Abdominal distention and accentuation of an umbilical hernia in an 18 month old with a yolk sac tumor.
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A 7-month-old infant showed bilateral enlarged, nontender scrotal masses. The level of alpha-fetoprotein was greater than 10,000 ng/ml preoperatively; a high left inguinal orchiectomy was performed for a suspected yolk-sac tumor. The right testis was diagnosed as a mature teratoma because it was not possible to establish a line of cleavage between the tumor and the normal tissue, and a high right inguinal orchiectomy was performed. Only one case of bilateral testicular teratomas has been reported in the literature to date. We report a rare second case of bilateral testicular tumors, one a yolk-sac tumor and the other a teratoma.
Magnetic resonance imaging features of a rare pineal region yolk sac tumor found in a 31-year-old man with a history of previously treated embryonal cell carcinoma of the testicle are presented. No specific magnetic resonance imaging features that definitely differentiate yolk sac tumor from other pineal region tumors could be found. However, in individuals with a previously established testicular germ cell tumor, a metastatic or secondary primary germ cell tumor should be suspected when there is a newly diagnosed pineal region mass. Serum tumor markers are helpful in confirming the diagnosis of a germ cell tumor.
BACKGROUND/PURPOSE: Germ cell tumors are relatively common in the fetus and neonate and are the leading neoplasms in some perinatal reviews. The purpose of this study is to focus on the fetus and neonate in an attempt to determine the various ways germ cell tumors differ clinically and morphologically from those occurring in the older child and adult and to show that certain types of tumors have a better prognosis than others. METHODS: The author conducted a retrospective review of perinatal teratomas and other germ cell tumors reported in the literature and of patients treated and followed up at Children's Hospital San Diego and Children's Hospital Los Angeles. Only fetuses and infants less than 2 months of age with adequate clinical and pathologic data were accepted for review. RESULTS: Five hundred thirty-four fetuses and neonates presented with teratomas diagnosed prenatally (n = 226) and at birth (n = 309). The most common initial finding was a mass, noted either by antenatal sonography or by physical examination during the neonatal period, with signs and symptoms referable to the site of origin. Overall polyhydramnios was next followed by respiratory distress and stillbirth. The number of mature and immature teratomas was approximately the same. The incidence of teratoma with yolk sac tumor either at presentation or at recurrence was 5.8%, and the survival rate was 39%. Sacrococcygeal teratomas had the highest incidence of yolk sac tumor at 10%. Recurrent disease in the form of either teratoma or yolk sac tumor developed in 5% of patients. All individuals with teratomas who survived received surgical resection. CONCLUSIONS: Some germ cell tumors of the fetus and neonate have a better prognosis than others. Neonates with gastric teratomas have the best survival rates, and those with intracranial germ cell tumors the worst. Fetuses with teratomas detected antenatally have 3 times the mortality rate compared with postnatally diagnosed neonates. Although perinatal teratomas have a relatively low recurrence rate of 5%, close follow-up with imaging studies and serum alpha-fetoprotein determinations is is strongly recommended. Surgical resection alone may be adequate therapy for teratomas with nonmetastatic, microscopic foci of yolk sac tumor. In the nonteratoma group, patients with pure yolk sac tumor and gonadoblastoma have a much better outcome than those with choriocarcinoma, which has a very low survival of rate of 12%. Currently, the use of platinum-based combination chemotherapy has significantly improved the survival rate of infants with advanced malignant germ cell tumor disease.
Yolk sac tumors (YSTs) are malignant tumors that occur in the gonads of children and young adults, and at extragonadal sites in young children. The histological features of YSTs are variable and can be superimposed on other germ cell tumor histologies. Malignant endodermal cells within YSTs express alpha-fetoprotein, which can be detected in tumor tissue or serum. However, additional markers of endoderm differentiation would be beneficial for the classification of these tumors. Transcription factor GATA-4 regulates the differentiation and function of murine yolk sac endoderm, and its expression correlates with proliferation and cell survival in certain tissues. To see whether GATA-4 plays a role in human YSTs, we surveyed its expression in human germ cell tumors and cell lines. Northern analysis demonstrated expression of GATA-4 mRNA in four human germ cell tumor lines exhibiting yolk sac endoderm differentiation. GATA-4 protein was detected in eight of nine pediatric YSTs by immunohistochemistry. Three of five immature teratomas exhibited GATA-4 in neural blastematous cells and in cylindrical epithelium, whereas all 16 mature teratomas were devoid of GATA-4. We conclude that GATA-4 is a clinically useful marker of human YSTs and speculate that it may play a role in the maintenance of the malignant phenotype.
