CT imaging of ovarian yolk sac tumor with emphasis on differential diagnosis.
Ontology highlight
ABSTRACT:
SUBMITTER: Li YK
PROVIDER: S-EPMC4466583 | biostudies-other | 2015
REPOSITORIES: biostudies-other
Similar Datasets
Project description:BACKGROUND:Yolk sac tumor (YST) is a germ cell neoplasm that arises predominantly in the gonads, but can also derive from somatic neoplasms in extragonadal locations. These latter cases have been documented in several organs, although reports from the urinary tract are limited. To our knowledge, this is the first report of a bladder urothelial carcinoma with a predominant component of YST differentiation. CASE PRESENTATION:We present a unique case of a 76-year-old man with a recurrent urinary bladder tumor, initially interpreted as a high grade urothelial carcinoma with glandular differentiation. In the recurrent tumor, diverse histological patterns were identified, including glandular, hepatoid and sarcomatoid. This tumor showed positivity for AFP, GLP3 and SALL4, and negativity for CK7 and EMA. Fluorescent in situ hybridization study showed a polysomic pattern of chromosome 12. All these findings led to the final diagnosis of a YST derived from urothelial carcinoma. CONCLUSIONS:YST differentiation should be considered in the differential diagnosis of a high grade urothelial carcinoma, particularly when glandular and other unusual patterns are observed.
| S-EPMC7271425 | biostudies-literature
Project description:Though outcomes for patients with recurrent/refractory malignant germ cell tumors (mGCTs) are poor, therapies targeting mTOR and EGFR inhibition have shown promise in vitro. We hypothesized that the combination of sirolimus and erlotinib will show activity in patients with recurrent/refractory mGCTs. Patients were enrolled in a prospective phase II clinical trial; central review of existing pathology specimens was performed. Of the five patients evaluated, two had their diagnoses revised to pancreatic acinar cell carcinoma and alpha-fetoprotein (AFP)-secreting gastric adenocarcinoma, respectively. Although mGCTs are common AFP-secreting neoplasms, recurrence or refractoriness to standard regimens should prompt histologic reevaluation for other diagnoses.
| S-EPMC9359435 | biostudies-literature
Project description:RNASeq reveals conservation of function among the yolk sacs of human, mouse and chicken
| PRJEB18767 | ENA
Project description:Non-gestational ovarian choriocarcinoma (NGOC) is a rare phenomenon seldom reported in the literature. Patients often present with abdominopelvic pain, and sometimes a palpable adnexal mass. Surgical excision is paramount in treating this malignancy; however, fertility-preserving care is a debated topic among gynecologic oncologists. Most patients reported in the literature are nulliparous women of child-bearing age. It is important to consider fertility preservation whilst balancing oncologic outcomes. We present a case of an 18-year-old nulliparous female with stage IIB NGOC that had disease progression in the lungs and pelvis shortly after undergoing fertility-preserving surgery. She required emergent completion surgery and received etoposide (E), methotrexate (M), actinomycin-D (A), cyclophosphamide (C) and vincristine (O) (EMA-CO) with complete response. She remains disease-free after 21-months.
| S-EPMC10703604 | biostudies-literature
Project description: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.
| S-EPMC1868235 | biostudies-literature
Project description:Vessel development in the yolk sac is important for the embryo development and the malfunction of which can lead to cardiac dysfunction, embryonic malformation and miscarriage. Although substantial emphasis has been placed on the yolk sac vascular remodeling, no detailed three-dimensional (3D) imaging and quantitative analysis of this process has been described. Herein, we explored the development of the vascular system in the visceral yolk sac (VYS) on E11.5, E12.5 and E13.5 mouse embryos using a home-built large field-of-view (FOV) optical-resolution photoacoustic microscopy (OR-PAM). The results showed that OR-PAM can be used as a label-free imaging tool for studying the 2D/3D morphology changes of the vascular system during organogenesis. In addition, after a quantitative analysis the results showed that the microvascular density in the VYS gradually reduced along with the embryo growth. Vascular density in the VYS of E11.5 mouse embryos was almost 6-fold than that of E13.5. Hovever, the averaged vessel diameter of the entire VYS membrane increased gradually with the development of embryos. This study suggests that OR-PAM is a potential tool for acquiring the hemodynamic parameters of mammalian embryos, which could be further used for studying diseases related with the vascular remodeling such as vascular malformations and heart defects.
| S-EPMC6957815 | biostudies-literature
Project description:BackgroundLi-Fraumeni syndrome (LFS) is a rare autosomal dominant disease with high penetrance caused by a germline variant of TP53 gene. We report the first case of endometrial cancer after yolk sac tumor with LFS.Case presentationThe presented female patient underwent right adnexectomy at age 23 because of a yolk sac tumor of the ovary. At the age of 27, the patient was diagnosed with endometrial adenocarcinoma, received cytoreductive surgery and chemotherapy. Given that her personal cancer history along with a strong family history of cancer, her father passing away from lung cancer at age 48 and her grandmother dying of ovarian cancer at age 50, the patient was referred for genetic counseling and testing. Genetic screening revealed a heterozygous pathogenic TP53 c.844C > T, p.( R282 W) with NM_000546.5 variant, a class 5 (C5) variant. This is the first reported case of a yolk sac tumor accompanied by subsequent endometrial cancer that is associated with LFS.ConclusionsWe reported a first case of an endometrial cancer after yolk sac tumor patient with a tumor family history of harboring the germline TP53 pathogenic variation which expanded types of tumor that can be presented in patients with LFS. This case highlights the importance of genetic testing for patients with malignant tumors, as well as patients with a family history of malignant tumors. And our case highlights the necessity of screening for gynecologic tumor in LFS patients.
