An extragonadal yolk sac tumor presumed to be of postmeiotic germ cell origin by genetic zygosity analysis via single nucleotide polymorphism array.

An extragonadal yolk sac tumor (YST) is a rare malignant germ cell tumor that usually occurs in childhood. The pathogenesis of extragonadal YST remains largely unknown, especially with regards to its cell of origin. Herein, we report a case of extragonadal YST arising in the uterine round ligament. A 31-year-old Japanese woman, para 2, underwent partial resection of a left-sided, 5-cm, solid inguinal mass. Intraoperative findings showed enlargement of the uterine round ligament in the inguinal canal. Pathological evaluation diagnosed the mass as YST with a mature teratoma (MT) component. The preoperative α-fetoprotein level was markedly elevated, at 24 790 ng/mL. Postoperative magnetic resonance imaging revealed a right ovarian MT and a 3-cm mass remaining in the left lower abdominal wall. The patient underwent total abdominal hysterectomy, bilateral adnexectomy, and left inguinal mass resection. We sampled three frozen tissues (YST, right ovarian MT, and left normal ovary) and performed a single nucleotide polymorphism (SNP) array. Pathological evaluation revealed remnant extragonadal YST in the left inguinal region. The SNP array demonstrated a completely homozygous YST genotype. Copy number variations were gains of 1p, 1q, 2p, 3p, 7p, 8p, 10q, 14q, 18p, 20q, Xp, and Xq and losses of 12q, 20p, and Xq. The right ovarian MT and left normal ovary were partially homozygous and heterozygous, respectively. The evidence suggests that this neoplasm is presumed to be a postmeiotic germ cell origin.

Revised risk classification for pediatric extracranial germ cell tumors based on 25 years of clinical trial data from the United Kingdom and United States.

PURPOSE: To risk stratify malignant extracranial pediatric germ cell tumors (GCTs). PATIENTS AND METHODS: Data from seven GCT trials conducted by the Children's Oncology Group (United States) or the Children's Cancer and Leukemia Group (United Kingdom) between 1985 and 2009 were merged to create a data set of patients with stage II to IV disease treated with platinum-based therapy. A parametric cure model was used to evaluate the prognostic importance of age, tumor site, stage, histology, tumor markers, and treatment regimen and estimate the percentage of patients who achieved long-term disease-free (LTDF) survival in each subgroup of the final model. Validation of the model was conducted using the bootstrap method. RESULTS: In multivariable analysis of 519 patients with GCTs, stage IV disease (P = .001), age ≥ 11 years (P < .001), and tumor site (P < .001) were significant predictors of worse LTDF survival. Elevated alpha-fetoprotein (AFP) ≥ 10,000 ng/mL was associated with worse outcome, whereas pure yolk sac tumor (YST) was associated with better outcome, although neither met criteria for statistical significance. The analysis identified a group of patients age > 11 years with either stage III to IV extragonadal tumors or stage IV ovarian tumors with predicted LTDF survival < 70%. A bootstrap procedure showed retention of age, tumor site, and stage in > 94%, AFP in 12%, and YST in 27% of the replications. CONCLUSION: Clinical trial data from two large national pediatric clinical trial organizations have produced a new evidence-based risk stratification of malignant pediatric GCTs that identifies a poor-risk group warranting intensified therapy.

Mixed germ-cell testicular tumor in a liver transplant recipient.

The development of malignancies after solid organ transplants is a well-known complication. Cancer is associated with significant consequences for the organ transplant patient. It is expected that cancer will surpass cardiovascular complications as the leading cause of death in transplant patients within the next few years. We report on a 36-year-old male patient who developed mixed germ-cell testicular tumor seven years after liver transplantation for alcoholic cirrhosis. He was treated with orchiectomy, retroperitoneal lymph node dissection and post-operative chemotherapy.

Yolk sac tumor in a patient with transverse testicular ectopia.

