Rare Malignant Germ Cell Tumor Research Articles

Ovarian Dysgerminoma - Challenging Presurgical Diagnosis and Mini-Mally Invasive Treatment.

Dysgerminoma is a rare malignant germ cell tumor of the ovary that often affects women in reproductive age. The presurgical differentiation of dysgerminoma from benign conditions is challenging. In early stages, malignant dysgerminoma can be treated with fertility sparing surgery. We present a pictorial non-systematic review of literature, discuss diagnostic challenges in ultrasound and radiological imaging and present laparoscopic treatment options in a young woman with dysgerminoma.

Characteristics and outcomes of pediatric testicular yolk Sac tumor.

Pediatric testicular yolk sac tumor is a rare malignant germ cell tumor and there is a lack of large clinical studies. The purpose of this study is to summarize the clinical characteristics of pediatric testicular yolk tumor and evaluate the prognostic factors. The medical records of children with testicular yolk sac tumor in one pediatric medical centre in China from January 2005 to January 2021 were retrospectively investigated. Data regarding clinical characteristics, treatment and prognosis were collected. A total of 109 patients with a median diagnosed age of 18 months (range 2-69) were included in this study; of them 100 were diagnosed as stage I, 6 as stage II and 3 as stage IV. All patients underwent radical orchiectomy, and 61 of them underwent postoperative chemotherapy. The mean follow-up time was 61.3 months (range 3-259), during that time, 8 patients experienced relapse. The five-year overall survival was 90.6% (95% CI 84.6%-96.7%). Univariate Cox regression analysis showed that disease stage, relapse, maximum tumor diameter, and alpha-fetoprotein returning to normal within 2 months postoperatively were risk factors for survival (HRs of 25.43, 26.43, 1.48 and 0.08, respectively, p < 0.05). Multivariate Cox regression analysis suggested that higher disease stage and relapse were independent adverse factors for survival (HRs of 148.30 and 94.58, respectively, p < 0.05). The prognosis of pediatric testicular yolk sac tumor is generally excellent. A higher disease stage and the occurrence of relapse could predict a poor prognosis. The individualized management of children with testicular yolk sac tumor according to risk classification is feasible.

Primary vaginal endodermal sinus tumor in infants and children: experience from a tertiary center

BackgroundThe objective of the study was to analyze the clinical features, treatment, and outcomes of primary vaginal endodermal sinus tumor (EST) in infants and children treated in a tertiary center.MethodsClinical data of patients with pathologically confirmed primary vaginal EST in our hospital from January 1997 to December 2017 were retrospectively reviewed and analyzed.ResultsA total of 21 patients were included in this study. The median age at diagnosis was 11 months (range, 4–44 months). The most common manifestations were abnormal vaginal bleeding, and a polypoid mass protruding from the vagina. Chemotherapy based on PEB (cisplatin, etoposide, bleomycin) regimen was given, and serum alpha-fetoprotein (AFP) levels dropped to normal levels after 2 to 4 cycles of chemotherapy (median, 2 cycles). After 3 to 13 cycles of chemotherapy, with a median of 5 cycles, 20 patients achieved complete remission (95.2%). The median follow-up time was 80 months (range, 4-281months). At the time of the last follow-up, 19 cases were alive without disease, and the survival rate was 90.5%.ConclusionVaginal EST is a very rare malignant germ cell tumor and is sensitive to chemotherapy. Conservative surgery combined with PEB chemotherapy is an effective way of treatment. Serum AFP and imaging examinations can monitor the treatment response and recurrence.

Primary Yolk Sac Tumor in the Cerebellar Hemisphere: A Case Report and Literature Review of the Rare Tumor.

