Renal Yolk Sac Tumor Clinically Misdiagnosed as Nephroblastoma: A Case Report.

Background: Yolk sac tumor is a germ cell tumor (GCT) that occurs in infants and adolescents and affects various sites. There is a trend to treat pediatric renal tumors before a tissue diagnosis. We report a renal yolk sac tumor clinically misdiagnosed as Wilms tumor, based on ultrasound (US) and MRI.Case Report: This 21-month-old male infant was discovered to have a space occupying lesion in the right kidney. Because the tumor was large, initial radiotherapy preceded surgical resection. Histologically, the tumor was a yolk sac tumor.Conclusion: Imaging examination of renal yolk sac tumor can easily be misdiagnosed as Wilms tumor. SIOP treatment plan for Wilms tumor requires preoperative chemotherapy, which is different from the treatment regimen for yolk sac tumor. Preoperative alpha-fetoprotein could have been helpful in avoiding this clinical misdiagnosis.

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

BACKGROUND: The 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. METHODS: Clinical data of patients with pathologically confirmed primary vaginal EST in our hospital from January 1997 to December 2017 were retrospectively reviewed and analyzed. RESULTS: A 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%. CONCLUSION: Vaginal 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.

Yolk sac tumours of the orbit and sinonasal tract.

PURPOSE: The aim of this study is to report two cases of paediatric Yolk sac tumours (YST) of the orbit and sinonasal tract, with a major review on the subject. METHODS: Two case reports along with a comprehensive retrospective literature review of all English language publications between 1974 and 2021 is presented. Literature review examined the demographics, clinical presentation and diagnostic and prognostic factors of extragonadal YSTs of the orbit and sinonasal tract. RESULTS: Orbit and sinuses are rare sites for YST, with only 25 paediatric cases reported in the literature. Extragonadal yolk sac tumours carry a significantly worse outcome than those localised to the gonads, with the 5-year survival of 66% and 81-89%, respectively. Our review found the median age of presentation to be 18 months (18 months for males and 24 months for females), and females are more commonly affected. The most common presentations were proptosis, facial swelling and ophthalmoplegia. Treatments and therefore outcomes varied in the cases due to the large time period. Of the cases reported in the last 10 years, all patients with data provided were alive and disease-free at follow-up. CONCLUSION: Sino-orbital yolk sac tumours are rare and have variable presentations, dependent on the extent of local invasion. Early diagnosis and treatment with multimodal therapy are paramount in having improved overall survival.

To Transplant or Not to Transplant During the SARS-CoV-2 Pandemic? That Is the Question.

The novel coronavirus disease 2019 has grown to be a global public health emergency. The rapid spread of the infection has raised many questions in the oncohematological scientific community regarding the appropriateness of high-dose chemotherapy with autologous stem cell transplantation (ASCT). We here report two cases of patients who received ASCT at our Institute during the epidemic in Italy, affected with Hodgkin lymphoma and germ cell tumor, respectively. The two patients underwent a nasopharyngeal swab for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) on hospital admittance and during the period of bone marrow aplasia. They were attended to exclusively by dedicated health care staff who followed specifically implemented protocols for bedside nursing and care. They completed the procedure without unexpected side effect. Our experience demonstrates how ASCT can be performed safely if procedures are reorganized ad hoc to reduce the risk of SARS-CoV-2 infection.

Somatically Derived Yolk Sac Tumor of the Ovary in a Young Woman.

