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PubMed2001

Multidisciplinary treatment of advanced testicular tumor with bulky liver metastasis.

A 21-year-old man with far-advanced nonseminomatous germ cell tumor of the left testis is presented. He had multiple bulky metastases in the liver and retroperitoneum with an extraordinarily elevated serum alpha-fetoprotein (23,500 ng/ml). He received multidisciplinary treatment consisting of systemic chemotherapy, cytoreductive left hepatic lobectomy, percutaneous ablation therapy, transarterial chemoembolization, and external beam irradiation for median segments of the liver. The efficient combination treatment normalized the tumor markers within 6 months and has maintained complete serological remission for 4.7 years.

Adult↗

PubMed1993

[DNA ploidy of testicular germ cell tumors in childhood; difference from adult testicular tumors].

It is well known that there are various differences in the biological characteristics and clinical behavior between prepubertal testicular germ cell tumors and adult ones. We analyzed the nuclear DNA ploidy of testicular tumors in childhood using DNA flow cytometry for clarifying those biological features and shedding some insights in the pathogenesis of testicular germ cell tumors. Formalin-fixed, paraffin-embedded specimens of primary tumors taken from 9 boys with histological evidence of yolk sac tumors and 8 with prepubertal teratoma treated in our clinic were used for flow cytometry analysis with some modification of the Hedley's technique. The results were compared with those of adult testicular tumors which we previously reported. All specimens in children showed "DNA euploid"; DNA diploid in all teratomas and 6 yolk sac tumors, DNA tetraploid in other 3 yolk sac tumors. Neither distinct DNA aneuploidy nor DNA heterogeneity were detected in children. Our previous study proved that the vast majority of adult testicular tumors contain DNA aneuploid stemlines. Although prepubertal yolk sac tumor and teratoma are histologically identical with those in adults, this study apparently reveal the different DNA stemline ploidy in prepubertal testicular tumors compared with that in adult ones. It has been known that carcinoma in situ (CIS) of the testis is a precursor of adult testicular germ cell tumors and the CIS cells in precancerous state already shows aneuploid DNA histogram patterns. Moreover, CIS has never been observed in children. The current results are in agreement with the hypothesis that the pathogenesis of prepubertal testicular tumor is different from that of adult ones.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

PubMed1997

Yolk sac tumor of the ovary in a conjoined twin.

A 5-year-old conjoined twin girl had a yolk sac tumor of the right ovary. She was admitted to our hospital because of abdominal distension. Comprehensive clinical and radiological investigations revealed a tumor of the right ovary. She underwent right salpingo-oophorectomy. The diagnosis was yolk sac tumor (stage I A), and postoperative chemotherapy (vincristine, actinomycine-D, cyclophosphamide) according to the UK-CCSG was provided. The postoperative course was uneventful with no evidence of recurrence 3 years after surgery. Her twin sister had no tumor. This is the first reported of yolk sac tumor of the ovary in a conjoined twin.

Child, Preschool↗

PubMed2003

Schinzel-Giedion syndrome with sacrococcygeal teratoma.

A case of Schinzel-Giedion syndrome, a rare malformation syndrome, is described. In addition to the classic features of the syndrome, the patient had a malignant sacrococcygeal teratoma and agenesis of the corpus callosum. So far, this patient is the fifth case with a sacrococcygeal tumor and the eighth with anomalies of the corpus callosum. According to this occurrence of uncommon tumors, risk of malignancy could be a component of Schinzel-Giedion syndrome.

Abnormalities, Multiple↗

PubMed1999

Expression of the RNA component of human telomerase in adult testicular germ cell neoplasia.

