Primary Extragonadal Germ Cell Research Articles

Primary, Nonmidline, Extragonadal, Immature Teratoma of the Palm with Axillary Nodal Metastasis: A Rare Case Report and Review of Literature

AbstractPrimary, nonmidline, extragonadal germ cell tumors are rare. Numerous hypotheses have been proposed regarding their origin. There is lack of consensus regarding their appropriate management. We report a case of an immature teratoma arising of the left palm. A 36-year-old lady presented with a recurrent left palm swelling. Histopathological features with immunohistochemical evaluation were characteristic of an immature teratoma. Alpha-fetoprotein (AFP) and lactate dehydrogenase (LDH) were elevated. She received preoperative chemotherapy with bleomycin, etoposide, cisplatin (BEP) followed by wide excision of the palm lesion and reconstruction with free latissimus dorsi flap. Postoperatively, two more cycles of BEP were given. Eight months later, she presented with large left axillary mass which showed metastatic deposits of immature teratoma on trucut biopsy. AFP and LDH were mildly elevated. On staging fluorodeoxyglucose-positron emission tomography (FDG-PET), there were no distant metastases. She received two cycles of vinblastine, ifosfamide, and cisplatin (VeIP). Postchemotherapy FDG-PET showed good metabolic response; however, the mass remained morphologically stable. Complete resection of the axillary mass was achieved with resection of a segment of axillary vein and end-to-end reanastomosis. At 12 months of follow-up the patient is disease free. This is the first report of axillary metastases in immature teratoma of the upper extremity. Axilla is a possible site of lymph node metastases in extremity teratoma. Primary extragonadal germ cell tumor should be managed with complete surgical resection and chemotherapy.

Upper gastrointestinal bleed as the initial presentation of seminoma involving the duodenum in an elderly patient with 9year follow up: A case report and literature review.

Germ cell tumors are the most common malignancies in males between 20 and 40 years. However, primary extragonadal germ cell tumors are rare and account for 2%-5% of all germ cell neoplasms in adults. Extragonadal germ cell tumors are characterized by their midline locations including pineal and suprasellar regions, mediastinum, retroperitoneum and sacrococcyx. These tumors have also been reported in rare locations such as prostate, bladder, vagina, liver and scalp. Extragonadal germ cell tumors can be primary but may also represent metastases from primary gonadal germ cell tumors. In this report we describe a case of a duodenal seminoma in a 66-year-old male with no history of testicular tumors, who presented with upper gastrointestinal bleed as the initial manifestation. He was effectively treated with chemotherapy and continues to progress well clinically, with no episodes of recurrence.

Pathological features of primary extragonadal germ cell tumor of the prostate with small round blue cell morphology

Objective: To investigate the clinicopathological features and clinical management of primary extragonadal germ cell tumor of the prostate. Methods: Two cases of primary extragonadal germ cell tumor in the prostate were collected at Fudan University Shanghai Cancer Center, in January and September 2016, respectively. Their pathological features, clinical treatments and follow-up were retrospectively analyzed. Results: The two patients were 41 and 32 years old, respectively, and both presented with obstructive symptoms of the lower urinary tract. Histologically, both cases showed small round blue cells and an invasive growth pattern. The immunohistochemistry (IHC) stains of SALL4, OCT3/4, CD117 and PLAP were all positive, while those of PSA, AR and syn were negative. Moreover, case 1 demonstrated perinuclear dot-like staining for CKpan, which might be a diagnostic pitfall. There was no evidence of disease in other areas via physical examination or radiographic studies. Based on these IHC findings and the morphology, the two cases were diagnosed as primary seminoma of the prostate, which were consequently treated with six cycles of bleomycin, etoposide and cisplatin-based chemotherapy. A complete response was achieved in case 1. Case 2 was followed up and showed tumor recurrence, and progression with elevated tumor marker AFP. The subsequent radical removed specimens of case 2 were finally diagnosed as mixed germ cell tumor of the prostate. Conclusion: As a rare neoplastic entity, primary germ cell tumor of the prostate can show small blue round cell morphology. Pathologically, the morphology of small round blue cells combined with a perinuclear dot-like pattern of CKpan IHC staining may be a diagnostic pitfall. The clinical treatment strategy should be evaluated with consideration of the pathological diagnosis and comprehensive evaluation of the tumor markers.