Yolk sac tumor (YST) is one of rare malignant germ cell tumors (GCTs). Primary intracranial YST, also endodermal sinus tumor (EST), is a quite rare type of brain tumor. Here, we report a case of YST, review the relevant literature, and propose a treatment strategy for this rare tumor. A 6-year-old boy initially manifested symptoms of dizziness and vomiting. Computed tomography (CT) and magnetic resonance imaging (MRI) showed a large irregular oval tumor in the cerebellar hemisphere. We subtotally removed the tumor by microsurgery through the left suboccipital approach. Immunohistochemical staining showed that alpha fetoprotein (AFP) was positive and the Ki-67 proliferation index was high (60%), suggesting a germ cell tumor. After 3 months of follow-up, neither recurrence of tumor nor complications were found in the patient. The diagnosis of YST should be confirmed on the basis of clinical manifestations, neuroimaging and pathological findings. Gross total resection (GTR) is an ideal treatment for YST. However, due to the location of the tumor, GTR is usually difficult, and the rate of postoperative complications is high. This reported case shows that subtotal resection can be a good treatment strategy for YST.

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.

Clinicopathologic Characteristics and Survival of Patients with Rare Malignant Ovarian Yolk Sac Tumors: A Population-based Analysis

Yolk sac tumors (YSTs) are rare malignant germ cell tumors that usually affect young females. To date, there have been few studies on YSTs. We evaluated the relationship between clinicopathologic characteristics of patients with ovarian YSTs and disease outcome based on Surveillance, Epidemiology, and End Results data. The Kaplan-Meier method and log-rank test were used to evaluate differences in survival rates. Data for 269 patients were analyzed. The incidence of YSTs among ovarian germ cell tumors (OGCTs) cases was 0.4%; median patient age was 22.0 years, and most tumors were unilateral. Patients presented with distant metastasis (37.5%), localized disease (49.1%), and regional spread (8.9%). American Joint Committee on Cancer stage was available for 13 patients (stage IA, n=2; stage IC, n=1; stage IIIA, n=1; stage IIIB, n=3; stage IIIC, n=2; and stage IV, n=4). Survival rates at 1, 3, and 5 years were 91.0%, 84.0%, and 83.2%, respectively, for overall survival (OS) and 92.0%, 85.4%, and 84.5%, respectively, for disease-specific survival (DSS). The 5-year OS and DSS of patients with ovary tumors were 91.5% and 92.9%, respectively, compared to 74.8% and 77.2%, respectively, for those with extra-ovarian spread (P<.001 for both OS and DSS). Age >50 years was associated with shorter OS and DSS (both P<0.001), whereas no associatios of OS and DSS were observed with pathologic grade (P=0.49 for OS and 0.52 for DSS). In summary, YSTs are typically unilateral, of a high grade, and localized to the ovary; extra-ovarian spread has a poor outcome, and postmenopausal women have worse prognosis than premenopausal women.

Primary Yolk Sac Tumor of the Endometrium with MRI Findings: A Case Report

: Primary yolk sac tumor (YST) of the endometrium is a very rare malignant germ cell tumor, primary YST of the endometrium with detailed magnetic resonance imaging (MRI) and contrast-enhanced MRI (CE-MRI) findings have not yet been reported in the English literature. We report a 40-year-old woman presenting with irregular lower abdominal pain and dysmenorrhea for more than 5 months. MRI showed a lesion in the right side wall of the uterus. Postoperative pathology and immunohistochemistry confirmed the diagnosis of primary YST of the endometrium with the International Federation of Gynecology and Obstetrics (FIGO) system staging of IV. The signal of the tumor was complex and lacked specific characteristic. Diffusion-weighted imaging (DWI) showed that the lesion is diffuse limited, the average apparent diffusion coefficient (ADC) value of the solid component was 0.735 × 10-3 mm2/s. CE-MRI showed that the irregular lesions presented uneven and mild enhancement in the arterial stage, and continued to strengthen in the venous phase, and strengthened close to the myometrium in the delayed phase. Primary YST of the endometrium should be considered if MRI scans show an irregular lesion in the myometrium with high level of alpha-fetoprotein (AFP).

Clinical characteristics and prognostic factors of male yolk sac tumor: a Surveillance, Epidemiology, and End Results program study.

