Germ Cell Tumor Presenting Research Articles

A Case of Non-Seminomatous Germ Cell Tumor Complicated by Tumor Thrombus in an Active Duty Soldier.

Testicular malignancies commonly affect adolescent and young adult males. Although they tend to respond well to cisplatin-based chemotherapy with excellent overall survival, complications such as inferior vena cava tumor thrombus are rare and can be associated with high morbidity and mortality. We present a case of tumor thrombus in a 21-year-old active duty male with a newly diagnosed stage IIIB non-seminomatous germ cell tumor presenting with extensive left lower extremity swelling. Ultrasound with Doppler was notable for significant thrombus of the left common femoral, femoral, and popliteal vein. Computed tomography imaging revealed extensive thrombus of the inferior vena cava, left iliac veins, and left gonadal vein with sparing of the left renal vein. Endovascular thrombectomy was performed with pathologic analysis confirming the presence of malignant cells consistent with tumor thrombus. The patient continued subsequent non-seminomatous germ cell tumor treatment without complications.

A case of a missense DYNC1H1 mutation causing spinal muscular atrophy with lower limb predominance concurrent with germ cell tumor

We report a patient diagnosed with a germ-cell tumor presenting with spinal muscular atrophy with lower limb predominance (SMA-LED) caused by a <i>DYNC1H1</i> genetic variant. His clinical and electrophysiologic phenotype was compatible with SMA-LED. We identified a heterozygous missense variant (c.1793G>T) of <i>DYNC1H1</i>. This report expands the clinical spectrum of <i>DYNC1H1</i>-related disorders, and reinforces the importance of <i>DYNC1H1</i> in both central and peripheral neuronal functions. We suggest that germ-cell tumors should be considered as a possible phenotype of <i>DYNC1H1</i>-related disorders.

Abstract 16284: Atypical Cause of Embolic Stroke; Intracardiac Metastasis of Mixed Germ Cell Tumor

Testicular neoplasm constitutes the most common solid organ malignancy in males between the ages of 15 and 35. Metastatic disease to the heart is a rare entity. In most cardiac cases, metastasis is by direct hematogenous spread via the inferior vena cava to the right heart. Metastatic disease to the left heart is even more infrequent. We present the case of intracardiac metastasis of mixed germ cell tumor presenting with an embolic stroke. A 47-year-old Latinx male with a history of stage IV testicular cancer s/p left radical orchiectomy with multiple bilateral pulmonary masses (largest 6x9 cm), atrial fibrillation s/p ablation, left lower extremity iliac thrombus s/p thrombectomy, HTN, and diabetes who presented with sudden onset expressive aphasia and dysarthria. CT head showed a 3x5 cm left occipital intraparenchymal hemorrhage suspected to be an embolic stroke with hemorrhagic conversion. Further evaluation with TTE and TEE revealed a highly mobile and friable multi-lobar mass attached to the anterior mitral leaflet occupying most of the left atrial cavity (4.2x4.9 cm), a small mass attached to the right ventricular aspect of the tricuspid valve, an echo-dense mass in the left lower pulmonary vein at the left atrial junction, and a large mass abutting the rim of the superior vena cava. Definitive surgical management was considered; however, patient was deemed a high-risk candidate given high burden of cardiac metastases. After multidisciplinary discussion, it was decided to pursue systemic chemotherapy. This case illustrates an exceptionally rare presentation of advanced stage testicular cancer metastasizing to the heart with large intracardiac tumor burden resulting in embolic stroke. Early cardiac screening may be beneficial in individuals with history of cancer who present with stroke symptoms. Embolization of cardiac metastasis to other organs poses a great clinical challenge and multidisciplinary decision-making is crucial to clinical management.

