Retroperitoneal yolk sac tumour encroaching the liver and adrenal gland with tumour thrombus in cavo-atrial region and hepatic veins.

Paediatric germ cell tumours (GCT) are rare tumours and are unique because of varied clinical presentation and locations. Yolk sac tumour is the predominant malignant histology and a serum marker; alpha fetoprotein is used to see treatment response and recurrent disease. It is extremely rare to find a retroperitoneal GCT with tumour thrombus extending up to the cavo-atrial region with involvement of the hepatic veins. We report a case of retroperitoneal yolk sac tumour (RPYST) with extension to the liver and right adrenal gland along with tumour thrombus in the inferior vena cava and in the right and middle hepatic veins. The child was operated after satisfactory response to chemotherapy. Excision of the tumour along with the right adrenal gland and around 5 cm of retro-hepatic caval resection was done. Inferior vena cava resection was tolerated without reconstruction. Currently child is disease-free and symptom-free at 22 months of follow-up with normal serum marker.

Yolk Sac Tumour Arising in the Glans Penis an Achondroplasic Child: A Case Report with Summary of Prior Published Cases.

BACKGROUND: Yolk sac tumors (YST) are commonly encountered gonadal germ cell tumors in children, especially in the prepubertal age group. In addition to gonadal primary, it can occur in multiple extragonadal sites, of which sacrococcygeal, retroperitoneum, gastric and mediastinum are the commonest. There are 4 previous reports of primary penile YST. CASE REPORT: We describe a primary penile yolk sac tumor in a child with achondroplasia. CONCLUSION: Yolk sac tumor can occur in the penis during the prepubertal period. Penile yolk sac tumor associated with achondroplasia has not been previously reported, but this could be incidental.

Cases of Yolk sac tumor associated with gynecological malignant tumor.

BACKGROUND: Yolk sac tumour (YST) is the second most common ovarian germ cell tumour and usually presents in children and young women. However, tumours rarely occur as malignant gynaecological tumours with YST components. CASE PRESENTATION: We present one case of endometrioid carcinoma and clear cell carcinoma with YST components and two other cases of YSTs associated with high-grade serous carcinoma of the ovary in females. After surgery and adjuvant chemotherapy, the patient with endometrioid carcinoma had progressive disease and died 20 months later, and the other two were still alive at the last follow-up. CONCLUSIONS: To our knowledge, these mixed neoplasm associations are unusual, and these cases illustrate the diagnosis and prognosis of YST associated with malignant gynaecological tumours, emphasizing early recognition and aggressive treatment.

First case of endometrial cancer after yolk sac tumor in a patient with Li-Fraumeni syndrome.

BACKGROUND: Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disease with high penetrance caused by a germline variant of TP53 gene. We report the first case of endometrial cancer after yolk sac tumor with LFS. CASE PRESENTATION: The presented female patient underwent right adnexectomy at age 23 because of a yolk sac tumor of the ovary. At the age of 27, the patient was diagnosed with endometrial adenocarcinoma, received cytoreductive surgery and chemotherapy. Given that her personal cancer history along with a strong family history of cancer, her father passing away from lung cancer at age 48 and her grandmother dying of ovarian cancer at age 50, the patient was referred for genetic counseling and testing. Genetic screening revealed a heterozygous pathogenic TP53 c.844C > T, p.( R282 W) with NM_000546.5 variant, a class 5 (C5) variant. This is the first reported case of a yolk sac tumor accompanied by subsequent endometrial cancer that is associated with LFS. CONCLUSIONS: We reported a first case of an endometrial cancer after yolk sac tumor patient with a tumor family history of harboring the germline TP53 pathogenic variation which expanded types of tumor that can be presented in patients with LFS. This case highlights the importance of genetic testing for patients with malignant tumors, as well as patients with a family history of malignant tumors. And our case highlights the necessity of screening for gynecologic tumor in LFS patients.

A Rare Case of Post-pubertal Pure Yolk-sac Tumour Incidentally Diagnosed after Surgical Intervention for Fournier's Gangrene.

The testicular tumour is the most common solid malignancy in males between the ages of 15 and 35 years. Testicular tumours most commonly present with a painless testicular mass. Fournier's gangrene is necrotising fasciitis of the genital, perineal, and perianal region characterized by the microvascular thrombosis and skin necrosis, and is most commonly seen in elderly males with the comorbid conditions. To the best of our knowledge, there is no published case of testicular tumour presenting as Fournier's gangrene. Herein, we report a case of a young adult male, otherwise healthy, who presented to the emergency room with Fournier's gangrene and was found to have a metastatic post-pubertal pure yolk-sac tumour of the testis which is extremely rare in the adults. Key Words: Fournier's gangrene, Yolk sac tumour, Testicular neoplasm.