Transverse testicular ectopia (TTE) is a rare anomaly in which both testes descend through a single inguinal canal. We report a case of yolk sac tumor in the ectopic testis of a patient with TTE. A 24-year-old man presented to our hospital with a left inguinal-mass, right cryptorchidism and elevated alpha-fetoprotein (AFP). A left herniotomy 3 years earlier demonstrated both testes in the left scrotum, one above another positionally. Four months ago, a left scrotal mass appeared and radical orchiectomy of both testes revealed testicular yolk sac tumor of the ectopic testis. An enlarging left inguinal-mass appeared 2 months ago and he was referred to our hospital. Laboratory data showed an elevation of AFP (245.5 ng/ml) and a 46 XY karyotype. He underwent bilateral retroperitoneal lymph node dissection and simultaneous left inguinal mass dissection. Histopathologic examination revealed a diagnosis of recurrent yolk sac tumor in the left inguinal mass. The retroperitoneal lymph node was not enlarged and, on histopathology, was not involved. The patient has now been followed up for 8 months without evidence of biochemical or radiological recurrence.

Intracranial yolk sac tumor in a patient with Down syndrome.

The authors report a rare case of intracranial yolk sac tumor in a 13-year-old boy with Down syndrome who presented with left hemiparesis. Admission MR imaging revealed a tumor in the right basal ganglia. Serum α-fetoprotein was markedly elevated. Yolk sac tumor was diagnosed radiologically and serologically. The standard therapy for intracranial yolk sac tumor is platinum-based chemotherapy with concomitant radiotherapy. However, the authors used reduced-dose chemotherapy and asynchronized radiotherapy because of the well-known low tolerance of patients with Down syndrome to chemotherapy. This treatment was successful with no complications. Blood cancers are frequently associated with Down syndrome, whereas solid tumors occur less frequently in these patients, and the risk of chemoradiotherapy is unclear. The results indicate that dose-reduction therapy can be effective for treatment of a brain tumor in a patient with Down syndrome.

Neoplasias em gônadas disgenéticas / Neoplasms in dysgenetic gonadal

Conceitualmente, as gônadas disgenéticas são gônadas que não sofreram uma completa diferenciação. Em vista disso, constituem parte de uma ampla gama de entidades clínicas possuidoras de fenótipos e de genótipos diversos. Seus cariótipos contêm o cromossomo Y ou seus fragmentos, ou raramente não os contêm. Essas alterações geram maior risco para a ocorrência de neoplasias nessas gônadas. Na sequência deste estudo apresentamos as neoplasias mais comumente associadas aos diversos tipos de disgenesias gonadais. A neoplasia mais comum é o gonadoblastoma e outros como os disgerminomas e os tumores do seio endodérmico também podem estar associados. A detecção dessas anormalidades de modo precoce é o que nos motivou para a presente revisão

By definition, dysgenetic gonads are those that did not undergo a complete differentiation. They make up a vast array of clinical entities, having different phenotypes and genotypes. Their kariotypes contain the Y chromosome or fragments of it, and, in rare cases, do not contain it. Such alterations generate greater potential for the occurrence of neoplasms in such gonads. This study presents neoplasms which are most commonly associated with several types of gonadal dysgenesis. The most common neoplasia is gonadoblastoma and others like disgerminoma or yolk sac tumors may be associated. The early detection of such potential is the reason for this review

Malignant ovarian germ cell tumors: analysis of 32 cases.

