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Background: Testicular yolk sac tumor (YST) is a rare neoplasm with limited practical guidance for preoperative diagnostic assessment. This study aims to conduct a retrospective analysis of the value of clinical profiles and MRI parameters in accurately diagnosing pediatric testicular YST while exploring characteristic indicators for these patients., Methods: This retrospective study analyzed eighty patients with a testicular mass who underwent surgical treatment and preoperative MRI. Clinical characters (age, preoperative serum alpha-fetoprotein (AFP) levels), and radiology features were recorded and compared. Subsequently, patients were categorized into YST and non-YST groups based on histology. Comparative statistical analyses were then used to compare factors between the two groups. The receiver operating characteristic curve (ROC) analysis was conducted to evaluate the diagnostic performance of the indicators for pediatric testicular YST., Results: Forty patients (50%) were diagnosed with YST. In comparison to the non-YST group, patients with testicular YST were younger and had larger tumor sizes, accompanied by significantly elevated AFP levels. On MRI, most YST cases (n = 38) exhibited predominantly solid lesions, whereas non-YST tumors were more likely to contain cystic components. The bright dot sign and thickened spermatic cord might also be helpful in differentiating YST (p < 0.05). The optimal factor for diagnosing testicular YST was signal intensity, with an AUC value of 0.936 (95%CI: 0.877 ~ 0.995)., Conclusions: A predominantly solid testicular mass with a bright dot sign, thickened spermatic cord ipsilaterally, and elevated AFP levels should raise suspicion for YST., Competing Interests: Declarations. Ethics approval and consent to participate: Ethical approval: The studies involving human participants were reviewed and approved by the Medical Ethics Committee of the local hospital (No. 2022021). Consent to participate: All the participants and guardians of adolescents signed a written informed consent form after receiving a complete study description. Competing interests: The authors declare no competing interests., (© 2024. The Author(s).)

Purpose: To evaluate the association between serum alpha-fetoprotein (AFP) half-life (HL) and prognosis in prepubertal children with elevated AFP values 3 to 4 weeks after surgery for testicular yolk sac tumors (YST)., Methods: Prepubertal patients with testicular YST treated with radical orchiectomy between January 2016 and December 2022 were retrospectively reviewed. Negative outcomes were defined as relapse, metastasis or death. Univariate and multivariate logistic regression analyses were conducted to select risk factors for negative outcomes., Results: A total of 42 patients were eventually enrolled into the study. Patients were divided into non-negative and negative outcomes groups, consisting of 35 and 7 patients, respectively. Thirty-five patients were stage I, two cases were stage II, and five cases were stage IV, according to the Children's Oncology Group staging system. The overall survival (OS) rate was 100%. Average AFP values significantly decreased after resection (P < 0.001). A significant positive correlation was shown between pre- and postoperative AFP values (r = 0.60, P < 0.001). Long AFP HL was considered as an independent risk factor for negative outcomes in YST patients underwent radical orchiectomy (P = 0.04). The cut-off value for AFP HL was 5.78 days, regardless of age division., Conclusion: Testicular YST is a relatively rare disease in children with an OS of 100%, and salvage chemotherapy is effective even in grade IV patients. The postoperative AFP HL was significantly associated with prognosis in prepubertal patients with testicular YST. The cut-off value for AFP HL is 5.78 days regardless of the effect of physiological AFP elevation., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Environmental endocrine disruptors (EEDs) are natural or synthetic chemical compounds that interfere with normal endocrine function in both wildlife and humans. Previous studies have indicated that EEDs may contribute to oncogenesis. This study explores the relationship between EEDs and pediatric germ cell tumors (GCTs). A case-control study was conducted in 84 pediatric patients from 2014 to 2017, including 42 subjects with immature teratoma, yolk sac tumor, or germinoma, and 42 controls who experienced pneumonia or trauma. Serum PFASs, including PFBS, PFHpA, PFHxS, PFOA, PFOS, PFNA, PFDA, PFUA, PFOSA, and PFDoA, were measured in each subject, and their history of possible EED exposure was reviewed. Six of the 10 measured PFASs were significantly increased in the GCT group relative to the control group. With respect to lifestyle history, only PFHxS levels were statistically significantly associated with GCTs as determined by logistic regression analysis. The odds ratio for a 1 ng/L increase in PFHxS was 19.47 (95% CI: 4.20-90.26). Furthermore, in the GCT and control groups, both parental consumption of barbecued foods and hair dye use among parents were significantly correlated with elevated serum PFHxS levels (ρ = 0.383, 0.325 in the patient group and ρ = 0.370, 0.339 in the control group; p < 0.05). Our study confirmed that children with GCTs from our institute had relatively high serum levels of PFASs relative to those of tumor-free pediatric patients. Serum PFHxS levels were independently associated with germ cell tumor occurrence., Competing Interests: The authors declare that they have no conflicts of interest.

