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Diagnostic Pathology Jan 2022Yolk sac tumor (YST) is a germ cell tumor. It is primarily located in the gonads but can also occur extragonadally (extragonadal yolk sac tumor - EGYST), most commonly... (Review)
Review
BACKGROUND
Yolk sac tumor (YST) is a germ cell tumor. It is primarily located in the gonads but can also occur extragonadally (extragonadal yolk sac tumor - EGYST), most commonly in the pelvis, retroperitoneum or mediastinum. Only a few YSTs of the urachus have been described.
CASE REPORT
We present a rare case report of a 37-year-old male with episodes of macroscopic hematuria. The histological specimen obtained by transurethral resection showed a solid, and in some parts papillary infiltrative, high-grade tumor with numerous areas of marked nuclear atypia and clear invasion between the detrusor bundles. Glandular pattern has been observed in only minority of the tumor. Immunohistochemistry showed significant positivity for GPC3, SALL4 and cytokeratins AE1/AE3, while KRT7 and GATA3 were negative. We concluded that the biopsy findings were consistent with urothelial carcinoma with infrequent YST differentiation. In definitive surgical specimens we found a malignant epithelial, glandular and cystically arranged tumor of germinal appearance arising from urachus. The surrounding urothelium was free of invasive or in situ tumor changes. We reclassified the tumor as a urachal YST.
CONCLUSION
EGYST was suspected because glandular and hepatoid structures were found, but the presence of these structures should be verified by immunohistochemistry.
Topics: Adult; Biomarkers, Tumor; Endodermal Sinus Tumor; Humans; Male; Urinary Bladder Neoplasms
PubMed: 35027045
DOI: 10.1186/s13000-022-01190-y -
Annals of the Royal College of Surgeons... Nov 2016We present a case that we believe to be the largest mixed germ cell testicular tumour reported in the United Kingdom. A 23-year-old male was admitted to our urology...
We present a case that we believe to be the largest mixed germ cell testicular tumour reported in the United Kingdom. A 23-year-old male was admitted to our urology department with a large scrotal swelling. The patient was found to have a giant left testicular tumour and a solitary lung metastasis at presentation. He underwent an emergency radical orchidectomy and subsequently received four cycles of bleomycin, etoposide and cisplatin chemotherapy. Four months after starting treatment, the tumour markers had normalised and a repeat staging computed tomography showed no active disease. The tumour reached that size because of the patient's failure to seek medical attention due to fear and embarrassment.
Topics: Antineoplastic Combined Chemotherapy Protocols; Carcinoma, Embryonal; Combined Modality Therapy; Endodermal Sinus Tumor; Humans; Lung Neoplasms; Male; Orchiectomy; Testicular Neoplasms; Young Adult
PubMed: 27490988
DOI: 10.1308/rcsann.2016.0219 -
Asian Pacific Journal of Cancer... 2015To retrospective assess the potential predictors for relapse and create an effective clinical mode for surveillance after orchidectomy in clinical stage I... (Comparative Study)
Comparative Study
Comparative Effectiveness of Risk-adapted Surveillance vs Retroperitoneal Lymph Node Dissection in Clinical Stage I Nonseminomatous Germ Cell Testicular Cancer: A Retrospective Follow-up Study of 81 Patients.
PURPOSE
To retrospective assess the potential predictors for relapse and create an effective clinical mode for surveillance after orchidectomy in clinical stage I non-seminomatous germ cell testicular tumors (CSI-NSGCTs).
MATERIALS AND METHODS
We analyzed data for CSI-NSGCTs patients with non-lymphatic vascular invasion, %ECa < 50% (percentage of embryonal carcinoma < 50%), and negative or declining tumor markers to their half-life following orchidectomy (defined as low-risk patients); these patients were recruited from four Chinese centers between January 1999 and October 2013. Patients were divided into active surveillance group and retroperitoneal lymph node dissection (RPLND) group according to different therapeutic methods after radical orchidectomy was performed. The disease-free survival rates (DFSR) and overall survival rates (OSR) of the two groups were compared by Kaplan-Meier analysis.
RESULTS
A total of 121 patients with CSI-NSGCT were collected from four centers, and 81 low-risk patients, including 54 with active surveillance and 27 with RPLND, were enrolled at last. The median follow-up duration was 66.2 (range 6-164) months in the RPLND group and 65.9 (range 8-179) months in the surveillance group. OSR was 100% in active surveillance and RPLND groups, and DFSR was 89.8% and 87.0%, respectively. No significant difference was observed between these two groups (X2=0.108, P=0.743). No significant difference was observed between the patients with a low percentage of embryonal carcinoma (<50%) and those without embryonal carcinoma (87.0% and 91.9%, X2=0.154, P=0.645). No treatment-related complications were observed in the active surveillance group whereas minor and major complications were observed in 13.0% and 26.1% of the RPLND group, respectively.