OBJECTIVE: In this study, some clinicopathologic characteristics and the outcome of patients with malignant ovarian germ cell tumors (MOGCT) were evaluated. MATERIALS AND METHODS: The clinical charts and pathologic reports of 32 patients with MOGCT treated at the Department of Obstetrics and Gynecology, and diagnosed at the Department of Pathology, Medical Faculty of Dicle University, Turkey from 1983 to 1999 were reviewed. RESULTS: Thirteen patients (40.6%) had dysgerminoma, nine (28.1%) had immature teratoma (four grade 1, three grade 2, and two grade 3), eight (25%) had endodermal sinus tumor, and two (6.3%) patients had mixed germ cell tumors. Site of involvement was unilateral in 30 (19 on the right and 11 on the left) and bilateral in two. All patients underwent primary surgery and 26 patients combination chemotherapy. There seemed to be a relationship between pathologic findings and clinical outcome, and MOGCT histologic types may affect the prognosis. CONCLUSION: Dysgerminoma had a better prognosis than the nondysgerminomatous group (p < 0.05). This study provides additional data in confirmation of previous reports that management of MOGCT with fertility preservation is safe.

Tumor de senos endodérmicos del ovario con patrón hepatoide predominante y metástasis a hígado / Tumor of endodemic ovarian sinus with prevailing hepatoid pattern and liver metastasis

Se presenta el caso de una mujer de 16 años de edad, con tumor de senos endodérmicos del ovario derecho, macroscópicamente sólido y con patrón histológico de crecimiento predominantemente de tipo hepatoide. Este tumor cursó con metástasis masivas a hígado y ascitis, lo que planteó el diagnóstico diferencial de tumor de senos endodérmicos de tipo hepatoide con metástasis a hígado o carcinoma hepatocelular con metástasis a ovario, o bien un carcinoma hepatoide del ovario. Se considera que éste es el primer caso en los archivos de la Unidad de Patología del Hospital General, en el que un tumor de senos endodérmicos presenta un patrón hepatoide tan extenso.

Cytogenetic analysis of a mature teratoma and a yolk sac tumor component of a late relapse of a disseminated testicular nonseminoma.

We report on the cytogenetics of a primary testicular nonseminoma, a residual mature teratoma after remission-induction chemotherapy, and a late relapse after 9 years of follow-up, in one patient. The late relapse was composed of a mature teratoma and a yolk sac tumor component. Cytogenetic comparison of the different tumors shows that progression of primary testicular nonseminoma to residual mature teratoma and to a late-relapse lesion is accompanied by net loss of chromosomes. In addition, our findings may suggest that transformation to viable cancer in a late-relapse lesion is accompanied by further chromosomal losses.

Intracranial germ cell tumors in children with and without Down syndrome.

PURPOSE: Two Chinese children with Down syndrome affected by intracranial germ cell tumors are described. Because they represent two of eight affected patients in the current series from 1990 to 1996, it is postulated that such occurrence may be more than a coincidental event. PATIENTS AND METHODS: Two children with Down syndrome developed germ cell tumors in atypical intracranial sites that affected basal ganglion and cerebellum. The pathology showed germinoma and yolk sac tumor, respectively. These were treated by radical surgical resection and chemotherapy with cisplatin, etoposide, and bleomycin, but without radiotherapy. RESULTS: One patient survived 3 years without radiologic evidence of tumor. The other died from infective complications caused by severe myelosuppression after chemotherapy. CONCLUSIONS: Subtle neurologic manifestations in developmentally handicapped patients with intracranial space-occupying lesions could result in delayed diagnosis. Children with Down syndrome suffering from brain tumors may have a higher chance for germ cell tumors. Assay for alpha-fetoprotein and beta-human chorionic gonadotrophin could hasten diagnosis in some cases. This observation and review of literature suggest an increased risk of developing intracranial germ cell tumors in subjects with Down syndrome.

Yolk sac tumor of the placenta in Wiedemann-Beckwith syndrome.

The present report describes an example of multifocal (two) yolk sac tumor (YST) with mesenchyme-like and enteroid patterns found in the placenta (730 g) of a newborn (4200 g) with Wiedemann-Beckwith syndrome (WBS) phenotype (macroglossia, omphalocele, hemihypertrophy, cardiomegaly, hypoglycemia). YST has not been previously reported to develop in the placenta. This case expands further the spectrum of alterations found in the placenta in the WBS and fits in the list of tumors related to WBS. ¿KW¿