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The American Journal of Case Reports Jan 2022BACKGROUND Mediastinal masses can originate from anatomical structures normally located in the mediastinum, or from structures that travel through the mediastinum during...
BACKGROUND Mediastinal masses can originate from anatomical structures normally located in the mediastinum, or from structures that travel through the mediastinum during embryogenesis. Initial presenting symptoms usually vary from shortness of breath, cough, chest pain, and superior vena cava syndrome to nonspecific constitutional symptoms (eg, fever, weight loss, fatigue). However, the initial presentation of a mediastinal mass with acute pericarditis has not been reported in the literature as far as we know. CASE REPORT A 20-year-old man presented to the Cardiology Clinic with chest pain and new pericardial effusion on echocardiography, both fulfilling the diagnostic criteria of acute pericarditis. The patient also had venous engorgement on the neck, and a chest X-ray followed by computed tomography imaging showed a large mediastinal mass. The serum tumor marker a-fetoprotein (AFP) was markedly elevated. The biopsy and immunohistochemistry revealed a high-grade malignant neoplasm - yolk sac tumor, which is a type of non-seminomatous germ cell tumor. The acute pericarditis resolved after administration of NSAID and colchicine. The patient was then started on chemotherapy. CONCLUSIONS The discussed case shows the rare presentation of an anterior mediastinal mass with acute pericarditis. This emphasizes the importance of a thorough review of systems and critical analysis of every sign and symptom at the time of initial presentation, which helps the physician to obtain appropriate imaging studies early in the course, leading to an early diagnosis and treatment of the disease, such as in this case of an extremely rare germ cell tumor.
Topics: Adult; Endodermal Sinus Tumor; Humans; Male; Mediastinal Neoplasms; Mediastinum; Pericarditis; Superior Vena Cava Syndrome; Young Adult
PubMed: 35077441
DOI: 10.12659/AJCR.932616 -
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 -
Pediatric Blood & Cancer Feb 2022Though outcomes for patients with recurrent/refractory malignant germ cell tumors (mGCTs) are poor, therapies targeting mTOR and EGFR inhibition have shown promise in...
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.
Topics: Clinical Trials, Phase II as Topic; Endodermal Sinus Tumor; Humans; Neoplasm Recurrence, Local; Neoplasms, Germ Cell and Embryonal; Prospective Studies; alpha-Fetoproteins
PubMed: 34866303
DOI: 10.1002/pbc.29451 -
Asian Journal of Surgery Jan 2022
Topics: Endodermal Sinus Tumor; Female; Humans; Infant; Vaginal Neoplasms
PubMed: 34848144
DOI: 10.1016/j.asjsur.2021.10.042 -
Archivos Argentinos de Pediatria Dec 2021Gynecological neoplasms in girls are rare and represent only less than 5 % of all childhood tumors. There are no statistics on the incidence of vaginal tumors at this...
Gynecological neoplasms in girls are rare and represent only less than 5 % of all childhood tumors. There are no statistics on the incidence of vaginal tumors at this stage in life. We present a 9-month-old girl evaluated for genital bleeding. Ultrasound reveals a vaginal solid mass and vaginoscopy reports a friable tumor. AFP is elevated. A yolk sac tumor is confirmed by biopsy she receives chemotherapy. Within a year after diagnosis, she remains tumor-free. This is a case of interest, not only because of its rarity, but also because a rapid diagnosis of a yolk sac tumor improves outcomes and patient's survival rates.
Topics: Child; Endodermal Sinus Tumor; Female; Hemorrhage; Humans; Infant; Ultrasonography; Vaginal Neoplasms
PubMed: 34813248
DOI: 10.5546/aap.2021.e643 -
The American Journal of Case Reports Oct 2021BACKGROUND Existing literature has detailed occurrences of retroperitoneal yolk sac tumors (YSTs) as the result of metastasis from a primary gonadal site. However,...
BACKGROUND Existing literature has detailed occurrences of retroperitoneal yolk sac tumors (YSTs) as the result of metastasis from a primary gonadal site. However, primary retroperitoneal YSTs are extremely rare, thus remaining a challenge to diagnose and treat. We present a complex case of a large primary retroperitoneal YST in a man treated with neoadjuvant chemotherapy followed by surgical resection. CASE REPORT A 31-year-old man presented with a chief symptom of severe lower abdominal pain. Diagnostic imaging revealed a large, rapidly progressing neoplasm in the retroperitoneal region, initially thought to be a sarcoma. However, the pathological results from further biopsies found the mass to be a retroperitoneal YST, which was tethered to a large portion of the small bowel. A testicular ultrasound was used to confirm that the mass was a primary tumor with no origins in the gonads. The tumor progressed to involve several fistulas connected to the small intestine and anterior abdominal wall. The patient was treated with 3 cycles of bleomycin, etoposide, and cisplatin, followed by surgical excision of the residual mass. The patient retained normal gastrointestinal functions, and subsequent imaging revealed no evidence of recurrence 2.5 years following resection. CONCLUSIONS Owing to the rarity of extragonadal primary YSTs, diagnostic and treatment standards have not yet been sufficiently explored. Our case demonstrates that a combination of chemotherapy and surgical resection should be considered for select patients with primary YST in the retroperitoneal region.