Late testicular relapse two decades after primary extragonadal germ cell tumor with uncommon metastases: a case report

BackgroundExtragonadal germ cell tumor (EGCT) is a relatively rare condition, reportedly representing 3–7% of all germ cell tumors. We report a patient who had metachronous testicular tumor with uncommon metastases 20 years after primary retroperitoneal EGCT treatment, along with a corresponding literature review.Case presentationA 49-year-old Japanese man visited our department in November 2017 with chief complaints of indolent right scrotum enlargement and a right inguinal mass. History showed that the patient visited our department of gastroenterology with chief complaints of blackish feces and ill complexion in February 1997. Computed tomography (CT) showed a right retroperitoneal tumor, which was removed in the same month. Histopathological examination showed a teratoma and yolk sac tumor. He was diagnosed with primary retroperitoneal EGCT and received three courses of chemotherapy (bleomycin/etoposide/cisplatin; BEP). Periodic imaging and the determination of tumor markers (alpha-fetoprotein [AFP], human chorionic gonadotropin [HCG], and lactate dehydrogenase [LDH]) showed no recurrence or metastasis during the 5 years postoperatively. Subsequently, he did not visit the outpatient ward. In August 1999, he underwent surgery of right hydrocele. Contrast-enhanced CT showed a 35-mm contrast effect with uneven content in the right testicle and enlarged nodes that raised suspicion for metastases in the right inguinal and right external iliac lymph nodes. All tumor markers were within normal ranges. He underwent right high orchiectomy and resection of the right inguinal lymph nodes in the same month. Histopathological findings revealed seminoma (pT1, pN2, M0, S0, and TNM stage IIB). He received postoperative chemotherapy, one course of BEP therapy, and three courses of etoposide and cisplatin therapy. Post-chemotherapy CT confirmed a complete clinical response at the right external iliac lymph nodes, and this response continued 12 months later. No recurrence or metastasis has been found so far.ConclusionsWe report a patient in whom a testicular tumor with uncommon metastases occurred 20 years after primary retroperitoneal EGCT treatment. After EGCT treatment, testicular relapses tend to occur after relatively long-term follow-up. After EGCT treatment, such patients must be closely monitored for testicular recurrences and onset of testicular tumor.

Primary Extragonadal Germ Cell Tumors in Klinefelter Syndrome: 10-Years of Experience from a Single Institute

Primary Extragonadal Germ Cell Tumors in Klinefelter Syndrome: 10-Years of Experience from a Single Institute

A novel pathology of a mediastinal neoplasm

Primary extragonadal malignant germ cell tumors (EMGCTs) are rare and account for only 2–5% of malignant germ cell tumors. Vascular tumors are uncommon mediastinal masses making up < 1% of all mediastinal masses. We report the case of a 20-year-old man presenting with a germ cell seminoma as well as an atypical hemangioma encapsulated in one mass within the mediastinum. This clinical report focuses on a 20-year-old man who presented with both a germ cell seminoma as well as an atypical hemangioma within one encapsulated mass, a unique case not presented before in literature to our knowledge. The histological analysis is essential in correctly diagnosing a neoplasm. Combining the unique histology of this case with the clinical and scientific knowledge of several specialties allowed the clinicians to successfully develop a treatment for this patient.

Primary malignant teratoma of the mediastinum with poor outcome: A case report

Introduction. About 5%?10% of mediastinal tumors in adults are teratomas and about 85% of them are benign. Case report. We report a case of extragonadal malignant teratoma in a 39-year old man. The computed tomography (CT) scan of the chest revealed the soft-tissue density mass in the middle lobe of the lung. The posterolateral thoracotomy was performed and a mediastinal tumor of 25 cm was completely resected. Histopathological findings confirmed malignant teratoma. One month after the resection the positron emission tomography- computed tomography (PET/CT) scan of the whole body was performed and showed progression of the disease. Patient developed signs of the superior vena cava obstruction and received radiotherapy of the mediastinum and the metastatic lesion of the lumbal vertebra. After radiotherapy, the patient developed paraplegia and urinary incontinence and received the best supportive treatment. Conclusion. Primary extragonadal germ cell tumors have poor prognosis due to their relative chemoresistance and frequent findings of advanced disease after establishing the diagnosis.

The first reported case of a palpable and hypoechoic burned out testicular tumor

Primary extra gonadal germ cell tumors are rare.In case of the diagnosis of a midline retroperitoneal mass in a male, germ cell tumors should be taken into consideration. It is commonly accepted to consider retroperitoneal germ cell tumors as the metastasis of a viable or burned out testicular tumor. In such casesorchiectomy should be performed since the burned out site in the testis could continue to harbor malignancy despite systemic chemotherapy.A 45-year-old man presented as an outpatient with complaints of back pain.He was diagnosed with a retroperitoneal mass and a palpable testis mass.Due to increased serum tumor markers and the testicular mass,he underwent radical orchiectomy. Pathological study revealed a burned out tumor.Following chemotherapy, retroperitoneal lymph node dissection(RPLND)was performed and despite the residual and enhanced retroperitoneal lymph nodes in his CT scan, none of the resected lymph nodes showed a viable tumor.However and despite the rising number of reports onthis disease, our case had adifferent presentation both at initial diagnosis and during follow up after chemotherapy.This is the first reported case of a palpable and hypoechoic burned out testicular tumor. Key words testis,burned out tumor,lymphadenectomy,tumor

Primary extragonadal germ cell tumor: A case report on prostate seminoma.