Context: Pituitary microadenomas and adrenal tumours are the most common causes for endogenous Cushing syndrome (CS) in children., Case Description: We describe a two-year old girl with Cushing syndrome due to ectopic pro-opiomelanocortin (POMC) production from an abdominal yolk sac tumor. Cortisol concentrations were elevated but adrenocorticotropic hormone (ACTH) concentrations were equivocal. The use of antibodies specifically detecting ACTH precursors revealed that plasma ACTH precursors were elevated. Additionally, an ACTH assay with a low cross-reactivity for precursors showed low concentrations of ACTH. Immunohistochemistry suggested POMC but not ACTH production by the tumour., Conclusion: We describe a yolk sac tumour as a novel source of ectopic POMC production leading to CS in a young girl., (© 2017 European Society of Endocrinology.)

Background: The ovarian yolk sac tumor (OYST) is a very rare malignancy arising in young women. Our objective was to determine whether an early decline in serum alpha-fetoprotein (AFP) during chemotherapy has a prognostic impact., Methods: This retrospective study is based on prospectively recorded OYST cases at Gustave Roussy (Cancer Treatment Center). Survival curves were estimated using the Kaplan-Meier method. The serum AFP decline was calculated with the formula previously developed and validated in male patients with poor prognosis non-seminomatous germ cell tumors. Univariate and multivariate analyses were performed using the log-rank test and logistic regression, respectively., Results: Data on AFP were available to calculate an early AFP decline in 57 patients. All patients had undergone surgery followed by chemotherapy. The 5-year overall survival (OS) and event-free survival (EFS) rates were 86% (95% CI: 74%-93%) and 84% (95% CI: 73%-91%), respectively. The disease stage, presence of ascites at presentation, use of the BEP regimen, serum AFP half-life and an early AFP decline were significantly predictive factors for OS and EFS in the univariate analysis. The OS rate was 100% and 49% (95% CI: 26%-72%) in patients with a favorable AFP decline and in those with an unfavorable decline, respectively (p<0.001). In the multivariate analysis, only the presence of ascites at diagnosis (RR=7.3, p=0.03) and an unfavorable early AFP decline (RR=16.9, p<0.01) were significant negative predictive factors for OS., Conclusions: An early AFP decline during chemotherapy is an independent prognostic factor in patients with OYSTs., Conflict of Interest Statement: No conflict of interest., (Copyright © 2016. Published by Elsevier Inc.)

Background: The current biomarkers alpha-fetoprotein and human chorionic gonadotropin have limited sensitivity and specificity for diagnosing malignant germ-cell tumours (GCTs). MicroRNAs (miRNAs) from the miR-371-373 and miR-302/367 clusters are overexpressed in all malignant GCTs, and some of these miRNAs show elevated serum levels at diagnosis. Here, we developed a robust technical pipeline to quantify these miRNAs in the serum and cerebrospinal fluid (CSF). The pipeline was used in samples from a cohort of exclusively paediatric patients with gonadal and extragonadal malignant GCTs, compared with appropriate tumour and non-tumour control groups., Methods: We developed a method for miRNA quantification that enabled sample adequacy assessment and reliable data normalisation. We performed qRT-PCR profiling for miR-371-373 and miR-302/367 cluster miRNAs in a total of 45 serum and CSF samples, obtained from 25 paediatric patients., Results: The exogenous non-human spike-in cel-miR-39-3p and the endogenous housekeeper miR-30b-5p were optimal for obtaining robust serum and CSF qRT-PCR quantification. A four-serum miRNA panel (miR-371a-3p, miR-372-3p, miR-373-3p and miR-367-3p): (i) showed high sensitivity/specificity for diagnosing paediatric extracranial malignant GCT; (ii) allowed early detection of relapse of a testicular mixed malignant GCT; and (iii) distinguished intracranial malignant GCT from intracranial non-GCT tumours at diagnosis, using CSF and serum samples., Conclusions: The pipeline we have developed is robust, scalable and transferable. It potentially promises to improve clinical management of paediatric (and adult) malignant GCTs.

Yolk sac tumors are testicular germ-cell tumors of the non-seminoma type. In cattle, this neoplasm is very rare and to date has only been described three times. In human males, it usually occurs in infants and children. Immunohistochemistry provides solid criteria for diagnostics. Especially present pathognomonic Schiller-Duval bodies are helpful for identification. In this report, a 32-day-old Holstein Friesian calf presented with a highly enlarged right testis. Sonographic examination was performed and blood samples were taken to measure testosterone and estrogen levels. Furthermore, the testis was surgically removed and macroscopically, histologically, and immunohistochemically examined which lead to the diagnosis of testicular yolk sac tumor. The second testis was descended until the age of nine months and histology revealed impaired spermatogenesis. This report provides the first sonographic images of bovine testicular yolk sac tumor as well as the first information about hormone levels in calves with this neoplasm. It also shows the importance to combine anamnesis, histomorphological, and immunohistochemical findings in order to diagnose yolk sac tumors when pathognomonic structures are not present.