Yolk Sac Tumor in an Infant with Androgen Insensitivity Syndrome: A Case Report and Review of the Literature.

Background: Androgen insensitivity syndrome (AIS) is a disorder of sexual differentiation caused by complete or partial resistance to the biological action of androgens. The common malignant tumors associated with this syndrome are seminomas. However, the risk of malignancy in childhood remains low. Case Report: A 8-month-old child with a female phenotype and a 46, XY karyotype, presented with bilateral inguinal hernia. The patient underwent right radical inguinal orchiectomy with high ligation of the spermatic cord and laparoscopic percutaneous extra-peritoneal herniorrhaphy. Final pathology confirmed a pure yolk sac tumor (YST) from the right testis. Androgen receptor (AR) gene mutation was found in the children. The follow-up ultrasonography shown no recurrence, with serum AFP returned to normal within 3 months. Conclusion: The case we presented is relatively infrequent in the literature with yolk sac tumor in a AIS children presented with a palpable lump inguinal region.

The clinical features and prognostic outcomes of primary mediastinal yolk sac tumors: A retrospective analysis of 15 rare cases from multiple centers.

ABSTRACT: Primary mediastinal yolk sac tumors (PMYSTs) are a rare occurrence. As such, the clinicopathological features, treatment, and prognosis, of this disease still remain unclear. In this study, we aimed to provide further information relating to this rare malignancy in order to facilitate the creation of more specific clinical guidelines for the diagnosis and treatment of patients with PMYSTs.In this retrospective study, we recruited 15 patients who had been diagnosed with PMYST from four medical institutions to create a population-based cohort. We then used Kaplan-Meier analysis and the log-rank test to investigate and compare overall survival (OS) and progression-free survival (PFS).A total of 15 cases were identified. The mean age was 27.3 years (range: 19-34 years). The estimated 1- and 2-year PFS rates were 66.7% and 60.0%, respectively. The 1- and 2-year OS rates were both 73.3%. Computer tomography scans revealed tumors were located in the anterior middle mediastinum (5 cases), the anterior superior mediastinum (1 case), the left anterior mediastinum (3 cases), and the right anterior mediastinum (6 cases). Of the 15 patients receiving extended resections, the majority (40.0%) underwent tumor resection, partial pericardiotomy, pulmonary wedge resection, and mediastinal lymphadenectomy. R0 resections were achieved in eleven patients. Four patients underwent R2 resection and experienced postoperative complications, including pneumonia (2 cases), atelectasis (1 case), and bronchopleural fistula (1 case). Four patients developed postoperative lung metastasis. Three patients died due to progressive diseases. Disease recurred in all patients at a median of 8.0 months (range: 6.0-11.0 months).PMYST is a rare but highly malignant tumor with a poor prognosis. Tumor resection, with optimal extended surgical management, may provide patients with the best chance of a cure although postoperative complications relating to the pulmonary systems should be treated with caution.

Primary yolk sac tumor of pterygopalatine fossa with loss of vision: A case report.

INTRODUCTION: Primary yolk sac tumor (YST) is an infrequently-diagnosed malignant extragonadal germ cell tumors. It is likely to recur locally and may present with widespread metastases once diagnosed. Primary YST of the head is uncommon but can cause severe complications, such as loss of vision once the tumor mass invades the optic nerve. PATIENT CONCERNS: A 20-month-old boy presented to the general clinic of the local children's hospital with a complaint of swelling of left face for 1 year and proptosis of the left eye for over 2 weeks as stated by his parents. Initially, he did have some vision, as he could walk by himself, but a special ophthalmologic examination was not performed. DIAGNOSES: Cranial computed tomography and magnetic resonance imaging revealed a large tumor accompanied by peripheral bone destruction in the left pterygopalatine fossa that extended to sphenoid, ethmoid, left maxillary sinuses, left nasoethmoid, and left orbit. The optic nerve was invaded on both sides. Chest and abdominal imaging were normal. A primary diagnosis of Langerhans cell hyperplasia was made. However, blood tests on the second day of hospitalization revealed significantly elevated serum alpha-fetoprotein levels. On the third day, the boy lost his eyesight, with loss of pupillary and no light sensation during flashlight stimulation on both sides. INTERVENTIONS: Nasal endoscopy was performed on the fourth day, the vast majority of soft tissue mass was resected for biopsy. Histopathological examination revealed features of endodermal sinus tumor. A final diagnosis of primary YST of pterygopalatine fossa was made. Because the mass could not be resected completely, he received combined chemotherapy with bleomycin, etoposide, and carboplatin for 6 cycles over six months. OUTCOMES: The patient recovered with significant tumor shrinkage and without secondary metastasis after 18 months but left permanently blind. CONCLUSION: The worst complication of loss of vision after Primary YST of pterygopalatine fossa alerts us that close physical examination during the initial investigation should be performed, which is especially important in young children who cannot express complaints well. Early detection and treatment with surgical resection and chemotherapy may contribute to satisfactory outcomes and avoidance of visual impairment.