Yolk sac tumor (YST) is a rare malignant germ cell tumor, which usually affects young males. Because of the low incidence, few studies on YST have been published. In our study, we aim to investigate the clinical characteristics, survival and risk factors of male YST patients based on the Surveillance, Epidemiology, and End Results (SEER) program. We identified 569 male YST patients from the SEER-18 database with additional treatment fields. Clinical characteristics, survival and prognostic factors were described in the study. Chi-square tests were applied to analyze categorical and continuous variables between different groups. Univariate and multivariate Cox proportional hazard model were performed to assess the relative impacts of risk factors on cancer-specific survival (CSS) in YST patients. Kaplan-Meier method and the log-rank test were used to analyze differences in survival that were significant. The major primary sites of YST were testis (74.69%), mediastinum (15.47%), retroperitoneum (2.64%) and central nervous system (1.24%). The 3-year and 5-year CSS was 70.0%, 56.5% vs. 97.2%, 96.0% for the mediastinal and testicular YST patients, respectively (p < 0.001). Primary site of mediastinum, distant SEER Summary stage were independent factors of poor prognosis (hazard ratio (HR) = 2.010 (1.094-3.695), p = 0.025; HR = 6.501 (2.294-18.424), p < 0.001, respectively). Receiving surgery was a good prognosis factor for all patients (HR = 0.495 (0.260-0.940), p = 0.032) and for the mediastinal group (p = 0.0019). Being treated with chemotherapy indicated poor outcome in all patients (HR = 3.624 (1.050-12.507), p = 0.042) and in the localized testicular YST patients (p = 0.0077). For the first time, our study revealed the primary site distribution of male YST, and summarized the clinical characteristics, survival and prognostic factors based on the SEER database, which provided important epidemiological evidence for clinical practice.

Clinicopathological factors and prognosis analysis of 39 cases of non-gestational ovarian choriocarcinoma.

Non-gestational ovarian choriocarcinoma (NGOC) is a rare malignant germ cell tumor. Through literature review and cases collection, we aim to analyze prognostic factors for NGOC and summarize its clinicopathological characteristics to guide the individualized treatment. We searched PubMed database, Cochrane library, and Google Scholar for cases published between January 1, 1967 and July 31, 2018 using various search terms. We retrieved patients' clinicopathological characteristics, treatment, and prognosis information from included studies. These patients were divided into two groups: died (case group) or alive (control group) group. We summarized and compared their clinical (age, symptoms, R0 resection, serum HCG levels, chemotherapy regimen) and pathological (pure vs non-pure type, tumor size, tumor location, metastasis sites, stage) features by statistical analysis. Only 39 patients were retrieved from 36 studies in total. The median age was 30years (range 12- to 65-years old). The peak incidence was in the adolescent age 12-25years. Median follow-up was 20.3months (range 1-84months). 9 (23%) patients died; 24 (62%) patients were alive; 6 (15%) were lost to follow-up. Upon univariate analysis, we found age had a poor impact on overall survival (OS) in NGOC, HR -0.057, 95% CI -0.111 to -0.004. Pure type NGOC has a better OS than mixed type, HR -2.621, 95% CI -4.577 to -0.666. R0 resection is a good prognostic factor for OS, HR 2.967, 95% CI 0.709-5.224. Clinicians should try to achieve R0 resection to improve the prognosis for NGOC patients even among advanced patients.

Vaginal Yolk Sac Tumors: Our Experiences and Results.