Primary YST of the endometrium is very rare, therefore there is no guideline for treatment. We report two cases of endometrial YSTs presenting different symptoms and showing different prognoses and discuss the clinical management of these tumors. The present report shows first time that bone and lung metastasis in primary YSTs of endometrium. As the number of reported cases with endometrial YSTs, more information about the prognosis of the disease may be obtained.

Malignant sacrococcygeal yolk sac tumor is a rare extra-gonadal germ cell tumor of infancy and childhood. We report the case of a 14-month-old white female infant with a rapidly growing supra-gluteal mass at first misdiagnosed as hemangioma after a clinical assessment. The lesion was then classified as extra-gonadal yolk sac tumor due to alarming ultrasound features, later confirmed at MRI and pathology. This report remarks the need of a rigorous methodology in the ultrasound exploration of the gluteal region.

Malignant germ cell tumors of the ovary are very rare and account for about 2-5% of all ovarian tumors of germ origin. Most patients are adolescent and young women, approximately two-thirds of them are under 20 years of age, occasionally in postmenopausal women. But clear cell carcinoma usually occurs in older patients (median age: 57-year old), and closely related with endometriosis. Here we report a case of a 55-year old woman with right ovarian mass that discovered by B ultrasonic. Her serum levels of human chorionic gonadotropin (hCG) and α-fetoprotein (AFP) were elevated. Pathological examination revealed the tumor to be a mixed germ cell tumor (yolk sac tumor, embryonal carcinoma and mature teratoma) with clear cell carcinoma in a background of endometriosis. Immunohistochemical staining showed SALL4 and PLAP were positive in germ cell tumor area, hCG, CD30 and OCT4 were positive in epithelial-like cells and giant synctiotrophoblastic cells, AFP, AAT, CD117 and Glyp3 were positive in yolk sac component, EMA and CK7 were positive in clear cell carcinoma, CD10 was positive in endometrial cells of endometriotic area. She was treated with surgery followed by seven courses of chemotherapy. She is well and serum levels of hCG and AFP have been decreased to normal levels.

We report the case of a 19-year-old woman experiencing lower abdominal distension and pain. Laboratory tests indicated elevated serum levels of Alpha-Fetoprotein (AFP) and human Chorionic Gonadotropin (hCG). A large mass was detected in the abdomen by physical examination and by transvaginal ultrasonography. Exploratory laparotomy was performed, and a smooth-surfaced, spherical, solid tumor was found on the left ovary, measuring 11.5 x 9.9 x 6.9 cm. Histological evaluation revealed that the tumor consisted of a combination of immature teratoma, Yolk Sac Tumor, and embryonal carcinoma; this is a very rare combination in mixed germ cell tumors.

The yolk sac tumor is one of the most common malignant germ cell tumors in young children and typically occurs in the gonads. We report 6 cases of children less than 30 months old with extragonadal atypical locations of yolk sac tumor. These rare diagnoses were established by raised serum α-fetoprotein levels and biopsies. These patients were treated according to the French TGM 95 trial. All the patients are alive disease-free after ≥2.5 years of follow-up. We want to highlight the importance of measuring the α-fetoprotein levels in very young children presenting with any midline tumor, even if the tumor is not located in the typical extragonadal sites such as the sacrococcyx, mediastinum, retroperitoneum, or vagina.

Objective: The aim of the study was to identify the role of neoadjuvant chemotherapy (NACT) in the treatment of the patients with advanced stage ovarian yolk sac tumor (OYST)., Methods: The comparative study was based on 53 cases with advanced stage OYST registered at Peking Union Medical College Hospital from 1995 to 2010. Twenty one cases were treated with NACT followed by interval debulking surgery (IDS). Thirty two cases were treated with primary debulking surgery (PDS). Data on patient characteristics, treatment and survival were analyzed and compared between two groups to assess the outcome of NACT., Results: After NACT, the overall status of the patients was improved significantly. Patients in NACT had better optimal cytoreduction rate and less peri-operative morbidities. Seven patients (13.2%) suffered from relapse. There was a significantly better PFS for patients with ovarian tumor size >20cm in the NACT than those underwent PDS. Residual disease >2cm was the independent risk factor of relapse., Conclusions: NACT is the better treatment option for some patients with advanced stage OYST, especially for those with unresectable tumors and poor general condition., (Copyright © 2014. Published by Elsevier Inc.)