BACKGROUND: During human development, telomerase is repressed in most somatic cells, whereas it is maintained in male germline cells. Reactivation of telomerase has been associated with somatic cancers. To the authors' knowledge, the role of telomerase in germ cell derived malignancies has not previously been evaluated. METHODS: A radioactive in situ hybridization method was used to study the expression of the RNA component of human telomerase (hTR) in 22 cases of adult testicular germ cell neoplasia encompassing all major histomorphologic types. For precise cell identification, hTR in situ hybridization was combined with immunohistochemistry in select cases. RESULTS: Testicular germ cell tumors showed differential expression of hTR. The highest level of expression was seen in embryonal carcinoma. Seminoma and unclassified intratubular germ cell neoplasia exhibited moderate levels of expression. Yolk sac tumor was characterized by a range of expression, which mirrored its morphologic variation. Immature teratoma recapitulated the down-regulation of telomerase manifested during human embryogenesis. Mature teratoma represented the adult pattern of somatic repression. Notably, choriocarcinoma showed modest expression. The expression of spermatocytic seminoma was intermediate between that of classic seminoma and embryonal carcinoma. No difference in expression was evident between matching intratubular and invasive components. In nonneoplastic testis, hTR expression was down-regulated during spermatogenesis and was absent in spermatozoa. Expression was negligible in rete testis and interstitial Leydig cells, and low in epididymis. Unexpectedly, Sertoli cells, which are testicular accessory somatic cells, displayed the most intense expression observed in this study. CONCLUSIONS: In testicular germ cell tumors of young adults (and during spermatogenesis), hTR expression is down-regulated with differentiation, irrespective of the aggressiveness of the tumors. Spermatocytic seminoma, regarded as a low grade malignancy, shows moderately intense expression.

Adult↗

PubMed2006

Primary spinal yolk sac tumor with brain metastasis: case report and review of the literature.

OBJECT: Central nervous system primary germ cell tumors are typically pineal or suprasellar. Primary germ cell tumors of the spinal axis are very rare, with only a few case reports of germinomas and teratomas described in the literature. METHODS: We present the unique case of a 25-year-old woman with an intradural, extramedullary primary yolk sac tumor (YST) at and below the level of the conus medullaris. The patient was treated with a subtotal resection and within a month had rapid regrowth of her YST. She was subsequently treated with four cycles of chemotherapy (intravenous cisplatin and etoposide), 40-Gy fractionated focal external beam radiation to the spine, and consolidation with four additional cycles of chemotherapy (intravenous carboplatin, vinblastine, etoposide, and bleomycin). Despite an initial reduction in tumor size and clinical improvement in her neurologic exam, she re-presented a year after surgery with gross enlargement of her spinal tumor and CSF dissemination with metastasis to her brain. Despite further chemotherapy and radiotherapy, the patient died from her disseminated YST. CONCLUSIONS: This case demonstrates that primary YSTs may occur in the spine, and like their intracranial counterparts, are associated with poor prognosis and dissemination through the neuroaxis. When feasible (no evidence of CSF dissemination, metastasis, or multifocal disease), optimal treatment includes as extensive resection of tumor as possible followed by adjuvant chemotherapy and radiation. The authors review the available literature on the treatment of intracranial malignant germ cell tumors, extrapolated to apply to the much rarer spinal lesions.

Adult↗

PubMed1994

Ber-H2 expression in testicular germ cell tumors.

Expression of CD30 antigen using the monoclonal antibody Ber-H2 was investigated in 52 testicular tumors: pure seminoma (19 cases), pure embryonal carcinoma (eight cases), and mixed germ cell tumors (25 cases). None of the seminomas expressed Ber-H2, whereas seven of eight pure embryonal carcinomas contained this antigen. In mixed germ cell tumors Ber-H2 was present in none of 10 seminomatous components, none of seven yolk sac tumor components, and 20 of 24 embryonal carcinoma components. Teratomatous elements (16 cases) failed to stain with Ber-H2. Also, foci of intratubular germ cell neoplasia (ITGCN) (31 cases) failed to express Ber-H2. Ber-H2 is useful in distinguishing embryonal carcinoma from seminoma and yolk sac tumor. The failure of expression of Ber-H2 in ITGCN, as in seminoma, supports the close relationship of seminoma with ITGCN.