Different Clinical Presentations of Malignant Ovarian Germ Cell Tumors based on Age, Parity and Histology

Background: Ovarian tumors are mostly detected in advanced stages. Early diagnosis of malignant ovarian germ cell tumors is so vital to keep life and fertility of the patients. We aimed to find out different presentations of malignant ovarian germ cell tumors based on age, parity and histology to help early diagnosis of the tumors.
 Methods: In this study, malignant ovarian germ cell tumors admitted in a referral center of gynecology oncology were studied 2001-2018. The symptoms and signs of the patients were collected and analyzed according to age, parity and specific histology.
 Results: 128 cases of malignant germ cell tumors were detected. The primary symptoms included abdominal distension (45%), acute pain (40.95%), chronic pain (23.95%), menstrual irregularity (14.7%), sense of abdominal firmness and mass (7.72%), nausea (5.4%), fever (5.4%), lack of appetite (4.63%), virilization (3.1%), depletion of weight (3.1%), and 9.27% detected incidentally. Abdominal distension, and acute pain decreased after 24. Menstrual disorders and incidental detection in multiparas were significantly more than nulliparous (p<0.05). Abdominal distension was the prominent sign in dysgerminomas (50%). Almost 45% of immature, yolk sac, and mixed tumors referred with acute abdominal pain. The data showed that 85% of the patients had been suffering from some discomforts for days to months prior to the diagnosis.
 Conclusion: The majority of cases are symptomatic for a long time before the first visit although aging and parity can lessen their severity. Late diagnosis can lead to acute abdomen in some histology types. Young women and health providers should be warned about concerned presentations of ovarian tumors.

Burned-Out Testicular Germ Cell Tumor Presenting as Retroperitoneal Lymphadenopathy in a Patient With Cryptorchidism: A Case Report & Review of Literature

Testicular germ cell tumors are the most common malignancy in young and middle-aged men. Spontaneous primary testicular tumor regression, or testicular tumor burn-out, is a rare clinical phenomenon where extragonadal metastatic lesions are observed concurrently with the spontaneous regression of the primary testicular germ cell tumors. Here, we describe the case of a 36-year-old male who presented to our hospital with left-sided abdominal pain and testicular swelling and was found to have significant retroperitoneal lymphadenopathy on his abdominopelvic CT scan. His testicular ultrasound showed multiple echogenic calcifications through the right testicle consistent with microlithiasis. Biopsy of the retroperitoneal lesion revealed a mixed germ cell tumor of testicular origin composed of embryonal carcinoma and teratoma. The patient received four cycles of bleomycin, etoposide, and cisplatin, followed by retroperitoneal lymph node dissection (RPLND) and radical right testicular orchiectomy. Here, we report the second case of burned-out testicular tumor in a patient with ipsilateral cryptorchidism. Furthermore, we elucidate the etiology, clinical presentation, and diagnostic modalities in burned-out testicular germ cell tumors.

Extragonadal germ cell tumor presenting with spinal cord compression: a case report and literature review

BackgroundYolk sac tumor or endodermal sinus tumor is an uncommon malignant germ cell neoplasm. This tumor usually presents in childhood or young adulthood as a testicular or ovarian mass. Extragonadal sites such as mediastinal, intracranial, and sacrococcygeal have been described. A review of the literature revealed limited related cases. The clinical presentation, radiographic characteristics, operative findings, and patient outcomes are discussed.Case presentationWe report the occurrence of a primary paraspinal germ cell tumor in a 28-month-old boy who presented with thoracic spinal cord compression. The patient presented with pain, weakness, paraplegia, and bowel and bladder disturbances.MRI was done and showed a retroperitoneal and paravertebral mass invading the left diaphragmatic crus, the lateral neural foramen, and the posterior paravertebral muscles. Morphologic and immunohistochemical features were consistent with a germ cell tumor, namely an endodermal sinus tumor (yolk sac) of the epidural area. The final diagnosis was determined to be stage IV extragonadal germ cell tumor. The patient underwent emergency surgery consisting of T10–12 laminectomy and epidural mass resection with the release of the spinal cord compression and received chemotherapy consisting of cisplatin, bleomycin, and etoposide. After six cycles of chemotherapy, follow-up MRI showed complete resolution of the tumor. The patient has been in complete remission 16 years from his initial diagnosis. He still, however, has mild residual weakness in both lower extremities and some detrusor-sphincter dyssynergia.ConclusionExtragonadal germ cell tumors presenting with spinal cord compression are rare; however, they should be included in the differential diagnosis of every child younger than 3 years old who does not present with the typical features. Germ cell tumors are sensitive to platinum-based chemotherapy, and surgery should only be performed for spinal cord compression and for obtaining tissue biopsy for a definitive diagnosis. The sooner the decompression is done, the better neurological outcome is achieved. Long-term remission, and possibly cure, can be achieved with a multidisciplinary treatment strategy.

