tumor (MMGCT) following laparoscopy. We highlight the diagnostic challenges of ectopic pregnancies versus MOGCTs, and the importance of adopting a fertility-sparing approach in young nulliparous women. J Clin Gynecol Obstet. 2021;10(2):55-58 doi: https://doi.org/10.14740/jcgo743

Laparoscopic and imaging findings of growing teratoma syndrome

Growing teratoma syndrome (GTS) occurs during post-treatment observation of ovarian malignant germ cell tumors. The characteristic features of this syndrome are normal tumor marker levels and evident tumoral mass or implants on imaging studies. We report a case of GTS in a 22-year-old woman with a malignant germ cell tumor. After staging surgery and chemotherapy, computed tomography showed peritoneal implants. Laparoscopy was planned to exclude malignant recurrence. During laparoscopy, smooth and pink-colored lesions were seen at the lateral pelvic wall. Histopathologic evaluation reported mature teratoma tissue with extensive mature glial components. GTS is not a malignant condition and the benefit of radical surgical intervention in cases without mass-related complication is not proven. GTS should be kept in mind after primary treatment of ovarian immature teratoma.

Surveillance alone in stage I malignant ovarian germ cell tumors: a MITO (Multicenter Italian Trials in Ovarian cancer) prospective observational study

ObjectiveThe aim of this study was to analyze the oncological outcome of stage I malignant ovarian germ cell tumors patients included in the MITO-9 study to identify those who might...

Ovarian yolk sac tumor

Ovarian germ cell tumors derive from ovarian germ cells and account for approximately 20% of all ovarian neoplasms. Only 1–2% of ovarian germ cell tumors are called malignant ovarian germ...

УЗ-признаки герминогенных опухолей яичников у беременных перед хирургическим лечением или химиотерапией

The problem of ovarian tumor differential diagnosis is solved using comprehensive ultrasound examination at different levels of efficiency. However, ultrasound imaging is an operator-dependent technique due to subjective interpretation of results. The study was aimed to assess the ultrasound signs of benign and malignant ovarian germ cell tumors (OGCTs) in pregnant women in order to determine the feasibility of surgical treatment and chemotherapy. The study was carried out using the logistic regression models. A group of 199 pregnant women with benign and malignant OGCTs were enrolled. Of them, 183 patients had benign, and nine patients had malignant tumors. In order to assess menstrual function and fertility, seven pregnant women were enrolled, who had previously received treatment for malignant OGCTs. Pre-operative assessment results were compared with morphological assessment data. Organ-preserving surgical treatment was performed (unilateral adnexectomy); if necessary, the patients received cisplatin-based chemotherapy. Perinatal outcomes were assessed. The median observation time between the malignant OGCT detection and the end of the study was 66 months (12–240 months). It was found that comprehensive ultrasound examination and logistic regression models (sensitivity 100%, specificity 92.3%, overall accuracy 92.8%) enabled differential diagnosis of benign and malignant OGCTs. The number of unnecessary surgical procedures in patients with benign OGCTs was been limited, the pregnancy and childbirth outcomes were improved. Nine pregnant women received organ-preserving surgical treatment for malignant OGCTs, and three patients received chemotherapy after surgery, which allowed the patients to realize their reproductive potential.

Whole-exome sequencing reveals potential germline and somatic mutations in 60 malignant ovarian germ cell tumors

Malignant ovarian germ cell tumors (MOGCTs) are rare and heterogeneous ovary tumors. We aimed to identify potential germline mutations and somatic mutations in MOGCTs by whole-exome sequencing. The peripheral blood and tumor samples from these patients were used to identify germline mutations and somatic mutations, respectively. For those genes with copy number alterations (deletion and duplication region), functional annotation was performed. Immunohistochemistry was performed to evaluate the expression of mutated genes corresponding to CNA deletion region and duplication region. In peripheral blood, copy number loss and gain were mostly found in yolk sac tumors (YSTs). Moreover, POU5F1 was the most significant mutated gene with mutation frequency>10% in both CNA deletion and duplication region. In addition, strong cytoplasm staining of POU5F1 (corresponding to CNA deletion region and duplication region) was found in two YST and nuclear staining in two dysgerminomas tumor samples. Genes corresponding to CNA deletion region were significantly enriched in the signaling pathway of regulating pluripotency of stem cells. In addition, genes corresponding to CNA duplication region were significantly enriched in the signaling pathways of RIG-I (DExD/H-box helicase 58)-like receptor, Toll-like receptor and nuclear factor (NF)-kappa. Keratin 4 (KRT4), ribosomal protein L14 (RPL14), proprotein convertase subtilisin/kexin type 6 (PCSK6), poly(A)-binding protein cytoplasmic 3 (PABPC3), and sterile alpha and TIR motif containing 1 (SARM1) mutations were detected in both peripheral blood and tumor samples. Identification of potential germline mutations and somatic mutations in MOGCTs may provide a new field in understanding the genetic feature of the rare biological tumor type in the ovary.

Surveillance Only for High-risk FIGO Stage IA/IB Malignant Ovarian Germ Cell Tumors: Results From a National Cancer Database.