Combined treatment with preoperative chemotherapy and surgical resection is the universally accepted effective treatment of mediastinal yolk sac tumors. However, a problem on the need and efficacy of lymph node dissection in mediastinal yolk sac tumors has been not enough discussed in the past. We reported a case of mediastinal yolk sac tumor with nodal metastasis. As described in this paper, the resection of the primary lesion including the regional lymph nodes en bloc should be recommended for mediastinal yolk sac tumors.
OBJECTIVES: The value of surgical intervention in the management of intracranial germ cell tumors remains controversial. PATIENTS: We report three patients who presented with rapid deterioration of consciousness but resulted in complete remission of the tumor after emergency surgery for both diagnostic (biopsy) and therapeutic (for hydrocephalus) purposes followed by prompt initiation of radiochemotherapy. CONCLUSION: For management of these rapidly deteriorating patients, immediate histological verification and avoidance of delay in the induction of radiochemotherapy are essential. Thus, emergency surgery with a less invasive procedure is the first choice of treatment, i. e., endoscopic surgery for pineal region tumor and CT-guided biopsy for basal ganglia tumor.
We report a case of testicular yolk sac tumor in a child aged 3 years and 6 months with multiple bulky metastases to lung and retroperitoneum (stage IIIB2). After three courses of chemotherapy with a PVB regimen (cisplatin, vinblastine and bleomycin), complete and partial responses were obtained for lung and retroperitoneal lymph node metastases, respectively. The patient was followed-up closely. However, on the basis of a re-elevated alpha-fetoprotein (AFP) after 4 months' follow-up, he was treated with three courses of salvage chemotherapy with a modified VAB-6 regimen (cyclophosphamide, etoposide, actinomycin D, bleomycin and cisplatin), followed by retroperitoneal lymph node dissection. Histologically, only necrotic tissue was found. There is no evidence of recurrence 24 months after lymphadenectomy. There is very little information in the literature on the appropriate management of postchemotherapy residual mass in pediatric testicular tumors.
Serum alpha-fetoprotein (AFP) subfraction profile is a predictive indicator for the discrimination of hepatic malignancies, benign liver diseases and yolk sac tumor in adults. In the present study, AFP subfractions were examined in AFP-positive sera from 59 patients of less than 15 years of age. Fractionation of AFP was carried out by lectin affinity crossed-line immunoelectrophoresis. Concanavalin A, Lens culinaris hemagglutinin and phytohemagglutinin E were used as lectins. Fifty-four of 59 (91.5%) AFP subfraction profiles in patients with pediatric diseases were classified into three common types: (1) benign liver disorder, (2) hepatic malignancy and (3) yolk sac tumor. An atypical AFP subfraction profile resembling hepatic malignancy type was found in 5 of 59 (8.5%) infants. It was concluded that estimation of serum AFP subfraction profiles facilitates differential diagnosis of various AFP-positive pediatric diseases, such as hepatoblastoma, hepatoma, hepatic cirrhosis, hepatitis or germ cell tumors.
Of the 212 patients with yolk sac tumors of the testis registered in the prepubertal testis tumor registry of the American Academy of Pediatrics, Section on Urology, we report on 33 who presented with metastatic disease. Metastases occurred to the retroperitoneum alone in 9 cases, sites consistent with hematogenous spread of disease alone in 13, sites consistent with lymphatic and hematogenous spread in 6, and sites not clearly documented in the registry in 5. These findings, which show a hematogenous predilection in the spread of metastases, suggest that retroperitoneal lymph node dissection has no routine role in the treatment of the child who presents with yolk sac tumor of the testis.
A case of pineal region tumor in a 9-year-old boy with a high serum alpha fetoprotein (AFP) level is reported. The serum levels of beta-human chorionic gonadotropin (HCG) and placental alkaline phosphatase (PLAP) were not elevated. The tumor was composed of radiologically different components and was removed surgically. Postoperative radiation therapy was performed and the serum level of AFP gradually declined to the normal range. The pathological diagnosis was immature teratoma, and no elements of yolk sac tumor or embryonal carcinoma were found. In the immunohistochemical study, AFP was detected in the cytoplasm of gastrointestinal-type epithelium and primitive neuroepithelial element. This is considered a rare case of intracranial immature teratoma in which AFP was detected immunohistochemically in the columnar epithelium and immature neural tissue.