CONCLUSIONS
Active surveillance resulted in similar DFSR and OSR compared with RPLND in our trial. Patients with low-risk CSI-NSGCTs could benefit from risk-adapted surveillance after these patients were subjected to radical orchidectomy.
Topics: Adolescent; Adult; Carcinoma, Embryonal; Chemotherapy, Adjuvant; Child; Child, Preschool; Cohort Studies; Disease-Free Survival; Endodermal Sinus Tumor; Follow-Up Studies; Humans; Infant; Kaplan-Meier Estimate; Lymph Node Excision; Lymph Nodes; Male; Middle Aged; Neoplasm Recurrence, Local; Neoplasm Staging; Neoplasms, Germ Cell and Embryonal; Orchiectomy; Retroperitoneal Space; Retrospective Studies; Risk; Teratoma; Testicular Neoplasms; Watchful Waiting; Young Adult
PubMed: 25921130
DOI: 10.7314/apjcp.2015.16.8.3267 -
Indian Journal of Pathology &... 2023We report a case of pure orbital yolk sac tumor (YST) in an 11-month-old infant, which is a rare entity. The child presented with progressive painless swelling of the...
We report a case of pure orbital yolk sac tumor (YST) in an 11-month-old infant, which is a rare entity. The child presented with progressive painless swelling of the right eye and on examination had proptosis, chemosis, and lid edema. Systemic examination was within normal limits. Magnetic resonance imaging (MRI) orbit revealed a lobulated heterogeneously enhancing right retroocular mass extending up to the orbital apex, displacing the optic nerve and eroding the medial orbital wall. Biopsy of the lesion revealed pure YST histology. Serum alpha-fetoprotein (AFP) was markedly raised at 76900 ng/mL. She was started on infant bleomycin etoposide cisplatin (BEP) chemotherapy protocol. There was a good clinical and radiological response. A high index of malignancy is required in young children presenting with orbital proptosis. A multidisciplinary approach and early intervention are essential to save both vision and life.
Topics: Child; Female; Humans; Infant; Child, Preschool; Endodermal Sinus Tumor; Etoposide; Orbit; Magnetic Resonance Imaging; Exophthalmos
PubMed: 37530363
DOI: 10.4103/IJPM.IJPM_741_21 -
Medicine Dec 2023Primary hepatic yolk sac tumors (YSTs) are rare in adults. Liver resection is an acknowledged treatment modality for primary hepatic YST. Liver transplantation may offer... (Review)
Review
RATIONALE
Primary hepatic yolk sac tumors (YSTs) are rare in adults. Liver resection is an acknowledged treatment modality for primary hepatic YST. Liver transplantation may offer a possible cure for unresectable cases.
PATIENT CONCERNS
We present a case of a 31-year-old woman with an abdominal mass who had abnormally elevated alpha-fetoprotein (AFP) levels (31,132 ng/mL; normal: 0-7 ng/mL). Contrast-enhanced computed tomography (CT) revealed large tumors located in both lobes of the liver, with arterial enhancement and venous washout. Fluorine-18 fluorodeoxyglucose (18F-FDG) positron emission tomography (PET)/CT indicated increased 18F-FDG uptake (maximum standardized uptake value, 24.4) in the liver tumors and left middle intra-abdominal nodule.
DIAGNOSES
The diagnosis was primary hepatic YST with metastasis to the greater omentum.
INTERVENTIONS
The patient underwent orthotopic liver transplantation and intra-abdominal nodule resection after transarterial chemoembolization (TACE) as a bridge. Intraoperatively, an intra-abdominal nodule was confirmed in the greater omentum. Histopathological examination of the liver tumors revealed Schiller-Duval bodies. The tropomyosin receptor kinase (TRK) inhibitor larotrectinib was administered, followed by four cycles of chemotherapy with bleomycin, etoposide, and cisplatin based on the next-generation sequencing results.
OUTCOMES
The AFP level decreased to within the normal range. No evidence of tumor collapse was observed during the 34-month follow-up period.
LESSONS
This case suggests that multimodal therapy dominated by liver transplantation, including preoperative TACE, postoperative adjuvant chemotherapy, and TRK inhibitors, is an effective treatment modality for unresectable primary hepatic YST.
