Yolk sac tumor of the endometrium in a post-menopausal woman: Case report and review of the literature.
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ABSTRACT:
SUBMITTER: Sinha R
PROVIDER: S-EPMC8050376 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Yolk sac tumors (YSTs) of the endometrium and the broad ligament are very rare, with only 29 cases and one case of each other reported before in the English literature. Due to lack of standard guidelines, the treatment strategies of these diseases are controversial. Here, we share two cases of YSTs originating from the endometrium and the broad ligament respectively and review related literature. A 35-year-old woman was diagnosed with endometrial YST in our center and underwent surgery followed by chemotherapy with BEP (bleomycin, cisplatin and etoposide) regimen for six courses. After follow-up for 21 months, there is still no evidence of relapse. Another 36-year-old woman was admitted to our department with YST of the broad ligament. She was treated with surgery followed by chemotherapy with BEP regimen and was lost to follow-up after completing therapy. The case of endometrial YST we shared was similar to cases reported before, while the case with YST of the broad ligament we shared was the second case reported worldwide. Both of these two cases were treated with surgery combined with chemotherapy with BEP regimen.
| S-EPMC8240588 | 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: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:Implantation of the human embryo begins a critical developmental stage that comprises profound events including axis formation, gastrulation and the emergence of haematopoietic system1,2. Our mechanistic knowledge of this window of human life remains limited due to restricted access to in vivo samples for both technical and ethical reasons3-5. Stem cell models of human embryo have emerged to help unlock the mysteries of this stage6-16. Here we present a genetically inducible stem cell-derived embryoid model of early post-implantation human embryogenesis that captures the reciprocal codevelopment of embryonic tissue and the extra-embryonic endoderm and mesoderm niche with early haematopoiesis. This model is produced from induced pluripotent stem cells and shows unanticipated self-organizing cellular programmes similar to those that occur in embryogenesis, including the formation of amniotic cavity and bilaminar disc morphologies as well as the generation of an anterior hypoblast pole and posterior domain. The extra-embryonic layer in these embryoids lacks trophoblast and shows advanced multilineage yolk sac tissue-like morphogenesis that harbours a process similar to distinct waves of haematopoiesis, including the emergence of erythroid-, megakaryocyte-, myeloid- and lymphoid-like cells. This model presents an easy-to-use, high-throughput, reproducible and scalable platform to probe multifaceted aspects of human development and blood formation at the early post-implantation stage. It will provide a tractable human-based model for drug testing and disease modelling.
| S-EPMC10849971 | biostudies-literature
Project description:BackgroundUreteral stents are commonly used in the field of urology to relieve ureteral obstruction. However, complications relating to ureteral stent use, such as encrustation continue to occur, especially with prolonged indwell time.Case presentationHere we present a 37-year-old postpartum woman with a foreign body in her bladder after removing a ureteral stent 1 month before. She insisted that the foreign body was the fragment of stent and asked for medical malpractice indemnity payments while the surgeon of her insisted that the stent was intact during the procedure. Finally, the foreign body was confirmed as an encrustation by cystoscopy and the patient received 10,000 yuan ($ 1500) as indemnity payments after encrustation removal.ConclusionIn the absence of guidelines, stent indwelling time vary with centers' habits, stent materials and patient's education. Early detection of stent encrustation and timely removal of the encrusted stent are still the best way to avoid stent retention. Violent stent removal is of danger and not recommended in any case.
| S-EPMC8609729 | 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:RNASeq reveals conservation of function among the yolk sacs of human, mouse and chicken
| PRJEB18767 | ENA
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:Ovarian yolk sac tumors (YSTs) are rare neoplasms. No radiological study has been done to compare the imaging findings between this type of tumor and other ovarian tumors. Here we analyzed the CT findings of 11 pathologically proven ovarian YSTs and compared their imaging findings with 18 other types of ovarian tumors in the same age range. Patient age, tumor size, tumor shape, ascites and metastasis of two groups did not differ significantly (P > 0.05). A mixed solid-cystic nature, intratumoral hemorrhage, marked enhancement and dilated intratumoral vessel of two groups differed significantly (P < 0.05). The area under the ROC curve of four significant CT features was 0.679, 0.707, 0.705, and 1.000, respectively. Multivariate logistic regression analysis identified two independent signs of YST: intratumoral hemorrhage and marked enhancement. Our results show that certain suggestive CT signs that may be valuable for improving the accuracy of imaging diagnosis of YST and may be helpful in distinguishing YST from other ovarian tumors.
| S-EPMC4466583 | biostudies-other
Project description:Implantation of the human embryo commences a critical developmental stage that comprises profound events including axis formation, gastrulation, and the emergence of yolk sac hematopoietic system. Our mechanistic knowledge of this window of human life remains limited due to restricted access to in vivo samples for both technical and ethical reasons. Stem cell models of human embryo have emerged to help unlock the mysteries of this stage. Here, we present a model of early post-implantation human embryogenesis (embryoid) with an extra-embryonic endoderm and mesoderm niche to support early hematopoiesis. This human embryo model is genetically inducible, and its unanticipated self-organization results in the development of the amniotic cavity, formation of bilaminar disc embryonic morphology, an anterior hypoblast pole and posterior domain. The extra-embryonic layer of iDiscoid presents multilineage yolk sac tissue morphogenesis with extra-embryonic mesoderm and lacks trophoblast. Its development captures distinct waves of yolk sac hematopoiesis including the emergence of erythroid, myeloid and lymphoid cells . iDiscoid offers an easy-to-use, high-throughput, reproducible, and scalable platform to probe multifaceted aspects of human development and blood formation at early post-implantation stage. It will provide a tractable human-based model for drug testing, disease modeling, and a unique cell source for regenerative medicine.
2023-11-10 | GSE247111 | GEO