Ovarian carcinoma with a somatically derived yolk sac tumor component is a phenomenon known to mostly occur in postmenopausal women. Herein, we report an ovarian endometriosis-associated somatic yolk sac tumor arising in the background of a low-grade endometrioid adenocarcinoma in a young woman. A 27-yr-old woman presented with abdominal pain, subsequently recognized to be caused by a right ovarian mass undergoing torsion. Following operative management, microscopic examination of the salpingo-oophorectomy specimen showed endometriosis and a predominantly cystic ovarian neoplasm with 2 distinct phenotypic areas: (1) a yolk sac tumor component containing Schiller-Duval bodies and (2) a low-grade endometrioid carcinoma component with squamous metaplasia. Immunohistochemical evaluation showed distinct profiles in the yolk sac tumor (estrogen receptor/progesterone receptor/PAX8 negative, SALL4/Glypican 3 positive) and endometrioid (estrogen receptor/progesterone receptor/PAX8 positive, SALL4/Glypican 3 negative) components. Given these findings, the diagnosis of an endometriosis-associated endometrioid adenocarcinoma with a somatically derived yolk sac tumor was rendered. The tumor was staged as pT1c1 due to intraoperative spillage. The patient underwent chemotherapeutic treatment and after 15 mo of follow-up, she was alive with no evidence of recurrence. This example demonstrates that somatic yolk sac tumor differentiation in ovarian epithelial neoplasia can occur in young patients; awareness of this phenomenon is important as somatic and germ cell yolk sac neoplasia have different behavior and therapy.

Multimodal Treatment of Children With Sacrococcygeal Yolk Sac Tumor: Retrospective Analysis of Clinicopathology Characteristics and Relapse-free Survival.

The aim of the study was to explore the clinicopathologic characteristics of sacrococcygeal yolk sac tumor (SYST) associated with relapse and the role of sensitivity to neoadjuvant chemotherapy in predicting outcome. The authors investigated prognostic factors of age, stage, initial tumor size, pathologic response to neoadjuvant chemotherapy, and alfa fetoprotein. A total of 26 patients with SYST were enrolled. Neoadjuvant chemotherapy was administered to 20 cases. Six patients underwent resection as initial therapy. Recurrence occurred in 12 patients. Nine patients with specimens exhibiting no malignant component after chemotherapy did not experience recurrence. By contrast, relapses occurred in 7 of 11 patients with viable residual tumor after neoadjuvant chemotherapy. All relapsed patients still achieved partial remission or complete remission after salvage therapy. Five-year relapse-free survival and overall survival rates were 55.2% and 100%, respectively (median follow-up, 59.5 mo; range, 16 to 155). Patients with complete necrosis after neoadjuvant chemotherapy had a better outcome compared with children with viable residual tumor. Relapse-free survival of pediatric SYSTs in this cohort were still low and warrants the multidisciplinary effort.

Need for risk-adapted therapy for malignant ovarian germ cell tumors: A large multicenter analysis of germ cell tumors' patients from French TMRG network.

BACKGROUND: Malignant ovarian germ cell tumors are rare tumors, affecting young women with a generally favorable prognosis. The French reference network for Rare Malignant Gynecological Tumors (TMRG) aims to improve their management. The purpose of this study is to report clinicopathological features and long-term outcomes, to explore prognostic parameters and to help in considering adjuvant strategy for stage I patients. PATIENTS AND METHODS: Data from patients with MOGCT registered among 13 of the largest centers of the TMRG network were analyzed. We report clinicopathological features, estimated 5-year event-free survival (5y-EFS) and 5-year overall survival (5y-OS) of MOGCT patients. RESULTS: We collected data from 147 patients including 101 (68.7%) FIGO stage I patients. Histology identifies 40 dysgerminomas, 52 immature teratomas, 32 yolk sac tumors, 2 choriocarcinomas and 21 mixed tumors. Surgery was performed in 140 (95.2%) patients and 106 (72.1%) received first line chemotherapy. Twenty-two stage I patients did not receive chemotherapy. Relapse occurred in 24 patients: 13 were exclusively treated with upfront surgery and 11 received surgery and chemotherapy. 5y-EFS was 82% and 5y-OS was 92.4%. Stage I patients who underwent surgery alone had an estimated 5y-EFS of 54.6% and patients receiving adjuvant chemotherapy 94.4% (P < .001). However, no impact on estimated 5y-OS was observed: 96.3% versus 97.8% respectively (P = .62). FIGO stage, complete primary surgery and post-operative alpha fetoprotein level significantly correlated with survival. CONCLUSION: Adjuvant chemotherapy does not seem to improve survival in stage I patients. Active surveillance can be proposed for selected patients with a complete surgical staging.