Background: Primary yolk sac tumour of the liver is extremely rare, and when it occurs in a young child it can be confused with hepatoblastoma., Objective: To present a retrospective case series of primary hepatic yolk sac tumour from two institutions to highlight the imaging features., Materials and Methods: We conducted a retrospective review of pathological and imaging findings in biopsy-proven pure primary yolk sac tumour of the liver., Results: A total of three children (15 months to 6 years) presented between 2006 and 2012 with primary hepatic yolk sac tumour. Two children presented with acute abdomen after minor trauma caused by tumour rupture and haemoperitoneum. We identified five additional paediatric cases of pure hepatic yolk sac tumour with descriptions of imaging findings in the literature. In seven of these eight children, central necrosis was seen on cross-sectional imaging., Conclusion: Primary yolk sac tumour should be considered as an alternative diagnosis to hepatoblastoma in a young child with a large liver mass and significantly raised serum alpha-foetoprotein, but in view of the nonspecific imaging features histological examination is essential for diagnosis. Although there are no specific imaging findings of primary yolk sac tumour, presence of cystic or necrotic areas and a tendency for tumour rupture are suggestive features.

Objective: Prepubertal testicular tumors are rare and fundamentally distinct from adult testicular tumors. We reviewed our 11-year experience in a single medical center of China., Material and Methods: This study reports the clinical characteristics, histopathologic diagnosis, treatment methods, and outcome in a series of 63 prepubertal boys who were treated between 1997 and 2008., Results: A total of 63 primary prepubertal testicular and paratesticular tumors were identified. The median age at presentation was 11 months. Of these tumors, 27 (42.9%) were mature teratomas, 5 (7.9%) were immature teratomas, 21 (33.3%) were yolk sac tumors, 4 (6.3%) were epidermoid cyst, 2 (3.2%) were Leydig cell tumors, 1 (1.6%) was a mixed malignant germ cell tumor, and 3 (4.8%) were paratesticular tumors. The most common clinical presentation (95.2%) was a painless scrotal mass or swelling. Forty-eight tumors were treated with radical inguinal orchiectomy, and 15, with a testis-sparing procedure. Follow-up was available in 59 cases, range from 4 to 128 months (median, 50 months). One patient with yolk sac tumor had recurrence and progression to metastasis at the end of 4 months after surgery. Other patients were disease free at last follow-up., Conclusions: Most of the prepubertal testicular lesions were benign, and the most common histologic subtype was teratoma. Our experience with testis-sparing procedures supports the current trends that less invasive treatment should be performed for benign lesions. This study confirms the excellent cure rates obtained in children with prepubertal testicular tumors., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Objective: Six cases of endodermal sinus tumor (EST) of the vagina were reported focusing on the results of conservative treatment and outcome of long-term follow up., Methods: We reviewed a cohort of six cases with EST of the vagina diagnosed and treated in our hospital. CT scan, detection of serum AFP level, examination under anesthesia and biopsy were performed before and after treatment to evaluate the tumor status. The diagnoses were confirmed by pathological and imaging findings. All patients were treated with bleomycin, etoposide and cisplatin (BEP) combination chemotherapy alone. Complete remission (CR) includes the normal level of serum AFP, no tumor detected by CT scan and the negative result of pathology. Long-term follow up was carried out according to our regulation., Results: The mean onset age was 18.2 months. The average tumor size was 4.5 cm. Serum AFP level was markedly elevated before treatment and decreased dramatically after chemotherapy and drop to the normal level after two to three courses of chemotherapy (average 2.5 courses). The patients received averagely six courses of chemotherapy and all the six patients obtained CR. The mean follow-up time is 75.5 months and there was no evidence of recurrent disease., Conclusion: The result of this conservative treatment for EST of the vagina is excellent. BEP chemotherapy without surgery should be considered as a good choice of treatment. Close follow up with serial determinations of serum AFP level together with imaging tests and physical examination in the first two years of follow-up are recommended., (Copyright © 2011 Elsevier Inc. All rights reserved.)

Although yolk sac tumors (YSTs) are the second most common malignant germ cell tumor of the ovary, those arising from the omentum or pelvic peritoneum are extremely rare and have no established treatment guidelines. We report a case of a primary YST disseminated throughout the abdomen and associated with a high serum alpha-fetoprotein (AFP) elevation (441 611 ng/ml). Optimal cytoreduction was not achieved in order to preserve the patient's fertility and avoid adjacent organ injury. Residual tumor responded to adjuvant chemotherapy with a sharp decline in AFP levels, and confirmed remission was documented by serial (18)F-fluorodexyglucose-positoron emission tomography and computerized tomography (FDG-PET/CT). In cases of advanced YST with unresectable residual disease, AFP levels combined with FDG-PET/CT scans may be a helpful way to monitor treatment response and assist in treatment planning for a disease that primarily affects young women who may desire to preserve fertility., (© 2012 The Authors. Journal of Obstetrics and Gynaecology Research © 2012 Japan Society of Obstetrics and Gynecology.)