Extragonadal Mixed Germ Cell Tumor Presenting as Large Mass in the Pelvic Cavity

Extragonadal germ cell tumors are relatively rare tumor, which usually occurs in the mediastinum or retroperitoneum. In this report, we present a case of primary mixed germ cell tumor (GCT) arising in the pelvic cavity. A 38-year-old male with acute abdominal pain was admitted to our hospital. Computed tomography scan imaging demonstrated a large mass in the pelvic cavity. Histological examination of the specimen revealed germ cell tumor with dual morphology. Immunohistochemical studies detected placental alkaline phosphatase (ALP), OCT3/4, ALP, and pancytokeratin. Taking these results together with the patient's other clinical manifestations, this case was diagnosed with mixed GCT, i.e., seminoma plus yolk sac tumor. Chemotherapy was successful. Mixed germ cell tumor in the pelvic cavity is extremely rare but should be considered as a cause of pelvic mass formation.

GCT-18. CLINICAL FEATURES OF GERM CELL TUMORS IN CHILDREN

INTRODUCTIONHere, we discuss the presentation, histology, therapy, and outcome of germ cell tumors in children.METHODSTreatment outcome and management was assessed for children diagnosed with germ cell tumors from 2007 to 2017 at Kagoshima University.RESULTSTwenty-six patients (20 boys, 6 girls) with a mean age of 11.5 ± 4.9 years were included in this study. Patient tumor types included: germinoma (n = 19); immature teratoma (n = 3); yolk sac tumor (n = 3); choriocarcinoma (n = 1); embryonal carcinoma (n = 1). The most common patient clinical features were headache and vomiting associated with hydrocephalus. The median follow-up period was 96.5 months. Tumor location was pineal (n=9), bifocal (n=6), suprasellar (n = 5), basal ganglia (n=2), frontal lobe (n=2), and cerebellum (n=2). Surgical procedures included stereotactic biopsy (n=13), endoscopic third ventriculostomy and biopsy (n=8), and tumor decompression (n=5). All patients with germ cell tumors underwent adjuvant chemotherapy and radiation therapy; patients with germinoma or immature teratoma were still alive, while patients with embryonal carcinoma, yolk sac tumor, or choriocarcinoma had poor prognosis with a median survival of 16 months.CONCLUSIONSPatients with germinoma had a relatively good prognosis, while patients with embryonal carcinoma, yolk sac tumor, or choriocarcinoma had a poor prognosis. A multidisciplinary approach including surgical strategy based on location, appropriate radiation planning, and chemotherapy is needed for effective treatment and improved outcomes.

Testicular non-seminomatous germ cell tumour presenting as a neck lump: a diagnostic and therapeutic challenge

Testicular tumours are one of the most prevalent cancers in young males. Teratoma is one type of testicular tumour, which carries a good prognosis if treated appropriately. We describe a case of a 37 year old man, diagnosed with testicular non-seminomatous germ cell tumour in 2005. He underwent left orchidectomy and radical chemotherapy with Bleomycin, Etoposide and Cisplatin. He had involved retroperitoneal lymph nodes at the time of diagnosis and underwent retroperitoneal lymphadenectomy in 2007. He made a good recovery but presented with a left neck lump in 2009, the appearance of which suggested differentiated teratoma on fine needle aspiration cytology. The neck lump was excised without any complications and histology confirmed the mass to be mature teratoma with no undifferentiated elements. He has remained disease free since then and remains under oncological surveillance, in keeping with current protocols.