Topics: Adult; Female; Humans; Liver Neoplasms; Carcinoma, Hepatocellular; Fluorodeoxyglucose F18; Liver Transplantation; alpha-Fetoproteins; Endodermal Sinus Tumor; Chemoembolization, Therapeutic
PubMed: 38115376
DOI: 10.1097/MD.0000000000035821 -
The Malaysian Journal of Pathology Aug 2020Yolk sac tumour (YST) or endodermal sinus tumour is rare and typically seen in gonads.
INTRODUCTION
Yolk sac tumour (YST) or endodermal sinus tumour is rare and typically seen in gonads.
CASE REPORT
We described a case of extragonadal vaginal YST in a one year and seven months old girl who presented with vaginal discharge and bleeding, and discuss its differential diagnosis and potential pitfalls in immunohistochemistry. She was found to have a suprapubic mass on examination. The serum alpha fetoprotein was 11919.4 ng/mL. Computed tomography of the pelvis revealed a large 6.4 cm heterogenous pelvic mass. Colposcopic examination of the pelvis showed a fungating vaginal mass that was subsequently confirmed as a yolk sac tumour. Immunohistochemically, the malignant cells were positive toward CKAE1/AE3, AFP and glypican-3, as well as CD117.
DISCUSSION
Solid pattern extragonadal vaginal YST may morphologically resemble dysgerminoma that is also CD117 positive, while the glandular pattern YST may have clear cytoplasm and is positive for cytokeratin; hence, may resemble clear cell carcinoma. Being mindful of these potential diagnostic caveats is necessary to prevent misdiagnosis.
Topics: Biomarkers, Tumor; Diagnosis, Differential; Dysgerminoma; Endodermal Sinus Tumor; Female; Humans; Immunohistochemistry; Infant; Proto-Oncogene Proteins c-kit; Sarcoma, Clear Cell; Vagina; Vaginal Neoplasms
PubMed: 32860387
DOI: No ID Found -
Diagnostic Pathology Aug 2017Mesonephric adenocarcinoma (MA) is a rare tumor believed to arise from mesonephric remnants occurring mostly in the uterine cervix and, to a lesser extent, the corpus.... (Review)
Review
BACKGROUND
Mesonephric adenocarcinoma (MA) is a rare tumor believed to arise from mesonephric remnants occurring mostly in the uterine cervix and, to a lesser extent, the corpus. Since the first case report of MA in the corpus in 1995, only 16 cases have been reported in the English literature. A recent report suggested that MA originates in Müllerian tissue and exhibits the mesonephric differentiation phenotype.
CASE PRESENTATION
An asymptomatic 61-year-old woman was referred to our hospital because of elevated levels of tumor markers. Imaging revealed an intramural lesion of the uterine corpus exhibiting fluorodeoxyglucose uptake. A total hysterectomy and bilateral salpingo-oophorectomy were performed. The tumor was completely confined to the corpus wall and was composed of an intracystic bulky component and an invasive component in the myometrial layer. The tumor exhibited a variety of growth patterns, including a characteristic tubular pattern with dense eosinophilic secretion reminiscent of the thyroid, as well as a variety of morphologies, such as acinar, papillary, and ductal structures. The structures were immunoreactive for CK7, vimentin, CD10, calretinin, PAX8, and GATA3 and almost completely negative for ER/PgR. CA125 and CA19-9 antigen expression was also detected.
CONCLUSION
A case of MA with a unique growth pattern of an intracystic mass within the corpus wall is presented. The histogenesis and differential diagnoses are discussed. The histogenesis of MA is not yet clear. We hypothesize two different pathways involved: 1) direct development from the mesonephric remnants and/or 2) mesonephric transformation of Müllerian adenocarcinoma.
Topics: Adenocarcinoma; Female; Humans; Mesonephroma; Middle Aged; Myometrium; Uterine Neoplasms
PubMed: 28841919
DOI: 10.1186/s13000-017-0655-y -
Journal of Occupational and... Jun 2019To assess prenatal air toxics exposure and risk for childhood germ cell tumors (GCTs) by histological subtype (yolk sac tumor and teratoma).
OBJECTIVE
To assess prenatal air toxics exposure and risk for childhood germ cell tumors (GCTs) by histological subtype (yolk sac tumor and teratoma).
METHODS
In this case-control study, GCT cases less than 6 years (n = 243) identified from California Cancer Registry records were matched by birth year to cancer-free population controls (n = 147,100), 1984 to 2013. Routinely monitored air toxic exposures were linked to subjects' birth address. Logistic regression estimated GCT risks per interquartile range increase in exposure.