Extragonadal yolk sac tumors are uncommon and usually seen in sacrococcygeal, mediastinal, intracranial, and retroperitoneal sites. Yolk sac tumors of the head and neck region are rare, and the few reported cases have arisen in neonates or infants in conjunction with a teratoma or other germ cell tumor subtypes. We report a unique case of a pure yolk sac tumor presenting as a primary lesion in the right thyroid lobe of a 10-year-old girl. The diagnosis was suspected after fine-needle aspiration, and extensive sampling of the thyroidectomy specimen revealed no teratoma or other germ cell tumor. Serum α-fetoprotein levels were markedly elevated 6 days after excision, and imaging disclosed numerous bilateral pulmonary nodules suggestive of metastatic disease but did not reveal a mediastinal mass. The tumor has shown a favorable response to bleomycin, etoposide, and cisplatin chemotherapy. To the best of our knowledge, this is the 1st description of a primary pure yolk sac tumor of the thyroid.

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.

We present the case of a large yolk sac tumour of the ovary in a 14-year-old girl with high level of serum alpha-feto-protein (AFP). Multidisciplinary care is important to do appropriate surgical treatment with the aim of fertility preservation., (Copyright © 2010 Elsevier Masson SAS. All rights reserved.)

Background: A case of vaginal endodermal sinus (yolk sac) tumor resulting in hydrometra in a 9-month-old female infant is reported., Case: The patient presented with an intermittent bloody discharge on her diapers and a lower abdominal mass on palpation. Multidetector-row computed tomography showed an irregular, dense soft-tissue mass with heterogeneous enhancement within the vagina, obstructing it. On reformatted computed tomography images, there was upstream dilatation of the cervical and uterine cavities, with fluid attenuation contents called hydrometra, resulting from the vaginal obstruction. The histopathological features of the vaginal mass were identical to those of the endodermal sinus tumor (yolk sac tumor). The patient was treated exclusively by means of chemotherapy., Conclusion: Examination of the alpha-fetoprotein levels was useful in the diagnosis of the patient and in assessing the patient's response to treatment by chemotherapy., (Copyright 2010 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)

While yolk sac tumor is one of the most common malignant germ cell tumors occurring in young children, it is rarely found in extragonadal sites. We report a case of intraocular yolk sac tumor in a 4-year-old boy. The diagnosis was confirmed by histologic examination and by the rapid normalization of serum alpha-fetoprotein level following enucleation. We propose that yolk sac cells can potentially migrate into the eye at 22 days of embryonic life during neural tube formation, when the head and tail of the neuropore open contemporaneously and communicate with the amniotic cavity.

Primary yolk sac tumor of the liver is an extremely rare neoplasm, with fewer than 20 cases reported. We evaluated 2 pediatric cases (21-month-old and 23-month-old female patients), who presented with liver masses and markedly raised serum alpha-fetoprotein (AFP). One patient received a partial hepatectomy and another patient underwent a liver biopsy, both of which showed characteristic features of yolk sac tumor, with tumor cells staining strongly positive for AFP. There was no evidence of an extrahepatic primary source. Both of our patients have been healthy, without evidence of recurrent tumor, and their AFP level remains in the normal range after their chemotherapeutic treatments.

Gastric yolk sac tumors are extremely rare and their prognosis is poor; most patients have widespread metastases at the time of diagnosis. The treatment of gastric yolk sac tumors consists of aggressive chemotherapy combined with radiotherapy and surgery. Here, we first report a case of gastric yolk sac tumor presenting as an early gastric cancer that was cured after a gastrectomy with lymphadenectomy.

Background & Objective: At present, pediatric testicular yolk sac tumor is hard to be diagnosed at early stage, and the treatment strategy for this disease after radical inguinal orchiectomy is uncertain. This study was to summarize our experience in diagnosing and treating clinical stage I pediatric testicular yolk sac tumors., Methods: Clinical data of ten patients with clinical stage I pediatric testicular yolk sac tumors treated from July 2001 to June 2007 were analyzed., Results: Testicular masses with low or uneven echoes were detected by B ultrasound in 11 testes of ten patients. The serum level of alpha fetoprotein (AFP) was increased in nine patients. Radical inguinal orchiectomy (RIO) was performed for all patients whereas chemotherapy was not administered preoperatively. Pathology examination was used to confirm the diagnosis of yolk sac tumor. One patient with vascular invasion and another one with bilateral testicular yolk sac tumor received cisplatin-based adjuvant chemotherapy. Retroperitoneal lymph node dissection (RPLND) was not performed in these patients. No recurrence was found in nine patients during follow-up with a mean of 3 years. The patient with bilateral testicular tumor had retroperitoneal and lung metastases at 23 months after adjuvant chemotherapy, and achieved complete remission again after salvage chemotherapy., Conclusions: With the combination of B ultrasound and serum AFP level, we can assess and diagnose stage I pediatric testicular yolk sac tumor. RIO could be used to treat it with good outcomes, while RPLND is not necessary. Chemotherapy is recommended to treat patients with high-risk of relapse.