Primary extragonadal germ cell tumors are rare, and 60% of such cases are seminomas. While the tumors can occur in the mediastinum, thymus, retroperitoneal organs and pineal gland, seminoma originating in the prostate tissue is extremely rare. The present study reports the case of a 54-year-old male with prostate seminoma. The patient was followed up at the First Affiliated Hospital of Dalian Medical University (Dalian, Liaoning, China) from 2001 onwards. The patient received chemotherapy with cyclophosphamide following total resection of the pelvic organs, pelvic lymph node dissection, continent detenial cecum-ascending colic bladder and orchidectomy. The patient experienced considerable post-operative quality of life for >10 years and the disease did not reappear. The study indicated that extragonadal seminoma is sensitive to chemotherapy, and that radical surgery and post-operative adjuvant chemotherapy with cyclophosphamide is a reasonable and feasible treatment method.

Two Cases of Retroperitoneal Metastasis from a Completely Regressed Burned-Out Testicular Cancer

Primary extragonadal germ cell tumors (EGCT) are rare and it is still a matter of debate if they have to be considered as primary extragonadal issues or metastases from a primary testicular neoplasm. We describe two cases of the so-called burned-out seminoma, a primary testicular germ-cell tumor that spontaneously regressed after demonstration of retroperitoneal metastases. Two patients (35 and 50 years old, respectively) presented with CT findings of retroperitoneal masses. In both cases physical examination of the testis was not suspicious, and only scrotal ultrasound (SUS) showed parenchymal alterations such as scarring, calcifications and nodular lesions. Left orchiectomy and chemotherapy were then performed in both cases. Currently, they are both free of disease. Although primary germ cell tumors may be of retroperitoneal origin, the likelihood of metastasis from a testicular primary origin should always be carefully considered in order to avoid misdiagnosis and to apply the best treatment schedule for the patients. Therefore, a testicular ultrasonography is mandatory in patients presenting CT findings of retroperitoneal adenopathy, even if patients are completely asymptomatic and their physical examination appears normal.

Pathohistologic findings in patients with nonseminomatous germ cell tumors (NSGCT) who undergo postchemotherapy retroperitoneal lymph node dissection (PC-RPLND) for small tumors.

224 Background: The current guidelines recommend the resection of all visible residual tumors in NSGCT after a cisplatin based chemotherapy. There are controversial data concerning the necessity of PC-RPLND in patients with residual tumours less than one centimetre in diameter. The aim of our study was to evaluate the pathological findings in a modern series with regard of the residual tumour size. Methods: A retrospective analysis of the patient's charts was performed including patients who underwent PC-RPLND between 1989 and 2010. Of 408 patients 330 had a NSGCT, 78 patients had a pure seminoma or a primary extragonadal germ cell cancer and were excluded from analysis. The tumour size at the time of surgery was available in 261 patients in the remaining 69 pateints no preopretive data with regard to the tumour size were recorded in the radiology reports. Due to the location of the residual tumour a median laparotomy, a thoracoabdominal approach was used. In one center a laparoscopic approach was preferred. Results: Mean tumour diameter was 4.7 (0 to 32) cm. The patients were stratified in three groups: group 1 n=28 (RT&lt;=1cm), group 2 n=23 (RT&gt;1&lt;=1.5cm) and group 3 n=209 (RT&gt;1.5cm). The histological specimens contained teratoma in 21.4%, 39.1%, 44.5% respectively, viable cancer in 10.7%, 17.4% and 22% respectively, and fibrosis/necrosis in 64.3%, 52.2% and 37.8% respectively in the three grpups respectively. Conclusions: The finding of both teratoma and viable cancer decreases with decreasing sizes of the residual tumour. Nevertheless lesions &lt;= than 1 cm still harbour a significant pathohistology in one third of the patients. As a consequence PC-RPLND must not be omitted even in small RT. No significant financial relationships to disclose.