Metastatic germ cell tumour presenting as acute megakaryoblastic leukaemia and disseminated melanoma: A case report

Since first recognised in 1985, studies have described the unique and rare association between haematological malignancies and germ cell tumours, most commonly acute megakaryoblastic leukemia (AMKL) and non-seminomatous germ cell tumours. A recent molecular study identified mutations in PTEN and TP53 in both tumours, supporting the theory that distinct genomic alterations underlie this rare association. It is also recognised that teratomatous components of mediastinal germ cell tumours have a tendency for secondary transformation to other malignancies including melanoma. We report a case of a 38-year-old man presenting with severe back pain. An MRI spine demonstrated diffuse marrow replacement and bony lesions concerning for metastatic disease. The patient had recently completed chemotherapy for a mediastinal germ cell tumour with teratomatous components on histopathology. A staging CT identified liver and splenic lesions suspicious for metastatic deposits. A peripheral blood film performed on admission was found to have circulating blasts with an immunophenotype consistent with megakaryoblasts. He subsequently underwent a bone marrow biopsy confirming AMKL with a TP53 mutation. A liver biopsy revealed necrotic tumour with immunohistochemistry consistent with metastatic melanoma. In summary, we describe a case of treated mediastinal germ cell tumour with secondary transformation to metastatic melanoma with synchronous AMKL.

A case of germ cell tumour presenting as diabetes insipidus

A case of germ cell tumour presenting as diabetes insipidus

Case Report: Germ cell tumor presenting as cecal mass

Extra gonadal germ cell tumors most frequently occur in the anterior mediastinum, retro-peritoneum, and pineal and suprasellar regions. The infrequency of its occurrence inside gastrointestinal tract makes it an arduous diagnostic challenge. A 23 year old male with no significant past medical history presented to the emergency department with increasing abdominal pain, diarrhea, episodic vomiting for 3 weeks. Review of systems was positive for melena and shortness of breath on exertion. Fullness and irregularity along with tenderness was noted around the right iliac region. CT scan (computed tomography) of the abdomen revealed a cecal mass with multiple metastases to liver, lungs and abdominal lymph nodes. Colonic endoscope was performed but it could not be advanced beyond the cecal mass. Biopsies from the mass were reported as poorly differentiated metastatic carcinoma. During the course of hospitalization, he developed symptomatic small bowel obstruction with perforation. Colonic resection was performed and histology showed Germ-Cell Tumor. Beta HCG level was 118789 IU/L suggestive of a non-seminomatous germ cell tumor. Ultrasound of the scrotum, MRI brain (magnetic resonance imaging) and CT scan of the chest did not reveal a primary tumor. Chemotherapy was started with Bleomycin, Etoposide and Cisplatin after which beta human chorionic gonadotropin (HCG) levels dropped dramatically. His hospital course got complicated with neutropenic sepsis with shock which progressed to multi-organ dysfunction and unfortunately, he succumbed to the disease burden. This case demonstrates one of the rare presentations of extragonadal germ cell tumors and the diagnostic challenges associated with it. Very few cases have been reported in the literature, and none of them presented as a cecal mass. Early recognition of this presentation will help in reducing the tumor burden and the mortality associated with it, as germ cell tumors are highly susceptible to chemotherapy.

Primary Mediastinal Malignant Mixed (Non-seminomatous) Germ Cell Tumor Presenting as Superior Vena Cava Syndrome

Abstract Introduction Mediastinal germ cell tumors are commonly seen in children and young adults with male preponderance. They are clinically classified as teratomas, seminomas and nonseminomatous germ cell tumors. Primary mediastinal mixed germ cell tumor falls under the nonseminomatous classification and are very rare. These patients have poor prognoses despite multidimensional strategic approach (chemotherapy, radiotherapy, surgical intervention). Case Discussion A previously well 27-year old male initially presenting with non-productive cough and a right anterior neck mass unresponsive to antibiotic therapy is subsequently diagnosed to be an extra-gonadal germ cell tumor of the anterior mediastinum. Two months through the course of disease, patient’s symptoms have progressed presenting with facial edema, engorged neck veins and cardio-respiratory distress. He is later found to be admitted in the intensive care unit where further work-ups led to the diagnosis of primary mediastinal mixed (non-seminomatous) germ cell tumor. Chemotherapy (cisplatin, bleomycin, etoposide - 1 cycle) and chest radiotherapy (4 sessions) were initiated causing resolution of symptoms. One week after discharge, patient presented with seizures and sudden onset of dyspnea. Patient was brought to the emergency room where he subsequently expired. Discussion This case report presents an account of this rare disease entity from its initial presentation to post-mortem analysis. Primary mediastinal germ cell tumors are rare with a poor prognosis and should be strongly considered in the diagnosis of young men with a mediastinal mass and superior vena cava syndrome.