Vaginal yolk sac tumors (YSTs) are rare malignant germ cell tumors largely affecting children younger than 3 years. Because of their low incidence, there is no consensus regarding diagnosis and treatment. In this article, we describe the presentation, diagnosis, treatment, and outcomes of 16 patients with vaginal YSTs diagnosed and managed at our center. Diagnoses of YST of the vagina were confirmed by 2 experienced pathologists. All patients were treated with bleomycin, etoposide, and cisplatin (PEB) combination chemotherapy alone. Complete remission (CR) was defined by a normal serum α-fetoprotein (AFP) level, no tumor detected on computed tomography, and negative pathology results. Biochemical CR (bCR) was defined by a normal serum AFP level. Long-term follow-up was completed according to our regulations. The median age of patients at diagnosis was 10 months (range, 5-44 months), and all patients presented with abnormal vaginal bleeding and/or vaginal discharge. Serum αAFP is a sensitive tumor marker, and it was markedly elevated in all patients (median 4848 ng/mL; baseline at our hospital is <20 ng/mL). Thirteen patients completed a chemotherapy regimen consisting of PEB alone without surgery. Importantly, all patients achieved CR. Patients received additional cycles of consolidation chemotherapy after bCR and there are no cases of recurrence to date. We propose a contemporary treatment strategy in line with current practice. First, all suspected cases of vaginal YST should be diagnosed by histopathological examination and serum AFP levels. Second, nonsurgical treatment with PEB chemotherapy should be initiated until patients achieve bCR, followed by an additional 2 cycles of consolidation therapy to optimize results and reduce the risk of remission.

Primary cerebellar endodermal sinus tumor: A case report.

Endodermal sinus tumors are rare malignant germ cell tumors that usually originate from the gonads and are rarely observed extragonadally. Pure primary endodermal sinus tumors of the cerebellar hemisphere are extremely rare and patients diagnosed with the disease often have a poor prognosis. The symptoms of YSTs are unspecific and associated with the location of tumors. Intracranial YSTs (such as cerebellar hemispheres) always present with symptoms including headache and poor vision. The present study reports the case of a three-year-old male who presented to The First Affiliated Hospital of Nanchang University (Nanchang, China) with a headache that had persisted for one month, and then worsened for the last 10 days. This was accompanied by vomiting and gait disturbance. An abnormal signal mass was identified in the left cerebellar hemisphere on brain magnetic resonance imaging. The case initially presented as a medulloblastoma and the patient was followed up for six months. The final pathology report revealed an endodermal sinus tumor, also known as a yolk sac tumor. Six months following resection of the left cerebellar tumor, the patient succumbed to recurrence of the disease, due to acute vomiting and severe headache.

Primary yolk sac tumor of the retroperitoneum: A case report and review of the literature.

Yolk sac tumor (YST), also known as an endodermal sinus tumor, is a rare malignant germ cell tumor. Primary retroperitoneal YST (PRYST) is extremely rare and, to the best of our knowledge, has only been described in case reports. The histogenesis of PRYST and the appropriate treatment strategy remain unclear due to the rarity of this type of tumor. The present study reports a case of YST in the retroperitoneum. A 19-year-old female presented with abdominal distension and edema of the lower limbs. A computed tomography scan revealed a large, solid mass located in the retroperitoneum. The tumor size was 20×25×30 cm and widespread metastasis was identified during the exploratory laparotomy. The postoperative histopathology report showed a malignant retroperitoneal tumor (although a YST was initially considered). The patient underwent three surgical procedures and 17 cycles of five different chemotherapy regimens. The patient succumbed to cachexia, which was due to tumor recurrence, and liver and spleen metastases 21 months after diagnosis. PRYST may relapse following surgical treatment; however, surgical resection is currently the optimal treatment method. In this case, bleomycin, etoposide and cisplatin; bleomycin, vincristine and cisplatin; and vincristine and cisplatin chemotherapy regimens were effective for the patient with PRYST, although the tumor was not completely resected. α-fetoprotein (AFP) is an important tumor marker for monitoring PRYST recurrence and observation of elevated serum AFP levels during chemotherapy indicates a poor prognosis.

Endodermal Sinus Tumor of Vagina in Infants

Endodermal sinus tumor (or Yolk Sac tumor) of the vagina is a rare malignant germcell tumor which is seen exclusively in children younger than 3 years of age. We report two cases of endodermal sinus tumor of the vagina. In both cases no radiological investigation was done and serum alpha-fetoprotein was elevated. The histopathological examination of both the tumor masses revealed vaginal endodermal sinus tumor. Periodic-acid-Schiff stain with diastase showed diastase resistant hyaline globules. These findings confirmed the diagnosis of endodermal sinus tumor in both cases. Vaginal endodermal sinus tumor is both locally aggressive and capable of metastasis. The serum alpha-fetoprotein level is a useful marker for diagnosis and monitoring the recurrence of vaginal endodermal sinus tumor in infants. Early detection and therapy is important because of its aggressive nature and good response to chemotherapy.