This is a case report of an endodermal sinus tumour arising in the stomach of a 1 1/2 years male child. The tumour occupied full thickness of fundus and part of the body of the stomach. H&E sections of the tumour tissue showed endodermal sinus tumour with predominantly reticular and endodermal sinus patterns. Elevated level of alpha-fetoprotien was detected in the serum of the patient and within the tumour tissue by immunohistochemical technique.

Background: There is a therapeutic dilemma for the pregnant patient with malignancy requiring chemotherapy., Case: We had a case of a 30-year-old pregnant woman with a yolk sac tumor who underwent right salpingo-oophorectomy at 22 weeks gestation. Chemotherapy during pregnancy was postponed because of concern with the risks of the chemotherapy to the fetus. After the operation, L2 fraction of alpha-fetoprotein (AFP) depending on the affinity for Lens culinaris agglutinin (LCA) as an indicator for a maternal source of AFP had been detectable since 30 weeks gestation and elevated rapidly with advancing gestation. Tumor recurrence was confirmed clinically at 34 weeks gestation. She was induced, delivering a healthy baby, and received seven complete chemotherapy courses (cisplatin, etoposide, and peplomycin). Currently, the mother (39 months after last chemotherapy) and child are doing well., Conclusion: AFP-L2 may be a sensitive indicator for a yolk sac tumor derived AFP, leading to an earlier detection of tumor recurrence during pregnancy.

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.

Yolk sac tumors are common in children. By virtue of being chemosensitive, they are amenable to cure by chemotherapy alone and radical surgery is often not required. Yolk sac tumors occurring in the vagina are rare and thus may not be recognized early or may be inadvertently subjected to radical surgery. The authors report a case that presented to them after radical surgery with elevated Alpha-fetoprotein level is reported. The management of this case and review of the relevant literature are discussed here.

Endodermal sinus tumour usually arises in a gonad; extragonadal endodermal sinus tumours are rare. We report a 3-year-old boy with an endodermal sinus tumour arising in the greater omentum, which may be the second reported case in the English literature. He presented with a solid mass in the upper abdomen and a markedly raised serum alpha-fetoprotein (AFP) level. Following percutaneous needle biopsy and omentectomy, histological examination revealed classic morphological features of an endodermal sinus tumour. This rare diagnosis is possible from the imaging features in association with a raised serum level of AFP.

Background: Functioning stromal cells are sometimes seen in primary and metastatic ovarian neoplasms. However, the cytologic features of functioning stromal cells have been described only rarely., Case: A 19-year-old woman had an alpha-fetoprotein-producing ovarian yolk sac tumor with functioning stroma. Her preoperative serum testosterone level was elevated. Imprint cytology showed that the functioning stromal cells had centrally located nuclei with low nuclear/cytoplasmic ratios. Occasionally these cells had vacuolated cytoplasm, suggesting the presence of lipids. In sharp contrast, the yolk sac tumor cells had more pleomorphic and hyperchromatic nuclei. We were able to distinguish between neoplastic and functioning stromal cells on the basis of these findings. In addition, immunostaining for inhibin on imprint cytologic slides was of great help in identifying functioning stromal cells., Conclusion: Because functioning stromal cells may unexpectedly induce hormonal effects in a variety of ovarian tumors, it is important to identify such cells in cytologic specimens.

Background: It is generally believed that the lower the grade of differentiation of glycoprotein-producing cells, the more often modification by bisecting N-acetylglucosamine (GlcNAc) or fucose (Fuc) at the sugar chain of the glycoprotein or increase in branching of side chains occurs. We examined the characteristics of the alpha-fetoprotein (AFP) sugar chain stored in amniotic and exocoelomic fluid during 5-9 weeks of gestation and analyzed serum-derived AFP of patients with germ cell tumors., Methods: Total AFP concentrations in embryonic fluid at 5-9 weeks of gestation (n = 11) and serum of patients with germ cell tumors (n = 7) were measured using a radioimmunoassay (RIA) method. The percentages of AFPs reactive with Lens culinaris agglutinin (LCA), concanavalin A (Con A), erythroagglutinating phytohemagglutinin-E4 (E-PHA) and Ricinus communis agglutinin-120 (RCA 120) were obtained by lectin-affinity electrophoresis coupled with antibody-affinity blotting., Results: It was revealed that at 5-9 weeks of gestation, AFP variants that had been modified by the Fuc residue, which bound to the GlcNAc residue at the reducing end of the sugar chain, and bisecting GlcNAc residues gradually decreased as pregnancy advanced; however, the presence of N-acetylneuraminic acid (Neu5Ac) at the nonreducing ends changed little., Conclusions: It appears very likely that the changes in the relative amounts of AFP variants in the embryonic fluid during early pregnancy were due to differentiation of the yolk sac. The grade of differentiation of yolk sac tumors was very similar to that of the normal yolk sac at around 6 weeks of gestation.

