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Urology Mar 2023Vaginal yolk sac tumors are rare pediatric malignant tumors and the most common form of vaginal germ-cell tumors in children. They are almost exclusively found in...
Vaginal yolk sac tumors are rare pediatric malignant tumors and the most common form of vaginal germ-cell tumors in children. They are almost exclusively found in females under 3 years of age. Treatment involves local excision either with or without chemotherapy. Herein, we describe a case of a 3-year-old girl with vaginal Yolk sac tumor, who underwent buccal mucosa vaginoplasty through an anterior sagittal transrectal approach , as an effective oncological procedure, with preservation of reproductive function.
Topics: Child; Female; Humans; Child, Preschool; Endodermal Sinus Tumor; Mouth Mucosa; Vagina; Vaginal Neoplasms; Neoplasms, Germ Cell and Embryonal
PubMed: 36572221
DOI: 10.1016/j.urology.2022.12.012 -
International Journal of Surgical... Aug 2023We report a case of a 65-year-old man with alpha-fetoprotein (AFP)-producing esophageal adenocarcinoma that microscopically consisted of a polymorphous blend of... (Review)
Review
We report a case of a 65-year-old man with alpha-fetoprotein (AFP)-producing esophageal adenocarcinoma that microscopically consisted of a polymorphous blend of enteroblastic, yolk sac-like, and hepatoid carcinoma components of variable proportions. No histological evidence of Barrett's esophagus was identified. Two weeks post-endoscopic mucosal mass resection, the serum AFP level was 1434.6 ng/mL. The patient underwent radiation and chemotherapy but developed metastatic lung lesions. At 18 months post-resection, the patient is alive. AFP-producing esophageal adenocarcinoma is a rare entity. We reviewed reported cases for clinicopathological features, treatment strategies, and prognosis.
Topics: Male; Humans; Aged; alpha-Fetoproteins; Endodermal Sinus Tumor; Adenocarcinoma; Esophageal Neoplasms
PubMed: 36514283
DOI: 10.1177/10668969221142041 -
Pathology, Research and Practice Jan 2023The recently described SWI/SNF complex-deficient sinonasal carcinoma (SMARCB1 & SMARCA4) may exhibit a yolk sac-like morphology. Tumors with similar features (yolk...
The recently described SWI/SNF complex-deficient sinonasal carcinoma (SMARCB1 & SMARCA4) may exhibit a yolk sac-like morphology. Tumors with similar features (yolk sac-like histology combined with the immunohistochemical loss of SMARCB1/INI1 and/or SMARCA4/BRG1) have also been described in other sites, such as the female genital tract. In this study, we immunohistochemically assessed SMARCB1/INI1 and SMARCA4/BRG1 expression to evaluate if these proteins could be involved in the pathogenesis of testicular yolk sac tumors of postpubertal type (YSTpt). Specifically, we analyzed a retrospective case series comprising pure YSTpt and mixed germ cell tumors of the testis (GCTT) with YSTpt components. In the present study, no testicular YSTpt showed loss of SMARCB1/INI1 (0/24, 0%) or SMARCA4/BRG1 (0/24, 0%). However, testicular choriocarcinoma (CHC) and isolated syncytiotrophoblast cells (iSTCs) demonstrated abnormal staining patterns for SMARCA4/BRG1 [CHC: 4/4 (100%); iSTCs: 12/12 (100%), respectively], including focal or diffuse loss of expression in a subset of cases. The results of our study suggest that functional loss of SMARCA4/BRG1 represents a recurrent event that may be relevant for the pathogenesis of a subset of testicular CHC.
Topics: Male; Female; Humans; Endodermal Sinus Tumor; Retrospective Studies; Biomarkers, Tumor; SMARCB1 Protein; Carcinoma; Choriocarcinoma; DNA Helicases; Nuclear Proteins; Transcription Factors
PubMed: 36502737
DOI: 10.1016/j.prp.2022.154269 -
Frontiers in Public Health 2022Testicular yolk sac tumor (TYST) is a rare malignant germ cell tumor that mainly occurs in young men. Due to the low incidence of yolk sac tumors, there is a lack of... (Randomized Controlled Trial)
Randomized Controlled Trial
PURPOSE
Testicular yolk sac tumor (TYST) is a rare malignant germ cell tumor that mainly occurs in young men. Due to the low incidence of yolk sac tumors, there is a lack of prospective cohort studies with large samples. We aimed to develop a nomogram to predict cancer-specific survival (CSS) in patients with TYST.