Case report: primary mediastinal germ cell tumour initially presenting as level IV cervical lymphadenopathy

AbstractThis case report describes an unusual case of a primary mediastinal germ cell tumour presenting initially as lymphadenopathy in the neck. This case highlights the rare occurrence of germ cell tumours in an area common to the routine extra oral dental examination of lymph nodes.

Recurrent germ cell tumour presenting as fractured neck of the femur

Recurrent germ cell tumour presenting as fractured neck of the femur

Germ cell tumour presenting as left atrial mass

A 33-year-old male presented with dry cough for 6 months and dyspnea on exertion for 3 months for which he was treated symptomatically by nearby physicians. On two-dimensional echocardiography, it revealed large left atrial mass occupying 2/3rd of the left atrium (LA) extending into the left lower pulmonary vein (PV). Then, his computed tomography of the chest was done, which revealed posterior mediastinal mass invading the left upper and lower lobe of the lung through the left main bronchus. The lesion also invaded the LA through the left PV. Biopsy was suggestive of nonseminomatous germ-cell tumor. This case is presented to demonstrate uncommon cardiac manifestations of secondary spread of testicular malignancy.

Endobronchial metastasis of testicular germ cell tumor

Endobronchial metastasis (EBM) of extrapulmonary malignancies is rarely reported; on the other hand, germ cell tumors (GCTs) are extremely rare. This report describes a case of a testicular germ cell tumor presenting as a polypoid endobronchial mass. A 48-year-old male patient had a history of hemoptysis for several weeks. He had undergone orchiectomy due to testicular GCT 20 years ago. Computerized tomography of the thorax obtained endobronchial polypoid lesion in the right intermediate bronchus. Rigid bronchoscopy was applied; right intermediate bronchus was obliterated with a polypoid lesion. The lesion was coagulated with argon plasma coagulation, and debris was removed by biopsy forceps. Pathological examination of the specimen was somatic-type GCT. No recurrence was observed during the follow-up of the patient. We want to present our case to emphasize the importance of distinguishing EBM from primary lung carcinoma which treatment and survival are quite different.

Mediastinal mixed germ cell tumor presenting as empyema

Mixed germ cell tumors are uncommon lesions in the mediastinum, which remain asymptomatic for long periods and often present with complications. We report a case of mediastinal tumor that ruptured into pleural cavity and presented as an empyema. The patient underwent an emergency excision of the mass with decortication.

Case Report: Primary Germ Cell Tumour Presenting as a Luminal Duodenal Mass

Introduction: Extragonadal germ cell tumors (GCTs) are rare and account for only 1-5% of all GCTs. They most commonly occur in the mediastinum or sacrococcygeal region; however, they can occur at various other locations, including the neck and retroperitoneum. We report a case of a primary GCT discovered endoscopically …

Psychiatric manifestations as initial presentation for pediatric CNS germ cell tumors, a case series.

Central nervous system (CNS) germ cell tumors account for 3% of all pediatric brain tumors in the USA. Presenting symptoms are typically location based with pineal tumors presenting with obstructive hydrocephalus and suprasellar tumors with hypothalamic/pituitary dysfunction and ophthalmologic abnormalities. Psychiatric manifestations such as psychosis and behavioral changes are atypical presentations of CNS germ cell tumors, with only 11 previously reported cases. This is a retrospective case series describing patients with CNS germ cell tumors with an atypical presentation including psychiatric manifestations. Information regarding clinical presentation, treatment course, and outcome were obtained. We report seven patients who presented with psychiatric symptoms consisting of psychomotor delay as well as behavioral and mood changes. Six of the seven patients were diagnosed ≥6months after onset of psychiatric symptoms. All of the seven are alive but five continue to have neurologic and psychiatric issues post treatment. Atypical presentations of CNS germ cell tumors can delay diagnosis and treatment and may be secondary to atypical locations as well as endocrine dysfunction manifesting as psychiatric symptoms. Delayed diagnosis did not appear to affect survival but earlier diagnosis may potentially be associated with better neurologic and psychiatric outcome. Patients who present with these symptoms and atypical neuroimaging should have a thorough evaluation for CNS germ cell tumors including serum and CSF markers. Clinicians should be aware of these less common presentations to aid in prompt diagnosis and treatment.