Atypical mitochondrial creatine kinase (creatine N-phosphotransferase, CK, EC 2.7.3.2) was detected in the serum of a patient with carcinoma of germ cell origin, probably hepatoid yolk sac tumor. The pI of the oligomeric atypical mitochondrial CK (Mi-CK) was found at the acidic side compared to that of the typical ubiquitous Mi-CK (uMi-CK), while the molecular size of the atypical Mi-CK was similar to that of the typical uMi-CK. The pIs of the oligomeric and the dimeric atypical Mi-CKs became the same as those of the typical uMi-CK upon treatment with 2-mercaptoethanol. Therefore, the atypical Mi-CK was suggested to be an oxidized form of uMi-CK, and the oxidation might have occurred in the mitochondria because the oligomeric atypical Mi-CK had atypical pIs. The physicochemical characteristics of the oxidized uMi-CK were similar to those of the typical uMi-CK.

The co-existence of an endometrioid adenocarcinoma with an ovarian yolk sac tumor is very rare. Only eight cases have been reported in the English language literature. A 54-year-old postmenopausal woman with a 6-month history of progressive abdominal distension was seen at our hospital. MR imaging revealed a large cyst with a solid intramural node. Serum alpha-fetoprotein and CA125 levels were 13143 ng/ml and 170 U/ml, respectively. At laparotomy, a large tumor approximately 20 cm in diameter was found to occupy the abdominal cavity, adhering to the swollen appendix and part of the omentum. Microscopically, foci of endometrioid adenocarcinoma together with a yolk sac tumor component were observed within a large endometriotic cyst. Since the tumor was clinically staged 1c, the patient was given 500 mg of intraperitoneal carboplatin postoperatively, followed by five courses of combination chemotherapy consisting of cisplatin, etoposide and peplomycin at 4-week intervals. The levels of both serum alpha-fetoprotein and CA 125 decreased gradually to normal ranges and remained normal at the most recent follow-up on 29 December, 2001. In contrast to a very poor prognosis of this tumor in previously reported cases, our patient showed no sign of recurrence during a 21-month follow-up period.

Over the last 3 decades, the management of pediatric yolk sac tumors of the testis has changed significantly. These changes reflect improvement in the treatment of testicular tumors in adults and children, such as the advent of platinum-based chemotherapy regimens. They also reflect increased understanding of the biology and natural history of prepubertal yolk sac tumors of the testis as a unique disease entity.

Gastric yolk sac tumors (YST) are very rare and are mainly reported in elderly people. We present a case of a 36-year-old man with a poorly differentiated gastric cancer showing a mixture of adenocarcinoma and yolk sac tumor that metastasized to Virchow's node. Both biopsies, Virchow's node and gastric tumor, contained areas of adenocarcinoma and yolk sac tumor that stained strongly positive for alpha fetoprotein (AFP) by the immunohistochemistry method. A high level of serum AFP (38,200 ng/mL) was also noted in this case. The response to chemotherapy in this case of mixed gastric yolk sac tumor and adenocarcinoma was not as favorable as would be expected in a pure primary germ cell tumor.

Patients who receive peripheral blood stem cell transplants are at risk of developing cancer recurrence due to the presence of malignant cells in the transplants. We investigated a sensitive method to detect malignant cells in the peripheral blood and peripheral blood stem cells of patients with testicular cancer using nested, reverse transcription-polymerase chain reaction (RT-PCR) to measure alpha-fetoprotein gene expression. Using this technique, a single cancer cell could be detected in 10(6) peripheral blood mononuclear cells. This is the first report of an attempt to detect circulating malignant cells in the peripheral blood of patients with testicular cancer by nested RT-PCR.

We present a case of a 30-year-old pregnant woman in whom an ovarian mass was identified by ultrasonography at 15 weeks' gestation. A markedly elevated maternal serum alphafetoprotein (MSAFP) suggested a diagnosis of endodermal sinus tumour of the ovary. A right salpingo-oophorectomy at 19 weeks' gestation enabled histological confirmation of the diagnosis and suggested a stage 1 tumour. Unfortunately tumour recurrence necessitated further laparotomy and delivery by caesarean section at 32 weeks' gestation. A total abdominal hysterectomy and left salpingo-oophorectomy was undertaken with resection of the splenic flexure and formation of a double-barrelled colostomy after which no gross intraperitoneal tumour remained. Three weeks later a new suprahepatic tumour mass was excised and the colostomy was closed. The patient then received four cycles of combination chemotherapy with cisplatin, etoposide, and bleomycin. Unfortunately she developed a faecal fistula at the site of the colostomy. Germ cell tumours are highly responsive to chemotherapy. Over-zealous surgery particularly involving bowel resection may cause unnecessary morbidity and compromise the outcome.