MATERIALS AND METHODS
Patient information was downloaded from the Surveillance, Epidemiology and End Results (SEER) database. We enrolled all patients with TYST from 2000 to 2018, and all patients were randomly divided into a training set and a validation set. Univariate and multivariate Cox proportional hazards regression models were used to identify independent risk factors for patients. We constructed a nomogram based on the multivariate Cox regression model to predict 1-, 3-, and 5-year CSS in patients with TYST. We used a series of validation methods to test the accuracy and reliability of the model, including the concordance index (C-index), calibration curve and the area under the receiver operating characteristic curve (AUC).
RESULTS
619 patients with TYST were enrolled in the study. Univariate and multivariate Cox regression analysis showed that age, T stage, M stage and chemotherapy were independent risk factors for CSS. A nomogram was constructed to predict the patient's CSS. The C-index of the training set and the validation set were 0.901 (95%CI: 0.859-0.847) and 0.855 (95%CI: 0.865-0.845), respectively, indicating that the model had excellent discrimination. The AUC showed the same results. The calibration curve also indicated that the model had good accuracy.
CONCLUSIONS
In this study, we constructed the nomogram for the first time to predict the CSS of patients with TYST, which has good accuracy and reliability and can help doctors and patients make clinical decisions.
Topics: Male; Humans; Nomograms; Endodermal Sinus Tumor; SEER Program; Neoplasm Staging; Reproducibility of Results
PubMed: 36324443
DOI: 10.3389/fpubh.2022.1038502 -
International Journal of Surgical... Aug 2023The most common subtype of ovarian carcinoma associated with somatically derived yolk sac tumor (YST) is endometrioid carcinoma. Only two cases of ovarian mucinous... (Review)
Review
The most common subtype of ovarian carcinoma associated with somatically derived yolk sac tumor (YST) is endometrioid carcinoma. Only two cases of ovarian mucinous carcinomas associated with YST have been reported; herein, we present three additional patients, along with a review of previous literature and our pathology archives to analyze the tumor prognosis. The patients' ages ranged from 38 to 53 years. Two patients had FIGO stage 1 tumors, and one patient had a stage 3 tumor. Two patients died of the disease within a year, and one patient survived with distant metastasis (32 months after surgery). In all three tumors, the YST-like component comprised less than 5% of the total tumor area. Together with the two previously reported mucinous carcinomas with a YST-like component, the prognosis of the five mucinous carcinomas with a YST-like component were compared with that of 19 conventional mucinous carcinomas resected at our hospital. The survival curves were estimated using the Kaplan-Meier method. As a result, the overall survival rate of patients with mucinous carcinomas with a YST-like component was significantly lower than that of patients with conventional mucinous carcinomas ( = .0014). Our study indicates that the presence of a YST-like component in mucinous carcinomas would be a strong prognostic indicator.