Adolescent↗

PubMed2005

Yolk sac tumor in a young girl: a case report.

BACKGROUND: Yolk sac tumor is a rare neoplasm characterized by high malignancy given its premature metastasis, that is frequent in adolescence. CASE REPORT: A 21-year-old woman came to our observation for an ovarian cyst (13 cm in diameter). Following salpingo-oophorectomy, it was revealed as a yolk sac tumor by histological diagnosis. The patient exhibited a highly elevated level of alpha1-fetoprotein (AFP) (1156 UI/ml). She is now undergoing chemotherapy treatment. CONCLUSION: This is an interesting case of yolk sac tumor in a young girl, at an age typical for germ cell tumor. AFP represents a valid marker resulting in a useful diagnostic tool.

Adult↗

PubMed1994

Diffuse embryoma of the testis. An immunohistochemical study of two cases.

The authors report the histologic and immunohistochemical findings of two cases of diffuse embryoma of the testis, a distinct form of mixed-germ-cell tumor characterized by diffuse, orderly arrangement of embryonal carcinoma (EC) and yolk sac tumor (YST) with scattered trophoblastic components. The patients were 37 and 38 years old when they presented with a right testicular tumor, which was confined to the testis (stage I) in both cases. Histologically, the tumor was composed predominantly of intimately intermingled EC and YST components in almost equal proportion. The tumor cells were arranged in necklacelike fashion; the EC cells formed glandular structures rimmed by a single cell layer of YST cells. The YST component was highlighted by positive staining for alpha-fetoprotein and strong staining for cytokeratin, whereas the EC component was positive for Ki-1 (BerH2, CD30) antigen, was negative for alpha-fetoprotein, and stained more weakly for cytokeratin. The randomly distributed few trophoblastic elements stained for human chorionic gonadotropin. The patients are alive with no evidence of disease, 11 years and 9 months after surgery, respectively. This newly described but distinct variant of mixed-germ-cell tumor should be differentiated from polyembryoma, which is composed of multiple discrete embryoid bodies.

Adult↗

PubMed2003

Congenital mixed malignant germ cell tumor involving cerebrum and orbit.

Congenital intracranial tumors are rare and only account for 0.5 to 1.5% of all pediatric brain tumors. Teratoma is the most frequently encountered intracranial tumor at birth. Cephalomegaly and hydrocephalus are the usual clinical presentations. Advances in imaging techniques have improved diagnostic accuracy in congenital brain tumors. But the prognosis of a massive intracranial teratoma is always dismal. We report a congenital mixed malignant germ cell tumor in a male fetus at 27 weeks of gestation, with massive involvement of cerebrum and orbit. According to histological and immunohistochemical studies, the tumor was made up of predominantly immature teratoma combined with a yolk sac tumor. To our knowledge, such a combination has not been well documented in the literature.

Adult↗

PubMed1997

[Combined therapy of intracranial germ cell tumors in children].

A retrospective analysis of treatment of 8 children aged 5 to 13 years with intracranial germ cell tumors (3 germinomas, 5 nongerminomatous cell tumors) is reported. All patients were initially operated. Five of them underwent total or incomplete removal of the tumor. After surgery 2 children received radiotherapy alone (1 germinome, 1 nongerminomatous germ cell tumors) and 5 (2 germinomas, 3 nongerminomatous germ cell tumors) combined radio- and chemotherapy. One patient (choriocarcinoma) didn't receive any adjuvant treatment after total tumor removal. All 3 children with germinomas show complete remission for 29, 40 and 93 months. Of 5 patients with nongerminomatous germ cell tumors in 2 the duration of remission was 22 and 53 months and 3 relapsed 4, 12 and 24 months after treatment. The data presented demonstrate that the treatment results of intracranial germ cell tumors in children depend on histologic type of the tumor. Thus, precise tumor type determination is most important for choosing optimally adequate treatment approach.