Primary retroperitoneal dysgerminoma presenting as an adrenal tumor: A case report and literature review

Primary extragonadal germ cell tumors are rare and mostly occur in young men with predominance of nonseminomatous histology. We report an undescribed case of primary retroperitoneal dysgerminoma presenting as an adrenal tumor in a 17-year-old girl. Surgery was performed on a 10 × 9.5 cm sized adrenal gland tumor and the resected tumor showed unequivocal histological features of dysgerminoma. The diagnosis was confirmed by the tumor's germ cell immunophenotype. Postoperative ultrasonography, CT and PET over a 6-month period revealed no evidence of ovarian lesion. The patient is stable, but with a suspicious residual tumor after adjuvant chemotherapy.

RNA-binding protein LIN28 is a marker for primary extragonadal germ cell tumors: an immunohistochemical study of 131 cases

LIN28 has been shown to have an important role in primordial germ cell development and malignant transformation of germ cells in mouse. In this study, we examined the immunohistochemical profile of LIN28 in 131 primary human extragonadal germ cell tumors (central nervous system (CNS) 76, mediastinum 17, sacrococcygeal region 30, pelvis 3, vagina 2, liver 1, omentum 1, and retroperitoneum 1), including the following tumors and/or components: 57 seminomas/germinomas, 10 embryonal carcinomas, 74 yolk sac tumors, 6 choriocarcinomas, 15 mature, and 13 immature teratomas. We compared LIN28 with SALL4 to assess its diagnostic value. To determine its specificity, we examined LIN28 in 406 extragonadal-non-germ cell tumors (103 carcinomas, 91 sarcomas, 9 melanomas, 12 mesotheliomas, 83 lymphomas, 9 plasmacytomas, 82 CNS tumors, and 17 thymic epithelial tumors). The staining was semi-quantitatively scored as 0 (no cell stained), 1+ (0–30%), 2+ (31–60%), 3+ (61–90%), and 4+ (>90%). LIN28 staining was seen in all seminomas/germinomas (3+ in 1 and 4+ in 56), embryonal carcinomas (4+ in all 10), and yolk sac tumors (3+ in 3 and 4+ in 71). Variable LIN28 staining was seen in 5 of 6 choriocarcinomas (1+ to 4+), 8 of 13 immature teratomas (1+ to 2+ in immature elements), and in 1 of 15 mature teratomas (1+). Only 11 of 406 non-germ cell tumors showed 1+ LIN28 staining. Therefore, LIN28 is a sensitive (100% sensitivity) marker for primary extragonadal seminomas/germinomas, embryonal carcinomas, and yolk sac tumors with high specificity. Compared with SALL4, LIN28 demonstrated a similar level of diagnostic sensitivity for seminomas/germinomas and embryonal carcinomas. For primary extragonadal yolk sac tumors, although SALL4 stained all tumors (1+ in 1, 2+ in 2, 3+ in 10, and 4+ in 61), LIN28 stained more tumor cells (mean 95 vs 90%, P=0.03) and was therefore more sensitive. For primary extragonadal yolk sac tumors, combining LIN28 and SALL4 can achieve a higher diagnostic sensitivity than either alone.

Teratoma sacrococcígeo gigante, distocia y preeclampsia. Análisis de un caso clínico y posmortem

Sacrococcygeal teratoma is the primary extragonadal germ cell neoplasm in childhood. This tumor is usually detected in the neonatal period and may become malignant. Treatment is surgical. The incidence of this entity is low and diagnosis can be made in utero. However, prognosis is given by histopathologic correlation only. The perinatal importance of this entity lies in its size, which causes high fetal and perinatal mortality and complications such as dystocia, polyhydramnios, preterm labor, rupture of the tumor and preeclampsia.There is a risk of malignant transformation in 5% of mature teratomas. The treatment of choice is complete tumor resection and surveillance of tumoral markers is indispensable. We report a case of giant sacrococcygeal teratoma and discuss the postmortem analysis and perinatal implications.

Primary retroperitoneal seminoma: an unusual cause of testicular pain

Germ cell tumours in men usually arise from the testes, with only 1–2% originating from other locations.1 These so-called primary extra-gonadal germ cell tumours (EGCTs) are rare, accounting for 0.15–0.2% of all malignancies.2 They are characterized by their midline location, and have been reported to occur anywhere from the pineal gland to the coccyx, with the commonest locations being the mediastinum and the retroperitoneum.3 Lack of awareness of this condition, together with its rarity, often results in diagnostic delay. The commonest presenting symptoms of retroperitoneal germ cell tumours (GCTs) are abdominal and back pain, but can include weight loss, night sweats, venous thrombosis and scrotal oedema among others.3 However, there have been no reported cases of testicular pain as a presenting complaint. Here we report such a case, and highlight the difficulties in diagnosis.