Primary yolk sac tumor of seminal vesicle: a case report and literature review

BackgroundYolk sac tumor (endodermal sinus tumor) is a rare malignant germ cell tumor arising in the testis or ovary. Extragonadal yolk sac tumor is even rarer and has only been described in case reports. Due to the rarity of the tumors, the appropriately optimal treatment remains unclear. We report a case of yolk sac tumor in the seminal vesicle.CaseA 38-year-old Asian male presented with gross hematuria and hemospermia. Transrectal ultrasound scan showed a solid mass in the left seminal vesicle and the scrotal sonography showed no abnormalities. Bilateral seminal vesicles were resected, and histopathological examination showed a typical pattern of yolk sac tumor (YST). The patient responded poorly to comprehensive treatment of radiotherapy, chemotherapy and surgeries, developed systemic multiple metastases, and died of cachexia one and half years after diagnosis.

Primary yolk sac tumor of omentum: A case report

Yolk sac tumor (YST) is one of the rare malignant germ cell tumor and usually occurs in gonad. Extragondal sites of YSTs are reported in mediastinum, vagina, brain, and retroperitoneum but are extremely rarely in omentum. The clinicopathologic feature of primary omental YST is not well known and there are only 5 cases reported currently. Recently we experienced a primary YST of omentum in 27-year-old woman who was performed exploratory laparotomy due to abdominal distension and pain. She has remained free of diseases for 2 years with normal menstruation after the fertility-saving surgery and postoperative adjuvant chemotherapy with bleomycin, etoposide, cisplatin regimen. The subject of primary YST of omentum is reviewed, and the possible histogenesis of the tumor is discussed.

Growing Teratoma Syndrome following Immature Teratoma Stage 1A - A Rare Clinical Entity

Immature teratoma of the ovary is a rare malignant germ cell tumor (GCT) which occurs predominantly in children and adolescents and represents I or grade >1. One interesting aspect of follow up after therapy of germ cell tumors especially immature teratoma has been the description of Growing Teratoma Syndrome (GTS). GTS is an extremely rare complication of nondysgerminomatous malignant germ cell tumors characterized by enlarging masses of differentiated teratoma during or after chemotherapy in patients with GCT, associated with normalization of tumor markers. Only 47 cases of GTS following ovarian GCT have been reported so far. Here we discuss a case of GTS in a 22-year-old girl who had underwent conservative surgery for stage IA Ovarian Immature Teratoma followed by chemotherapy 3 years back. Management of case is presented along with review of literature of Growing Teratoma Syndrome.

Malignant Struma Ovarii: Good Response after Thyroidectomy and 131I Ablation Therapy

Malignant struma ovarii is a rare malignant germ cell tumor of the ovary. Due to the rarity of this disease, treatment has not been uniform throughout the published literature. We present three cases of malignant struma ovarii. Following primary surgery, all were subsequently treated with thyroidectomy and (131)I ablation therapy, two patients as first line management, one following the occurrence of metastatic disease. Histological diagnosis of malignant struma ovarii is similar to that of well differentiated thyroid carcinoma (WDTC). In line with the latest advice on treatment of WDTC, we believe that the best option for patients with malignant struma ovarii is surgical removal of the ovarian lesion followed by total thyroidectomy which allows the exclusion of primary thyroid carcinoma, and in addition, allows radioiodine ((131)I) ablation therapy for (micro) metastasis. After thyroidectomy, thyroglobulin can be used as a tumor marker for follow-up. Moreover, nuclear medicine imaging using radioiodine ((123)I) can be performed to demonstrate metastatic carcinoma. A multidisciplinary approach is essential.