Adolescent↗

PubMed2006

[Treatment outcome of children and adolescents with germ cell tumor after combined therapy---a report of 44 cases].

BACKGROUND & OBJECTIVE: The overall survival rate of children and adolescents with germ cell tumor is more than 75% after adopting combined therapy. However, the prognosis varies with stage, pathologic type, and primary tumor site. This study was to analyze the clinical characteristics and treatment outcome of children and adolescents with germ cell tumor, and to investigate the prognostic factors and therapeutic strategy. METHODS: Clinical characteristics, treatment outcome, and prognostic factors of 44 children and adolescents with germ cell tumor, treated in Cancer Center of Sun Yat-sen University from Jan. 1997 to Dec. 2005, were analyzed. Survival rate was calculated by Kaplan-Meier method. RESULTS: Of the 44 patients, 25 received adjuvant chemotherapy after operation; 1 received operation alone; 18 received induction chemotherapy. Of the 18 patients, 7 received tumor resection after chemotherapy; 2 patients with primary mediastinal chorioepithelioma with multiple metastases received radiotherapy on residual disease after chemotherapy; 1 patient with postoperative abdominal metastasis and 1 with postoperative lung metastasis achieved complete remission after chemotherapy; 1 patient with mediastinal sinus tumor achieved partial remission after chemotherapy; 6 had poor response to chemotherapy and died of disease progression. Chemotherapy-treated patients received platinum-containing regimens for 2-7 cycles. The median follow-up was 32 months. The overall 3-year survival rate was 84.8%. The 3-year survival rate was 100% for stage I-II patients, 83.3% for stage III patients, 65.6% for stage IV patients, and 66.7% for relapsed patients. For previously untreated patients, the 3-year survival rate was 96.0% for gonadal germ cell tumor patients and 61.0% for extragonadal germ cell tumor patients. CONCLUSION: Surgery combined with platinum-containing chemotherapy can improve efficacy and survival of children and adolescents with germ cell tumor. For the patients with stage IV, relapsed, and metastatic tumors, novel therapeutic regimens with increased dose intensity need further investigation.

Adolescent↗

PubMed1993

False elevations of alpha-fetoprotein associated with liver dysfunction in germ cell tumors.

BACKGROUND: Determination of serum concentration human chorionic gonadotropin (HCG) and alpha-fetoprotein (AFP) is crucial in diagnosis, prognosis, treatment, and follow-up of patients with germ cell tumors. Elevation of these markers almost indicates progression or recurrence of the germ cell tumor. However, an increase in these tumor markers can be produced by several benign causes. METHODS: The authors report nine cases of gonadal germ cell tumors that had increased serum levels of AFP without tumoral progression, recurrence, or residual tumor. RESULTS: The AFP elevations were attributed to liver damage secondary to drugs (chemotherapy, anesthetics, or antiepileptics), virus, or alcoholism. No clinical evidence (or in some cases surgical evidence) of malignant tumor activity was found in any of the patients. CONCLUSIONS: The elevation of serum levels of AFP in patients with germ cell tumors can be produced by liver dysfunction. These elevations must be interpreted with caution to avoid unnecessary treatments.

Adolescent↗

PubMed1995

Yolk sac tumor identified at autopsy after surgical excision of immature sacrococcygeal teratoma.

Although the predictive value of immature elements in sacrococcygeal teratomas in unclear, there are reports of malignant recurrence after surgical resection of immature sacrococcygeal teratomas. The recurrent tumors are presumed to arise from small residual malignant foci not identified at the time of surgical resection. In this report a premature female infant was delivered at 29 week's gestation with a large sacrococcygeal teratoma. The tumor weighed 1,350 g. It was largely cystic with a focal nodular and variegated appearance. Histologically, the tumor was a grade 1 immature teratoma with a predominance of neuroglial elements. No malignant elements were identified in any of 26 sections examined. The infant died intraoperatively of cardiovascular complications related to the large vascular supply of the tumor but had a grossly complete resection of tumor. At autopsy, a small microscopic focus of yolk sac tumor was identified adjacent to the sacrum anteriorly. Had the infant survived, this focus might well have been a source for malignant recurrence.