Successful treatment of a primary thoracic dumb-bell yolk sac tumor presenting with severe spinal cord compression: Case report.

RATIONALE: Primary thoracic dumb-bell yolk sac tumor (YST) with both epidural and extraspinal extension is a rare disease with no standard curative managements yet. The objective of this study is to report a primary thoracic dumb-bell YST presenting with severe spinal cord compression successfully treated with posterior-only approach operation, followed by chemotherapy. The management of these unique cases has not been fully documented. PATIENT CONCERNS: A 26-mounth-old, previously healthy girl presented with progressive numbness and weakness of the lower extremities. Neurological examination revealed paralysis of both lower extremities, sensory disturbance below T-8 and bladder-bowel dysfunction. DIAGNOSIS: CT and MRI of spine showed a dumb-bell mass lesion with both epidural and extraspinal extension through enlarged intervertebral foramina and marked spinal cord compression at T7-T9. The AFP level was 13738 ng/ml. Preoperative puncture and Postoperative pathology confirmed the diagnosis of YST. INTERVENTIONS: By needle biopsy, we identified the pathological diagnosis is YST. Subsequently, the patient was treated with one-stage posterior-only approach operation, followed by 9 courses of chemotherapy based on cisplatin, bleomycin, etoposide. OUTCOMES: The patient has a complete neurologic recovery and remains recurrence free as of more than 2 years after the completion of operation. There were no other complications associated with the operation during the follow-up period. LESSONS: YST should be considered in the range of children with thoracic dumb-bell tumor presenting with spinal cord compression. Needle biopsy is valuable for preoperative diagnosis and design of the treatment strategy. If there is no evidence of CSF spread, metastasis or multiple diseases, it is effective to remove tumors as thoroughly as possible immediately, avoid further nerve injury and conduct enough chemotherapy. This case suggests that this treatment strategy is an effective option for primary YST with both epidural and extraspinal extension and severe spinal cord compression.

Adult-Onset Mixed Germ Cell Tumor Composed Mainly of Yolk Sac Tumor Around the Pineal Gland: A Case Report and Review of the Literature.

BACKGROUND: Mixed germ cell tumors (MGCTs) usually occur in children. In the present report, we discuss an extremely rare case of adult-onset MGCT composed mainly of yolk sac tumor (YST) around the pineal gland. CASE DESCRIPTION: A 54-year-old Japanese man presented with disturbance of consciousness, Parinaud's syndrome, and gait disturbance. Magnetic resonance imaging revealed a pineal mass lesion, and subtotal resection of the tumor was achieved. The histologic diagnosis was MGCT, consisting mainly of YST. Although he underwent 5 courses of chemotherapy and craniospinal irradiation after surgery, tumor dissemination could not be controlled, and he died 10 months postoperatively. CONCLUSION: The present case highlights the need for clinicians to include YST in the differential diagnosis of acute progressive lesions around the pineal region, even in adult patients.

Pure yolk sac tumour, post-pubertal type, arising from cryptorchid testes.

Yolk sac tumour (YST), the most common germ cell tumour (GCT) in infants and children, accounts for 80% of GCTs in this age group. 1 It is observed in only 2.4% of adult patients in their pure form since up to 42% of mixed GCTs have some component of the yolk sac. 2 We present a 46-year-old cryptorchid man who presented with complaints of abdominal lump, pain and altered bowel habits since 1 month. CT scan of the abdomen revealed a mass arising from the pelvic cavity with feeders predominantly from the left gonadal vessel. Mass was excised via exploratory laparotomy and sent for histological examination. Microscopic examination was suggestive of pure YST. Immunohistochemistry stained positive for cytokeratin, placental-like alkaline phosphatase, Glypican 3 and alpha fetoprotein. The patient succumbed prior to commencing chemotherapy. Pure YSTs of post-pubertal origins are extremely rare and are more aggressive than their prepubertal counterparts.

A case of malignant rhabdoid tumor mimicking yolk sac tumor.