Extragonadal Yolk Sac Tumor Limited to the Myometrium: Report of a Case With Potential Fertility Preservation and Molecular Analysis Suggesting Germ Cell Origin.

Extragonadal pelvic yolk sac tumor (YST) in postpubertal female patients is a rare malignant neoplasm with potentially 2 distinct histogenetic pathways, and no clear treatment algorithm, especially in young patients desiring future fertility. Here we report a case of extragonadal YST arising within the myometrium in a 30-yr-old nulligravid woman. The patient presented with heavy and irregular bleeding, and imaging studies showed an 8.2 cm uterine mass, most consistent with a degenerating uterine leiomyoma. The patient underwent abdominal myomectomy, and intraoperative frozen section evaluation revealed a high-grade malignancy. Because of the patient's strong desire for future fertility, a conservative wedge resection of the surrounding myometrium and surgical staging with uterine closure and retention of the ovaries were performed. On permanent sections the tumor showed an admixture of glandular, reticular, solid and papillary architectural patterns, moderate to marked nuclear atypia and clear cytoplasm with focal eosinophilic hyaline globules. Immunohistochemical stains were diffusely positive for SALL4, AFP, glypican3, and focally positive for CK20, and negative for EMA, and CK7, confirming the diagnosis of extragonadal YST. The endometrium displayed normal secretory phase morphology without involvement by YST, and the myometrial resection margins were negative. Short tandem repeat genotyping analysis of the tumor revealed allelic gains at 7 loci (involving chromosomes 2, 3, 4, 5, 8, 13, and 15) and allelic loss at one locus assessed on chromosome 11, while next-generation sequencing results showed no mutations in 155 genes tested, suggesting germ cell origin. The patient underwent 4 cycles of adjuvant chemotherapy with bleomycin, etoposide, and cisplatin, and she had 1 cycle of successful oocyte cryopreservation 6 months after completing chemotherapy. The clinical follow-up at 12 mo shows no evidence of disease.

[Clinical characterization of testicular yolk sac tumor in children and adults].

OBJECTIVE: To compare the clinical characteristics of simple testicular yolk sac tumor (YST) in children with those in adults so as to improve the diagnosis and treatment of the malignance. METHODS: This study included 75 cases of simple testicular YST pathologically confirmed between May 2008 and July 2018, which were divided into groups A (aged <18 years, n = 64) and B (aged ≥18 years, n = 11). We analyzed the clinical data on all the cases and compared the clinical manifestations, laboratory results, pathological findings, clinical stages, treatment methods and prognostic outcomes between the two groups of patients. RESULTS: The patients of group A ranged in age from 6 months to 5 years (ï¼»1.38 ± 0.89ï¼½ yr), with the tumor diameter of 0.9－6.0 (2.48 ± 1.12) cm, while those of group B from 25 to 49 years (median 34 years), with the tumor diameter of 3.5－6.3 (5.16 ± 1.32) cm, most presenting with a painless scrotal mass, 4 (6.2%) in group A and 5 (45.5%) in group B with testis pain. There were statistically significant differences between the two groups in the tumor diameter and initial manifestations (P < 0.05). All the patients were treated by radical high-level spermatectomy and orchiectomy and, in addition, 1 in group A and 3 in group B by retroperitoneal lymph node dissection (RPLND), 24 in the former and 5 in the latter group followed by chemotherapy. Elevated levels of serum alpha-fetoprotein (AFP) were observed in all the cases. Sixty-five of the patients were followed up for 10－78 (52.00 ± 23.78) months, during which 2 cases of simple metastasis, 3 cases of simple relapse, 3 cases of relapse with metastasis and 5 cases of death were found in group A, and 5 cases of simple metastasis, 1 case of simple relapse, 1 case of relapse with metastasis and 4 cases of death in group B. CONCLUSIONS: There are significant differences in the clinical manifestation, biological behavior, treatment and prognosis of testicular YST between children and adults. In children, most of the testicular YST cases are at clinical stage I and preferably treated by radical high-level spermatectomy and orchiectomy with favorable prognosis. In adults, however, the tumor is highly malignant, with high incidences of recurrence and metastasis and poor prognosis, for the treatment of which the first choice is radical high-level spermatectomy and orchiectomy combined with RPLND and chemotherapy.