Autopsy↗

PubMed2003

Ovarian Sertoli-Leydig cell tumor, endometrioid-like yolk sac tumor, and Y-chromosomal material.

Sertoli-Leydig cell tumors (SLCTs) are rare neoplasms, accounting for less than 0.2% of ovarian tumors. The endometrioid-like variant of yolk sac tumor (YST) is very rare, and the most extensive series reported only 8 cases. We present a case of ovarian SLCT with endometrioid-like YST in a patient with a 46,XX karyotype with Y-chromosomal material. A 26-year-old woman had undergone a right salpingo-oophorectomy for SLCT with endometrioid-like YST. Chromosomal analysis revealed a 46,XX karyotype with Y-chromosomal material insertion into chromosome 1. The patient's father and sister, and 7 other paternal relatives (4 male and 3 female) presented the same chromosome variant without evidence of cancer. The YST component relapsed to the right side of the uterine wall and then metastasized to the peritoneum and liver, while SLCT was eradicated with primary surgery. Several chemotherapeutic regimens were totally ineffective to control tumor progression. She died of disease progression 54 months after the diagnosis. We adopted the policy of a close surveillance for ovarian neoplasms for the 22-year-old sister of the patient, who presented the same Y-chromosomal material in her karyotype. In very rare tumors, new methods, based on molecular and cytogenetic models, are requested to define recommended management.

Adult↗

PubMed2004

Primary germ cell tumor of the diaphragm.

The authors present a case of a 2-year-old boy with an abdominal mass, which was later found to be a yolk sac tumor arising from the diaphragm. To the authors' knowledge there has been only 1 previous report of a germ cell tumor arising from the diaphragm. This case illustrates the imaging findings in this rare tumor and how it could be confused with a primary liver neoplasm.

Antineoplastic Combined Chemotherapy Protocols↗

PubMed2003

Hypermethylation of the RUNX3 gene promoter in testicular yolk sac tumor of infants.

Testicular yolk sac tumor (YST) of infants is biologically distinct from its adult counterpart. Cytogenetically, YSTs in infants generally lack i(12p), which is highly characteristic of adult germ cell tumors (GCTs), whereas they frequently show a deletion of 1p36, indicating that the loss of a certain gene(s) in this region is an important event in the pathogenesis of infantile YSTs. In the present study, we examined 10 testicular YSTs from infants for promoter methylation status of the RUNX3 gene, localizing in 1p36.1, and loss of heterozygosity (LOH) in this region, on the presumption that RUNX3 acts as a tumor suppressor. Methylation of RUNX3 and LOH at 1p36.1 were detected in 8 of 10 (80%) and 6 of 8 (75%) infantile YSTs examined, respectively. All six cases harboring LOH showed RUNX3 methylation. In contrast, 0 of 12 adult GCTs showed RUNX3 methylation, and LOH at 1p36.1 was less frequent (1 of 6 cases: 16%) in adult GCTs. There is a significant difference in RUNX3 methylation between these 2 groups (P < 0.001). In normal testes of the young group, RUNX3 methylation was not detected. These results strongly suggest that RUNX3 is one of the tumor suppressors involved in the pathogenesis of testicular YSTs in infants.

Adult↗

PubMed2000

Recurrent arterial embolization from a metastatic germ cell tumor invading the left atrium.

Arterial embolization of a malignant tumor is extremely rare. We report an unusual case of a young adult man who presented with acute lower limb ischemia and a mass in the right lung and left atrium. These clinical manifestations were the result of metastases and embolization from a germ cell tumor and were the first indication of malignancy in this patient. The importance of appropriate investigations in the subsequent treatment is stressed.

Adult↗