Malignant rhabdoid tumors (MRTs) are rare, highly aggressive embryonal neoplasms caused by biallelic alterations of the SMARCB1 gene. MRTs may occur in any soft tissue, but extracranial extrarenal MRTs are extremely rare. Diagnosis of MRTs in unusual locations and with an uncharacteristic cytomorphology that mimics other tumors is difficult. This was an atypical case of MRT in a 15-year-old female with tumors that closely resembled yolk sac tumors. It was extremely challenging to diagnose the tumors without confirming the SMARCB1 status.

Virilization in a Girl Caused by an Ovarian Yolk Sac Tumor: A Case Report.

BACKGROUND: Yolk sac tumors (YSTs) are rare malignancies that originate from germ cells and rarely present with endocrine symptoms. We report a case of a 13-year-old girl with a YST manifesting as virilization. CASE: A 13-year-old girl was diagnosed with a YST with endocrine symptoms because of Leydig cells in the stroma, which were identified using hematoxylin and eosin staining and immunohistochemistry. SUMMARY AND CONCLUSION: This case suggests that clinicians should consider the possibility of YST when encountering patients with symptoms of virilization. When a YST is found to have endocrine function, a functioning stroma could present. Immunohistochemistry is useful for identifying stromal cells and performing a differential diagnosis.

Acute abdominal pain in an adolescent girl with an ovarian yolk sac tumor.

Yolk sac tumor (YST) is a rare tumor that usually occurs in the first two decades of life. It is considered the second most common malignant germ cell tumor of the ovary, characterized by a rapid growth and a bad prognosis due to the frequent metastasis. We report the case of a 12-year-old girl who came to our observation for an acute abdominal pain. Clinical examination evidenced a vague mass in the suprapubic region and a lower abdomen tenderness, the US imaging revealed a complex lesion of the left ovary (19 x 13 cm) and the alpha-fetoprotein (AFP) resulted high (5858 ng/mL). Computed tomography (CT) revealed a large pelvic mass. The treatment consisted of debulking surgery of yolk sac tumor followed by 4 cycles of BEP protocol (Bleomycin, Etoposide, Cisplatin). After 3 years of follow-up there was no evidence of disease recurrence. (www.actabiomedica.it).

Right Ventricular Heart Failure from a Cardiac Yolk Sac Tumor.

BACKGROUND Cardiac involvement by a malignant tumor is rare. However, this is a case of right heart failure due to cardiac metastasis from a yolk sac tumor. Although a few case reports of cardiac metastasis from yolk sac tumors have been published, to our knowledge this is the first instance of multiple metastases to the right ventricular of yolk sac tumor in an adult male. CASE REPORT The patient is a 46-year-old male with a history of testicular cancer that presented with dyspnea on exertion. He was found to have two large right sided intracardiac masses on echocardiography. Cardiac magnetic resonance imaging (MRI) was obtained to further investigate these masses. Right ventricular function was decreased and concern for right ventricular outflow tract (RVOT) obstruction was present. The patient was taken to the operating room (OR) for resection of the cardiac masses. Pathology revealed the masses to be yolk sac tumors. Despite urgent resection of the tumors, the patient deteriorated clinically, ultimately succumbing to heart failure. CONCLUSIONS This unique presentation of a yolk sac tumor emphasizes the need to keep a broad differential and complete a thorough workup for any cardiac mass. Early diagnosis and treatment of intra-cardiac masses is imperative due to their high rates of mortality. Albeit an uncommon etiology for heart failure, germ cell tumors can potentially metastasize to the heart and present with such a clinical picture.

Living donor liver transplantation in a pediatric patient with preexisting yolk sac tumor.

There is ongoing discussion regarding the indications and timing of LT for patients with a preexisting extrahepatic malignancy. We herein report a pediatric case that underwent LDLT after therapy for YST. The patient, a 13-year-old female with biliary atresia, had undergone portoenterostomy at 2 months of age. She developed a left ovarian tumor with a high serum alpha-fetoprotein concentration at 10 years of age. She underwent left oophorectomy and was diagnosed with ovarian YST (Stage I). After surgery, hepatopulmonary syndrome progressed gradually. She was examined carefully and exhibited no findings to suggest the recurrence of YST. We decided to perform LDLT at 3 years and 6 months of age after the surgery for YST. The patient is currently alive and doing well without recurrence of YST at approximately 2 years after transplantation. There is no significant difference between the recurrence rate of preexisting extrahepatic malignancy and the incidence of de novo malignancy if specific cases are selected. The indications and period from surgery for preexisting extrahepatic malignancy to LT should thus be determined according to the type and stage of cancer.

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.