RESULTS
Prenatal exposure to various highly-correlated, traffic-related air toxics during the second trimester increased GCT risk, particularly 1,3-butadiene (odds ratio [OR] = 1.51; 95% confidence interval [CI] = 1.01, 2.26) and meta/para-xylene (OR = 1.56; 95% CI = 1.10, 2.21). Analyses by subtype indicated elevated ORs for yolk sac tumors but not teratomas.
CONCLUSION
Our estimated ORs are consistent with positive associations between some prenatal traffic-related air toxics and GCT risk, notably yolk sac tumors.
Topics: Air Pollutants; California; Child, Preschool; Endodermal Sinus Tumor; Environmental Exposure; Environmental Monitoring; Female; Humans; Odds Ratio; Pregnancy; Prenatal Exposure Delayed Effects; Registries; Teratoma; Vehicle Emissions
PubMed: 31045852
DOI: 10.1097/JOM.0000000000001609 -
Hinyokika Kiyo. Acta Urologica Japonica Aug 2001A 19-year-old male presented with dyspnea. Clinical examination revealed the left infant-head-sized testicular tumor, multiple lung metastases and retroperitoneal bulky... (Review)
Review
A 19-year-old male presented with dyspnea. Clinical examination revealed the left infant-head-sized testicular tumor, multiple lung metastases and retroperitoneal bulky lymph node metastasis with marked elevation of serum lactic dehydrogenase (LDH) and alpha-fetoprotein. Left radical orchiectomy followed by the chemotherapy with etoposide and cisplatin (EP) for 4 cycles was performed. The tumor weighed 1,700 g, and was pathologically diagnosed as mixed germ cell tumor consisting of embryonal carcinoma and yolk sac tumor. After the treatment, the tumor markers were normalized with partial response (PR) of lung metastases and complete response (CR) of retroperitoneal lymph node metastasis. Thereafter, biopsy of lung metastases through video-assisted thoracoscopic surgery (VATS) was performed, and pathologically no viable cells were detected. Five months after the treatment, he was seized with convulsion due to brain metastasis with hemorrhage. Therefore, a surgical resection of brain metastasis and 2nd line chemotherapy with etoposide, ifosfamide and cisplatin (VIP) chemotherapy for 3 cycles was performed. The patient has been free of recurrence for 21 months after the 2nd line chemotherapy.
Topics: Adult; Antineoplastic Combined Chemotherapy Protocols; Carcinoma, Embryonal; Cisplatin; Dyspnea; Endodermal Sinus Tumor; Etoposide; Humans; Lung Neoplasms; Lymphatic Metastasis; Male; Neoplasms, Multiple Primary; Orchiectomy; Testicular Neoplasms
PubMed: 11579605
DOI: No ID Found -
BMC Surgery Jul 202146XY partial gonadal dysgenesis (PGD) is a rare subtype of disorder of sex development (DSD). 46YY PGD is a congenital disease with atypical chromosomal, gonadal, or... (Review)
Review
BACKGROUND
46XY partial gonadal dysgenesis (PGD) is a rare subtype of disorder of sex development (DSD). 46YY PGD is a congenital disease with atypical chromosomal, gonadal, or anatomical sex development. The patient in this case report had male and female genitalia simultaneously. We created a flowchart of the differential diagnosis for clinicians.
CASE PRESENTATION
A 41-year-old male was admitted to the hospital complaining of lower quadrant abdominal pain for 1 day. Physical examination revealed that his penis size was normal, but a urethral orifice was located in the perineum area between the scrotum and anus. One small testicle was in the left scrotum, but no testicle was present on the right. The patient's abdomen was bulging, and he had lower abdominal pain. According to the emergency CT scan, a lesion (74*65 mm) was found in the right pelvis between the bladder and rectum. The lesion showed an unclear boundary and hematocele appearance. The lesion was removed by emergency surgery, and the pathology report indicated a mixed germ cell tumor with a seminoma and yolk sac tumors.
CONCLUSION
This article is a case report of germ cell tumors in 46XY PGD patients. The literature review summarizes the clinical diagnosis, and a flowchart is provided for physicians in future practice. The importance of this report is that it will help acquaint physicians with this rare disease and make the right initial clinical decision quickly through the use of this flowchart. However, the variants of special subtypes of 46XY DSD are myriad, and all the diagnoses could not be covered in one flowchart.
Topics: Adult; Endodermal Sinus Tumor; Female; Gonadal Dysgenesis; Hemorrhage; Humans; Male; Seminoma; Testicular Neoplasms
PubMed: 34217242
DOI: 10.1186/s12893-021-01302-3