Endodermal sinus tumor is a malignant germ cell tumor which usually arises in gonads. Extragonadal endodermal sinus tumors in the head and neck are very rare. Here a gingival endodermal sinus tumor is reported. The lesion demonstrated typical microscopic features of the endodermal sinus tumors of gonads. The tumor cells showed alpha-fetoprotein immunoreactivity in immunohistochemical evaluation. The serum alpha-fetoprotein level was high. This is the first gingival case in the related literature.

Primary yolk sac tumour of the liver is exceedingly rare. A 28 year old woman presented with a cystic liver mass and a markedly raised serum alpha-fetoprotein concentration. She underwent a partial hepatectomy for a suspected hepatocellular carcinoma but histological examination of the tumour revealed the classical morphological and immunohistochemical features of a yolk sac tumour. There was no evidence of an extrahepatic primary source. Review of this case, together with the six previously reported adult cases of primary yolk sac tumours of the liver, revealed several features of the tumour that may aid differentiation from hepatocellular carcinoma, with potential therapeutic implications.

Background: Yolk sac tumors (YST) exhibit several different histological subtypes and the mechanisms of cellular differentiation and prognosis of each subtype remain unknown., Results: We report two infants with sacrococcygeal YST; one represented a typical histological subtype and the other showed a hepatoid subtype with uniform histology. The isoform of alpha-fetoprotein (AFP) in the patient with the hepatoid pattern was examined by lectin-affinity immunoelectrophoresis and represented as a YST, but not hepatocellular, subtype. The patient with typical YST responded well to VAB-6 combination chemotherapy. However, this regimen was only partially effective to the patient with the pure hepatoid histological subtype, and an etoposide with ifosfamide and cisplatin (VIP) regimen as a salvage chemotherapy combined with complete tumor resection was useful to achieve complete remission (CR). Both of the patients have been in CR for more than four years.

Several clinical trials have demonstrated that cisplatin-based chemotherapy for primary intracranial germ-cell tumors is effective as a neoadjuvant chemotherapy. In this report, we describe a 6-year-old boy, Down syndrome and Hirschsprung's disease with intracranial pure yolk sac tumor treated by combined chemotherapy with cisplatin, vinblastine, bleomycin and cyclophosphamide (modified VAB-6 regimen). He had been admitted to our hospital because of intractable vomiting, and left facial nerve palsy since 1 month before. An MRI revealed an enlarged mass, 4cm in diameter, in the left cerebello-pontine angle with uniformal enhancement by Gd-DTPA, and bilateral ventricular dilatation. He was found to have increased serum alpha-fetoprotein level (AFP 11, 786ng/ml), but not human chorionic gonadotropin beta-subunit. After a partial resection of the tumor, diagnosed as pure yolk sac tumor, and ventriculo-peritoneal shunt, three courses of combined chemotherapy with cisplatin, bleomycin, vinblastine and cyclophosphamide (modified VAB-6 therapy) were carried out. The serum AFP level returned to normal, and the tumor mass entirely disappeared (a complete response) on MRI after the second course of chemotherapy. However, cisplatin-induced vomiting and mild neutropenia and renal tubular injury developed after the third course of chemotherapy. Irrespective of administration of recombinant human G-CSF and broad spectrum antibiotics, he suffered from pneumonia and died of septic shock and multiple organ failure. Autopsy showed microscopic residual tumors. The combination chemotherapy with cisplatin, bleomycin, vinblastine and cyclophosphamide is effective for initial treatment of childhood intracranial yolk sac tumor. It is necessary, however, to reevaluate the cisplatin dosage and treatment schedule in order to reduce such side effects as bone marrow suppression and renal damage.

Our study aims to make differential diagnosis by immunoelectrophoresis for some common conditions with elevated levels of serum alpha-fetoprotein (AFP). One hundred and nine cases with elevated AFP levels were included in this study: yolk sac tumor (n = 8), hepatocellular carcinoma (n = 26), gastric cancer (n = 12), chronic hepatitis (n = 27) and normal pregnancy (n = 36). Lectin agarose gel electrophoresis, antibody-affinity blotting, and immunoreaction were used to identify the specific patterns of AFP in the respective conditions. The results showed that there were three possible bands: L1, L2 and L3. Yolk sac tumor produced a prominent L2 band and a light L3 band. Hepatocellular carcinoma produced a prominent L1 band and a light L3 band. Gastric cancer produced only an L1 band. Chronic hepatitis had a light L1 band and a pronounced L3 band. In pregnancy, the AFP pattern is similar to that of hepatocellular carcinoma. Immunoelectrophoresis is a useful method facilitating the differentiation of AFP origins.