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Serum lactate dehydrogenase isoenzyme 1 catalytic concentration (S-LD-1) was measured at the time of orchiectomy in 104 patients with nonseminomatous testicular germ cell tumors (NSTGCT) clinical stage I who participated in a randomized study comparing surveillance after orchiectomy (group I) and radiotherapy (group II). For 68 patients, S-LD-1 was measured in a serum sample before or on the day of the orchiectomy. Twenty-seven patients (40%) had elevated S-LD-1; median 102 U/L (range 41-335). For the remaining 36 patients. S-LD-1 was measured in a serum sample after orchiectomy: 8 of these patients (22%) had elevated S-LD-1. S-LD-1 was normalized shortly after surgery in most patients with a preorchiectomy elevated S-LD-1. Fifteen of the 68 patients relapsed: 9 out of 27 with an elevated S-LD-1 and 6 out of 41 patients with normal S-LD-1 (p = 0.13, Fisher's exact test). In group 1, those with a preoperatively elevated S-LD-1 had a lower 8-years' relapse-free survival than those with a normal S-LD-1 (40% vs. 80%, p = 0.003, log-rank test). The role of S-LD-1 in the staging, prognostication and monitoring of patients with NSGCT clinical stage I should be further explored in a large, prospective study.
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OCT4 (POU5F1) is a transcription factor expressed in embryonic stem and germ cells and is involved in the regulation and maintenance of pluripotency. It has been detected in primary testicular germ cell tumors with pluripotent potential, seminoma, and embryonal carcinoma. We undertook immunohistochemical staining of OCT4 in a wide variety of primary testicular neoplasms (germ cell tumors and other tumors) to assess the specificity and usefulness of this marker as a diagnostic tool. We examined histologic sections from 91 primary testicular neoplasms, including 64 cases of mixed germ cell tumors containing embryonal carcinoma (54), seminoma (51), yolk sac tumor (38), mature teratoma (31), immature teratoma (20), and choriocarcinoma (15). In addition, we examined sections from spermatocytic seminomas (5), Leydig cell tumors (8), Sertoli cell tumors (6), unclassified sex-cord stromal tumors (4), adenomatoid tumors (2), testicular tumor of adrenogenital syndrome (1), and granulosa cell tumor (1). Each tumor was examined with hematoxylin and eosin staining and with antibodies to OCT4. In all cases of mixed germ cell tumor with components of embryonal carcinoma (54) and seminoma (51), there was greater than 90% nuclear staining of the embryonal carcinoma and seminoma tumor cells with little to no background staining. In all but 1 of these cases (embryonal carcinoma), there was strong (3+) staining intensity. The other germ cell tumor components (yolk sac tumor, mature teratoma, immature teratoma, and choriocarcinoma) showed no staining. Syncytiotrophoblast cells, which were present in 15 of the cases, were also completely negative, as were all 5 of the spermatocytic seminomas. The 22 cases of non-germ cell tumors were all immunohistochemically negative for OCT4. Fifteen of the 54 germ cell tumors containing embryonal carcinoma were also examined with antibodies to CD30. These embryonal carcinoma components were all positive for CD30 with staining of greater than 90% of the tumor cells but with variable staining intensity. We conclude that immunostaining with antibodies to OCT4 is a useful diagnostic tool in the identification of primary testicular embryonal carcinomas and "usual," but not spermatocytic, seminomas. OCT4 immunostaining has comparable sensitivity but greater consistency compared with CD30 in the diagnosis of embryonal carcinoma.
A rare case of CA19-9-producing testicular tumor is reported. A 37-year-old male who had complained of high fever and right scrotal swelling was referred to our department. Ultrasonography and computed tomography demonstrated a right testicular tumor with right lung metastasis and aortocaval lymph node metastasis. Right high orchiectomy was performed. The histopathological diagnosis was mixed type of teratoma, yolk sac tumor, embryonal carcinoma and seminoma. Immuno-histochemical analysis showed CA19-9 to be expressed in the cancer cells. After 5 courses of combination chemotherapy, the operation for right lung metastasis was performed. The CA19-9 level was lowered to the normal range within four weeks after the first operation. He has been free of recurrence for about 18 months after the lung operation.
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