Management and prognosis of ovarian yolk sac tumors; an analysis of the National Cancer Data Base.

OBJECTIVE: To evaluate the clinico-pathological characteristics, management and prognosis of women diagnosed with ovarian yolk sac tumors (OYSTs). METHODS: The U.S National Cancer Data Base was queried for women diagnosed with OYST between 2004 and 2014. Overall survival (OS) was calculated following generation of Kaplan-Meir curves. Univariate analysis was performed with the log-rank test. A Cox model was constructed to determine independent predictors of mortality. RESULTS: A total of 561 women were identified with a median age of 23years. The majority (58.5%) had early stage (I-II), while 29.6% and 11.9% had stage III and IV disease respectively. Five-year OS for women with stage I, II, III and IV disease were 94.8%, 97.1%, 70.9% and 51.6% respectively, p<0.001. Better 5-yr OS was observed for adolescents (94.4%) and young adults (89.3%) compared to older premenopausal (67.6%) and postmenopausal women (30.6%), p<0.001. Omentectomy, hysterectomy and lymph node sampling/dissection (LND) were not associated with better OS. Women who received adjuvant chemotherapy had superior OS compared to those who did not, p=0.016. Early disease stage, younger age and receipt of adjuvant chemotherapy, but not LND were independently associated with better mortality. CONCLUSIONS: Women with OYST commonly present with early stage disease. Administration of adjuvant chemotherapy, early stage and younger age are associated with superior outcomes.

A Case of Urachal Yolk Sac Tumor With Spontaneous Rupture in a Child.

Tumors arising from urachus in children are exceedingly rare and sporadically reported in literature. Being a midline structure, the urachus may harbor neoplastic germ cell elements and can occasionally present as a case of acute abdomen. A 20-month-old toddler presented with spontaneous rupture of an urachal yolk sac tumor causing hemoperitoneum. He underwent resection, received platinum-based chemotherapy and presently remains well on follow-up. Despite its rarity, urachal germ cell tumors must be considered in a child with acute abdomen and tumor markers must be measured preemptively in such cases.

Advanced stage yolk sac ovarian tumour: clinical approach with cytoreductive surgery upfront.

The authors report the case of a 21-year-old woman that presented a Pseudo Meigs' syndrome, secondary to a pure endodermal sinus tumour (yolk sac tumour). Fine needle aspiration biopsy was compatible with high-grade carcinoma and the alpha fetoprotein (αFP) was at 13,185 U/ml. Cytoreductive surgery was performed, followed by bleomycin, etoposide, and cisplatin (BEP) chemotherapy.

Primary orbital yolk sac tumor: report of a case and review of literature.

Germ cell tumor can affect extragonadal sites. Teratoma is a well-recognized extragonadal tumor in the orbit. Primary yolk sac tumor (YST) or endodermal sinus tumor of orbit is rare and only few cases have been reported in the literature. Its clinical presentation may mimic many common pediatric orbital conditions, and delay in diagnosis affects ocular morbidity and mortality. In the past orbital YST has been treated with multimodal therapy including surgery, systemic chemotherapy, and radiotherapy. Herein we describe a case of primary orbital YST and reviewed the literature for similar cases. The review aims to describe the clinical presentation, imaging features, histopathological characteristics, and management of orbital YST.