| S-EPMC10286347 | biostudies-literature
Project description:BackgroundThe yolk sac (YS) is an extra-embryonic tissue that surrounds the yolk and absorbs, digests and transports nutrients during incubation of the avian embryo as well as during early term mammalian embryonic development. Understanding YS functions and development may enhance the efficient transfer of nutrients and optimize embryo development. To identify temporal large-scale patterns of gene expression and gain insights into processes and mechanisms in the YS, we performed a transcriptome study of the YS of chick embryos on embryonic days (E) E13, E15, E17, E19, and E21 (hatch).Results3547 genes exhibited a significantly changed expression across days. Clustering and functional annotation of these genes as well as histological sectioning of the YS revealed that we monitored two cell types: the epithelial cells and the erythropoietic cells of the YS. We observed a significant up-regulation of epithelial genes involved in lipid transport and metabolism between E13 and E19. YS epithelial cells expressed a vast array of lipoprotein receptors and fatty acid transporters. Several lysosomal genes (CTSA, PSAP, NPC2) and apolipoproteins genes (apoA1, A2, B, C3) were among the highest expressed, reflecting the intensive digestion and re-synthesis of lipoproteins in YS epithelial cells. Genes associated with cytoskeletal structure were down-regulated between E17 and E21 supporting histological evidence of a degradation of YS epithelial cells towards hatch. Expression patterns of hemoglobin synthesis genes indicated a high erythropoietic capacity of the YS between E13 and E15, which decreased towards hatch. YS histological sections confirmed these results. We also observed that YS epithelial cells expressed high levels of genes coding for plasma carrier proteins (ALB, AFP, LTF, TTR), normally produced by the liver.ConclusionsHere we expand current knowledge on developmental, nutritional and molecular processes in the YS. We demonstrate that in the final week of chick embryonic development, the YS plays different roles to support or replace the functions of several organs that have not yet reached their full functional capacity. The YS has a similar functional role as the intestine in digestion and transport of nutrients, the liver in producing plasma carrier proteins and coagulation factors, and the bone marrow in synthesis of blood cells.
| S-EPMC4246430 | biostudies-literature
Project description:A woman in her 60s was evaluated for anterior chest pain. Computed tomography (CT) revealed a 50 mm mass with irregular contrast enhancement in the anterior mediastinum. α-fetoprotein (AFP) level was elevated to 1188 ng/mL. A germ cell tumor was diagnosed, mostly comprising of a yolk sac tumor (YST). Two courses of chemotherapy with cisplatin (CDDP) and etoposide (VP16) were administered and surgical tumor resection was then performed. The final diagnosis was YST. CDDP and VP16 were continued postoperatively; however, because the AFP level increased about six months after surgery, the chemotherapy regimen was altered to bleomycin and CPT-11. As the AFP again increased and a CT scan revealed tumor re-enlargement, recurrent YST was diagnosed and radiotherapy was administered. The patient received a total of 60 Gy (2 Gy per fraction). The tumor started to shrink during radiotherapy and AFP levels decreased. By one month post-radiotherapy, AFP levels had normalized and the tumor had disappeared. As of six years after radiotherapy, the patient remains alive without recurrence. Mediastinal YSTs are rare, and treatment usually includes surgery and preoperative and postoperative chemotherapy with cisplatin-based regimens. Successful treatment with radiotherapy has occasionally been reported. Our patient showed recurrence of a YST after surgery and chemotherapy, but achieved long-term survival after radiotherapy. Few patients with YST have undergone radiotherapy, but this approach was successful in our patient. In cases of postoperative recurrent YST resistant to chemotherapy, radiotherapy, together with salvage surgery, may offer a valuable option.
| S-EPMC4846626 | biostudies-other
Project description:The yolk sac tissue (YST) is a multifunctional metabolic organ supporting chicken embryonic development. This study examined whether incubation temperatures (ITs) affect YST functions. For this purpose, 300 eggs were assigned to 3 groups and incubated at control IT of 37.8°C, at 1.5°C below, 36.3°C (cold IT), and at 1.5°C above, 39.3°C (hot IT). For each group, 6 embryos' whole body mass and residual yolk (RSY) weights were recorded during incubation, and YST was sampled for both histology and gene expression analysis. YST functionality during incubation was examined by regression analysis, comparing changes in expression patterns of genes involved in lipid uptake and metabolism (LRP2, ApoA1), oligopeptides uptake (PepT1), gluconeogenesis (FBP1), glycogenesis (GYS2), and thyroid hormones regulation (TTR, DIO1, DIO2). Results show that hot and cold ITs affected YST gene expression and yolk utilization. PepT1 expression decreased towards hatch, in both hot and cold ITs, while in the Control IT, it reached a plateau. ApoA1 and DIO2 expression showed a moderate linear fit compared to polynomial fit in the control. GYS2 expression had no change along incubation, while in the control IT, it showed a polynomial fit. Expression of LRP2, FBP1, and DIO1 genes was affected by either cold or hot IT's. TTR expression patterns were similar in all IT groups. The variations in gene expression patterns observed in the 3 ITs can explain the changes in yolk utilization, an important parameter for hatchling quality. While the control IT showed optimal utilization, with an RSY value of 11.12% at the day of hatch, the cold and hot IT groups exhibited lower utilization with an RSY value of 18.18 and 29.99%, respectively. These findings are the first to show that ITs change the expression of key YST genes, leading to variations in yolk utilization by the embryo.
| S-EPMC7647798 | biostudies-literature