Topics: Female; Humans; Adult; Middle Aged; Prognosis; Endodermal Sinus Tumor; Immunohistochemistry; Ovarian Neoplasms; Carcinoma, Endometrioid; Carcinoma, Ovarian Epithelial; Adenocarcinoma, Mucinous
PubMed: 36314449
DOI: 10.1177/10668969221133346 -
International Journal of Gynecological... Jul 2023Ovarian germ cell tumors (GCT) account for 2% to 3% of malignant ovarian neoplasms in Western countries and typically occur within the first 2 decades. When presenting... (Review)
Review
Ovarian germ cell tumors (GCT) account for 2% to 3% of malignant ovarian neoplasms in Western countries and typically occur within the first 2 decades. When presenting later in life, GCTs may be associated with epithelial malignancies. In these circumstances, it has been theorized that these tumors may originate from a somatic, rather than germ cell origin, especially in the postmenopausal setting; however, the true derivation is not fully understood. Our database was searched for primary ovarian GCTs associated with a malignant epithelial component in patients above 35 yr of age, from 2006 to 2021. Two cases were identified and in each case, slides were reviewed and targeted next-generation sequencing was utilized to identify and compare gene mutation variants in morphologically distinct components. Patient A is a 58-yr-old, with choriocarcinoma and minor component of mucinous adenocarcinoma, and patient B is a 43-yr-old, with yolk sac tumor and minor component of endometrioid adenocarcinoma. The morphologically distinct areas in each case showed disparate staining patterns; however, next-generation sequencing demonstrated identical mutation variants within both the germ cell and epithelial components. Variants in CDKN2A , PIK3CA , PIK3R1 , and TP53 were present in patient A's tumor, while patient B's tumor showed CTNNB1 , PIK3R1 , and 2 PTEN variants. These mutational patterns are similar to those seen in pure epithelial counterparts, suggesting somatic derivation of the germ cell component. These rare tumors portend a poor prognosis and understanding their origin has clinical and therapeutic implications.
Topics: Humans; Female; Adult; Middle Aged; Adenocarcinoma, Mucinous; Carcinoma, Endometrioid; Choriocarcinoma; Ovarian Neoplasms; Neoplasms, Germ Cell and Embryonal; Endodermal Sinus Tumor
PubMed: 36305517
DOI: 10.1097/PGP.0000000000000913 -
BMC Pediatrics Oct 2022The objective of the study was to analyze the clinical features, treatment, and outcomes of primary vaginal endodermal sinus tumor (EST) in infants and children treated...
BACKGROUND
The objective of the study was to analyze the clinical features, treatment, and outcomes of primary vaginal endodermal sinus tumor (EST) in infants and children treated in a tertiary center.
METHODS
Clinical data of patients with pathologically confirmed primary vaginal EST in our hospital from January 1997 to December 2017 were retrospectively reviewed and analyzed.
RESULTS
A total of 21 patients were included in this study. The median age at diagnosis was 11 months (range, 4-44 months). The most common manifestations were abnormal vaginal bleeding, and a polypoid mass protruding from the vagina. Chemotherapy based on PEB (cisplatin, etoposide, bleomycin) regimen was given, and serum alpha-fetoprotein (AFP) levels dropped to normal levels after 2 to 4 cycles of chemotherapy (median, 2 cycles). After 3 to 13 cycles of chemotherapy, with a median of 5 cycles, 20 patients achieved complete remission (95.2%). The median follow-up time was 80 months (range, 4-281months). At the time of the last follow-up, 19 cases were alive without disease, and the survival rate was 90.5%.
CONCLUSION
Vaginal EST is a very rare malignant germ cell tumor and is sensitive to chemotherapy. Conservative surgery combined with PEB chemotherapy is an effective way of treatment. Serum AFP and imaging examinations can monitor the treatment response and recurrence.
Topics: Antineoplastic Combined Chemotherapy Protocols; Bleomycin; Child, Preschool; Cisplatin; Endodermal Sinus Tumor; Etoposide; Female; Humans; Infant; Retrospective Studies; Vaginal Neoplasms; alpha-Fetoproteins
PubMed: 36207682
DOI: 10.1186/s12887-022-03634-2 -
Cardiovascular Pathology : the Official... 2023In the pediatric population, intracardiac tumors are rare, usually benign, and mostly diagnosed as rhabdomyoma. Yolk sac tumors (YSTs) are a rare malignant type of germ...
PURPOSE
In the pediatric population, intracardiac tumors are rare, usually benign, and mostly diagnosed as rhabdomyoma. Yolk sac tumors (YSTs) are a rare malignant type of germ celltumor that typically occurs in gonads. It can also be seen in midline locations but the intracardiac location is extremely rare.
METHODS
The case herein comprises an asymptomatic 2.5-year-old girl with a murmur detected under general examination.