[A case report for primary yolk sac tumor of endometrium].

A case of primary yolk sac tumor of endometrium was retrospectively analyzed and relevant literature was systematically reviewed. We found that the primary yolk sac tumor of endometrium showed low incidence rate and was clinically characterized by abnormal vaginal bleeding, intrauterine lesions and significantly elevated alpha-fetoprotein (AFP) level. The final diagnosis should be confirmed by pathological examination. There is no guideline for the treatment of primary yolk sac tumor of endometrium due to its rareness. For now, surgery and chemotherapy are the major therapies and the curative effect is satisfactory in some cases.

Primary yolk sac tumor of endometrium: report of two cases and review of literature.

Primary YST of the endometrium is very rare, therefore there is no guideline for treatment. We report two cases of endometrial YSTs presenting different symptoms and showing different prognoses and discuss the clinical management of these tumors. The present report shows first time that bone and lung metastasis in primary YSTs of endometrium. As the number of reported cases with endometrial YSTs, more information about the prognosis of the disease may be obtained.

Pediatric Vaginal Yolk Sac Tumor: Reappraisal of Treatment Strategy in a Rare Tumor at a Unique Location.

Review of the management of 6 young girls with vaginal yolk sac tumor over 25 years showed that the α-fetoprotein levels normalized in 5/6 within 4 cycles of primary cisplatin, bleomycin, etoposide (PEB)/carboplatin, etoposide, bleomycin (JEB)/cisplatin, vinblastine, bleomycin (PVB) chemotherapy. Radioimaging revealed residual tissue but viable tumor was found in only 1 of 2 biopsied. Resection/biopsy is necessary to avoid giving additional primary chemotherapy or to identify patients who need different treatment. If markers do not decay appropriately, PEB/JEB/PVB chemotherapy should not be continued. Taxol-containing salvage chemotherapy regimens, adjuvant modern radiotherapeutic treatment, and fertility-saving curative surgery should then be considered. Despite having mostly advanced disease, 5/6 patients were cured, 2 with chemotherapy alone.

Endoscopic surgery combining chemotherapy for vaginal yolk-sac tumor: a case report.

PURPOSE OF INVESTIGATION: To report and explore the effectiveness of the endoscopic surgery combining cisplatin, etoposide, and bleomycin (PEB) chemotherapy in treating vaginal yolk-sac tumor. CASE REPORT: The clinical case of vaginal yolk-sac tumor in a young girl was analyzed. Hysteroscopy equipment was used to inspect and remove the majority of the tumor tissue, followed by six cycles of PEB chemotherapy. Hysteroscopy equipment was used again to exam the vagina and remove of the tumor pedicle for biopsy, which revealed no tumor cells after two cycles of chemotherapy. The patient remained disease free on follow up for a year. CONCLUSION: The use hysteroscopy equipment to exam vagina can diagnose early vaginal yolk-sac tumor and cytoreductive surgery which can preserve fertility can then be performed. Cytoreductive surgery may also be able to reduce the cycles of the chemotherapy to reduce the side effects and the risks of chemotherapy.

Germ cell tumors in atypical locations: experience of the TGM 95 SFCE trial.

The yolk sac tumor is one of the most common malignant germ cell tumors in young children and typically occurs in the gonads. We report 6 cases of children less than 30 months old with extragonadal atypical locations of yolk sac tumor. These rare diagnoses were established by raised serum α-fetoprotein levels and biopsies. These patients were treated according to the French TGM 95 trial. All the patients are alive disease-free after ≥2.5 years of follow-up. We want to highlight the importance of measuring the α-fetoprotein levels in very young children presenting with any midline tumor, even if the tumor is not located in the typical extragonadal sites such as the sacrococcyx, mediastinum, retroperitoneum, or vagina.