Investigate the use and outcomes of a surveillance only strategy for patients with high-risk stage I malignant ovarian germ cell tumors. Patients with International Federation of Gynecology and Obstetrics stage IA/IB grade 2 or 3 immature teratoma, yolk sac, or mixed germ cell tumor diagnosed between 2004 and 2014 who had at least 1 month of follow-up were drawn from the National Cancer Database. Overall survival (OS) was evaluated for each histologic subtype using Kaplan-Meier curves, and compared with the log-rank test. A total of 497 patients were identified; 115 (23.1%) with grade 2 immature teratoma, 157 (31.6%) with grade 3 immature teratoma, 101 (20.3%) with yolk sac tumor, 124 (25%) with mixed germ cell tumor. Rate of adjuvant chemotherapy was 68.2% (655 patients), while rate of lymph node biopsy/dissection was 55.2%. A total of 19 (3.8%) deaths were observed at a median of 29.8 months. There was no difference in OS between patients who did and did not receive adjuvant chemotherapy with grade 2 (P=0.35) and grade 3 immature teratoma (P=0.47) or mixed germ cell tumors (P=0.55). Patients with yolk sac tumors those who received chemotherapy had better OS compared with those who did not, P=0.019; 5-year OS rates were 92.7% and 79.6%, respectively. A surveillance only strategy for patients with stage I malignant ovarian germ cell tumors is associated with excellent survival outcomes for patients with grade 2 or 3 immature teratoma or mixed germ cell tumors.

Clinicopathological Features, Prognostic Factors, Survival Trends, and Treatment of Malignant Ovarian Germ Cell Tumors: A SEER Database Analysis

Objective: The aim of this study was to investigate the clinicopathological prognostic factors of malignant ovarian germ cell tumors (MOGCT) and evaluate the survival trends of MOGCT by histotype. Methods: We extracted data on 1,963 MOGCT cases diagnosed between 2000 and 2014 from the Surveillance, Epidemiology, and End Results (SEER) database and the histological classification of MOGCT, including 5 categories: dysgerminoma, embryonal carcinoma (EC), yolk sac tumor, malignant teratoma, and mixed germ cell tumor. We examined overall and disease-specific survival of the 5 histological types. Kaplan-Meier and Cox proportional hazards regression models were used to estimate survival curves and prognostic factors. We also estimated survival curves of MOGCT according to different treatments. Results: There was a significant difference in prognosis among different histological classifications. Age, histotype, grade, SEER stage, and surgery were independent prognostic factors for survival of patients with MOGCT. For all histotypes, 1-, 3-, and 5-year survival rate estimates were >85%, except for EC, which had the worst outcomes at 1 year (55.6%), 3 years (44.4%), and 5 years (33.3%). In the distant SEER stage, both chemotherapy and surgery were associated with improved survival outcomes compared with surgery- and chemotherapy-only groups. Conclusions: Dysgerminoma patients had the most favorable outcomes, whereas EC patients had the worst survival. A young age, low grade, and surgery were all significant predictors for improved survival. In contrast, a distant SEER stage was a risk factor for poor survival. Chemotherapy combined with surgery contributed to longer survival times of patients with MOGCT in the distant SEER stage.

A huge abdomino-pelvis tumour in a prepubertal girl: A case report of dysgerminoma infiltrating both ovaries and uterus in an 11-year-old girl in Maiduguri

Dysgerminoma is one of the rare highly malignant ovarian germ cell tumour. It originate from undifferentiated germ cells that are similar to primordial germ cells, and it is identical to testicular seminoma in males. Despite the tumour being malignant, prognosis is excellent with surgery and adjuvant chemotherapy, with promising results concerning future fertility. In this case, we report an 11-year-old girl with abdominal swelling for 7 years. She had gross abdominal distension, with a huge palpable mass. Abdominopelvic ultrasound scan showed a huge heterogeneous mass measured 9.8 cm x 15.7 cm and computed tomography showed a huge lobulated mass measured 19.2 cm x 19.0 cm x 16.3 cm. Exploratory laparotomy and excision of the mass was done. Ovarian dysgerminoma are uncommon in prepubertal girls. Prognosis depends on the stage at presentation and histology. Multidisciplinary management with a Gynaecologists and Oncologists with joint decision on the need to maintain the child’s developmental and reproductive potential as much as possible should aimed at.

Molecular Characterization of Ovarian Yolk Sac Tumor (OYST).

Simple SummaryOvarian yolk sac tumors (OYSTs) are rare and specific therapeutic strategies are needed after the failure of platinum-based first-line and salvage regimens. This retrospective study included ten patients with OYST, including patients with relapsed disease and disease-free patients. Three patients (33.3%) harbored oncogenic mutations in KRAS, KIT and ARID1A, which may be used as a target. Our series shows that relapsed patients with molecular analysis had clinically relevant molecular alterations. Future research with dedicated trials and multicenter international collaborations are needed to demonstrate the efficacy of specific therapeutic strategies after failure of platinum-based first-line and salvage regimens.Most patients with malignant ovarian germ cell tumors (MOGTCs) have a very good prognosis and chemotherapy provides curative treatment; however, patients with yolk sac tumors (OYSTs) have a significantly worse prognosis. OYSTs are rare tumors and promising results are expected with the use of specific therapeutic strategies after the failure of platinum-based first-line and salvage regimens. We initiated a project in collaboration with EORTC SPECTA, to explore the molecular characteristics of OYSTs. The pilot project used retrospective samples from ten OYST relapsed and disease-free patients. Each patient had a molecular analysis performed with FoundationOne CDx describing the following variables according to the Foundation Medicine Incorporation (FMI): alteration type (SNV, deletion), actionable gene alteration, therapies approved in EU (for patient’s tumor type and other tumor types), tumor mutational burden (TMB), and microsatellite instability (MSI) status. A total of 10 patients with OYST diagnosed between 2007 and 2017 had a molecular analysis. A molecular alteration was identified in four patients (40%). A subset of three patients (33.3% of all patients) harbored targetable oncogenic mutations in KRAS, KIT, ARID1A. Two patients at relapse harbored a targetable mutation. This retrospective study identifies clinically relevant molecular alterations for all relapsed patients with molecular analysis. Dedicated studies are needed to demonstrate the efficacy of specific therapeutic strategies after the failure of platinum-based first-line and salvage regimens and to explore the potential relationship of a molecular alteration and patient outcome.