RESULTS
Echocardiography showed a 3 × 3-cm mass in the right ventricle. Cardiac magnetic resonance imaging revealed a smooth contoured mass in the right ventricle lumen, which was compatible with rhabdomyoma. After surgical resection, the histopathological results showed a YST. This diagnosis was supported by high values of subsequent serum alpha feto-protein. There was no evidence for any other primary location.
CONCLUSION
When an intracardiac mass is observed, a YST should be considered. The increase in the alpha feto-protein level can help in the differential diagnosis.
Topics: Child; Humans; Child, Preschool; Endodermal Sinus Tumor
PubMed: 36183854
DOI: 10.1016/j.carpath.2022.107480 -
Archives of Pathology & Laboratory... Jun 2023The interpretation of postchemotherapy resections of anterior mediastinal germ cell tumors plays a critical role in determining future patient management and prognosis....
CONTEXT.—
The interpretation of postchemotherapy resections of anterior mediastinal germ cell tumors plays a critical role in determining future patient management and prognosis. Treatment-related changes in the thymus may mimic residual teratoma or microcystic-pattern yolk sac tumor. There is limited extant information concerning therapy-related pseudoneoplastic thymic alterations.
OBJECTIVE.—
To provide diagnostic assistance to distinguish nonneoplastic thymic abnormalities secondary to chemotherapy from residual germ cell tumor.
DESIGN.—
We retrospectively reviewed 91 resections of primary anterior mediastinal germ cell tumors with recognizable thymic gland following cisplatin-based chemotherapy.
RESULTS.—
The cohort included 90 men and 1 woman (median age, 29 years). A spectrum of thymic epithelial alterations occurred, including cystic change (macrocysts [n = 21] or microcysts [n = 20]); hyperplasia with reactive atypia (n = 8); ciliated, mucinous, or columnar cell metaplasia (n = 3); and mature squamous metaplasia (n = 2). These changes were similar to so-called acquired multilocular thymic cysts, were often contiguous with and adjacent to normal thymic epithelium, and lacked the neoplastic-type atypia seen in teratomatous elements in this setting. In 1 case, confluent microcysts closely mimicked the appearance of yolk sac tumor but lacked other distinctive features of that neoplasm and its characteristic immunoreactivity.
CONCLUSIONS.—
Recognition of therapy-induced thymic changes is important to avoid misinterpretation as residual teratoma or yolk sac tumor. Continuity with and proximity to benign thymic epithelium, absence of neoplastic-type atypia, and awareness of this phenomenon are important in avoiding this pitfall.
Topics: Male; Female; Humans; Adult; Endodermal Sinus Tumor; Retrospective Studies; Neoplasms, Germ Cell and Embryonal; Mediastinal Neoplasms; Teratoma
PubMed: 36136298
DOI: 10.5858/arpa.2021-0631-OA -
BMJ Case Reports Sep 2022The role of surgery for metastases to the vertebra from yolk sac tumours has not been established. The main treatment for disseminated disease is chemotherapy. We...
The role of surgery for metastases to the vertebra from yolk sac tumours has not been established. The main treatment for disseminated disease is chemotherapy. We present a man in his 30s with a left orchiectomy for a testicular mixed germ cell tumour with a prominent yolk sac component who, 12 months later, developed an asymptomatic metastasis to the L2 vertebra unresponsive to chemotherapy and radiotherapy. The patient underwent resection of the L2 vertebral body, leaving a small residual tumour anterior to the vertebra attached to the great vessels. Pathology confirmed the diagnosis of a metastatic testicular yolk sac tumour in the vertebra. The postoperative MRI 6 months later demonstrated significant expansion of the tumour at the soft tissues anterior to the expandable titanium cage encasing the great vessels and extending to the paraspinal areas. Additional salvage surgery was not recommended because of the advanced stage of the tumour.
Topics: Endodermal Sinus Tumor; Humans; Male; Neoplasms, Germ Cell and Embryonal; Orchiectomy; Spine; Testicular Neoplasms; Titanium
PubMed: 36135998
DOI: 10.1136/bcr-2022-250461