Posthepatische Cholestase infolge primär-extragonadaler Manifestation eines Keimzelltumors bei einem Patienten mit Favismus

In patients with glucose-6-phosphatase dehydrogenase (G6PD) deficiency (favism) jaundice is usually caused by hemolysis due to stress, infection or following the application of drugs. We report on a 74-year-old Italian with known G6PD deficiency complaining of jaundice, weight loss and abdominal pain. Physical examination revealed jaundice of the eyes. Scrotal examination by palpation and ultrasound showed no abnormalities. Serum levels of beta-human chorionic gonadotropin and alpha-fetoprotein were within normal limits, total bilirubin was extremely elevated, with predominant direct bilirubin. Abdominal ultrasound showed posthepatic blockage of bile flow with a dilated ductus hepatocholedochus (DHC) in the absence of gallstones. Enlarged, multiple contrast-stained paraaortic and retroperitoneal lymph nodes were detected by endoscopic ultrasound and magnetic resonance imaging. Due to failed endoscopic retrograde cholangiopancreatography, visualization of the biliary tree by percutaneous transhepatic cholangiography (PTC) was performed showing an occlusion of the DHC. After successful stent-implantation by PTC with decompression of the biliary tree, the jaundice disappeared. Computer tomography-guided percutaneous biopsy of a retroperitoneal lymph node was performed for histological evaluation showing a primary extragonadal nonseminomatous germ cell tumor. According to the histology (embryonic carcinoma) and clinical stage of the tumor systemic chemotherapy was initiated including cisplatin, etoposide and ifosfamide. After the first cycle of chemotherapy the patient suffered from pneumonia leading to septic shock. Twenty-seven days after admission, the patient died of multiple organ failure. Extragonadal germ-cell tumor presenting as retroperitoneal lymph nodes with obstructive jaundice has to be considered in the differential diagnosis of cholestasis.

Testicular seminoma: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up

Testicular seminoma: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up

Retroperitoneal extragonadal germ cell tumour presenting as traumatic injury

Testicular tumour is the most common neoplasm in males between ages 15 and 34 years with metastatic disease thought to be as high as 4–14% at presentation. On the contrary, primary extragonadal germ cell tumour (EGCT) is a rare disease, accounting for only 1–4% of all germ cell tumours. Differentiation between the primary and the secondary germ cell tumour can be challenging, as testicular tumour often regress or burn-out and can emerge unexpectedly many years later. We report on a case of retroperitoneal extragonadal metastatic germ cell tumour who presented with backache after a seemingly sports related injury.

Extragonadal retroperitoneal germ cell tumor: primary versus metastases?

Primary extragonadal germ cell tumors are rare and their histogenetic origin is not clear. We describe two cases presenting as primary retroperitoneal germ cell tumors without clinical evidence of testicular tumor. A 21 and 18 years-old patients presented retroperitoneal choriocarcinoma and yolk sac tumor, respectively. In both cases, testicular palpation was not suspicious for testicular cancer. Testicular ultrasound founded alterations in right testes. A right orchitectomy were performed and the final diagnostics were mature teratoma associated with intratubular malignant germ cell. Adult mature teratoma is infrequent and the retroperitoneal germ cell tumors should be considered to be metastases of a viable or burned-out testicular cancer.

Mixed Nonseminomatous Germ Cell Tumor Presenting as a Subcutaneous Tissue Mass

Extragonadal germ cell tumors most commonly arise in the midline of the retroperitoneum or the mediastinum. Primary tumors involving the skin are very rare. Only one case of malignant primary germ cell tumor located in the skin has been reported. We present the case of a 44-year-old white man with a primary subcutaneous mixed nonseminomatous germ cell tumor. This man had a long-lasting subcutaneous lump of the breast, which became painful. Surgery revealed 3 juxtaposed nodules. Microscopic examination showed a mixed germ cell tumor with a 90% immature teratoma component and a 10% embryonal carcinoma component. Testicular ultrasound and computed tomography of the chest, abdomen, pelvis, and brain were normal. Serum human chorionic gonadotrophin, beta-human chorionic gonadotrophin, alpha-fetoprotein, and lactate dehydrogenase were within normal ranges. A further surgical excision was performed. The patient is presently alive with no evidence of disease after a follow-up of 7 years. Review of the literature indicates that primary cutaneous extragonadal germ cell tumors usually occur as cutaneous or subcutaneous solitary nodules or as ulcerated lesions. They mainly consist of mature teratomas in children. Only 2 cases have been reported in adults.