Topics: Adult; Antineoplastic Combined Chemotherapy Protocols; Cisplatin; Endodermal Sinus Tumor; Etoposide; Humans; Male; Neoplasm Recurrence, Local; Retroperitoneal Neoplasms
PubMed: 34705815
DOI: 10.12659/AJCR.933258 -
Journal of Pediatric and Adolescent... Apr 2022Extragonadal yolk sac tumors (YSTs) occurring in the uterus are extremely rare. To report a uterine YST case in a prepubertal girl and review literature on uterine YST... (Review)
Review
BACKGROUND
Extragonadal yolk sac tumors (YSTs) occurring in the uterus are extremely rare. To report a uterine YST case in a prepubertal girl and review literature on uterine YST to outline clinical management in diagnosis and treatment.
CASE
We present a case of a 2-year-old girl who presented with vaginal bleeding and a pelvic mass. The diagnosis of YST was confirmed via biopsy. After four cycles of neoadjuvant chemotherapy combined with cisplatin, etoposide, and bleomycin (PEB), vaginoscopic examination and laparoscopy revealed a uterine YST without metastasis. The patient was treated with laparoscopic hysterectomy and two cycles of PEB postoperatively. During the 18 months of follow-up, the patient remained disease-free.
SUMMARY AND CONCLUSION
Primary uterine YST is extremely rare and no treatment guidelines have been established to date. Surgery combined with PEB chemotherapy is considered effective for uterine YST.
Topics: Child, Preschool; Endodermal Sinus Tumor; Female; Humans; Hysterectomy; Uterine Neoplasms; Uterus; Yolk Sac
PubMed: 34610440
DOI: 10.1016/j.jpag.2021.09.005 -
Medicine Sep 2021Mesonephric adenocarcinoma (MNAC) is a very rare tumor that originates from mesonephric duct remnants of the female genital tract. Only a few cases were reported in the...
Mesonephric adenocarcinoma (MNAC) is a very rare tumor that originates from mesonephric duct remnants of the female genital tract. Only a few cases were reported in the literature, and most of them occurred in the cervix, extremely rare in the uterine body and ovary. MNAC was rarely reported to arise in the uterine corpus, but never was reported in the ovary. Mesonephric-like adenocarcinomas are recently suggested to describe these neoplasms arising from the uterine corpus and ovary. Due to the rareness of the disease, little is known regarding clinical characteristics, pathological diagnosis, prognosis, and optimal management strategy of MNAC in the female reproductive system. We report a series of MNACs arising from the vagina, cervix, uterine corpus, ovary, and fallopian tube, to summarize the clinical characteristics, pathological diagnosis, treatment, and prognosis.We retrospectively analyzed all MNACs in the female genital tract derived from our institute from January 2010 till January 2020. Patients' clinical details and follow-up were obtained from hospital records and scans were obtained from picture archiving and communication system.A total of 11 patients were included. The median age of onset of symptoms was 52 years. All patients underwent total hysterectomy and bilateral salpingo-oophorectomy, and lymph node dissections were performed in 7/11 (63.6%) patients. Two/eleven (18.2%) received neoadjuvant chemotherapy before surgery and 7/11 (63.6%) received adjuvant chemotherapy after primary surgery. Of the 11 patients, only 1 patient received adjuvant radiation therapy. One patient died at the end point of this study, 9 patients (81.8%) survived and 1 patient was lost to follow-up. The mean follow-up duration was 33.5 months.Although there is no consensus for the optimal treatment of this rare disease, radical surgery is considered to be the initial choice for localized lesion. Given the high malignancy, the majority of MNAC or mesonephric-like adenocarcinoma patients who underwent adjuvant chemotherapy received 4 to 8 cycles of carboplatin/paclitaxel as a first-line treatment after primary surgery with a median progression-free survival of 12 months. Treatment for recurrent disease in these patients included gemcitabine, carboplatin, and paclitaxel. Radiation was very limited in the treatment of the disease.
Topics: Adenocarcinoma; Adult; Aged; China; Female; Genital Neoplasms, Female; Genitalia, Female; Humans; Mesonephroma; Middle Aged; Retrospective Studies
PubMed: 34477176
DOI: 10.1097/MD.0000000000027174 -
Anticancer Research Sep 2021Testicular cancer constitutes 1.0% of male cancer and typically carries a good prognosis. As far as we are aware, the role for hydrogen sulfide in testicular cancer and...
BACKGROUND
Testicular cancer constitutes 1.0% of male cancer and typically carries a good prognosis. As far as we are aware, the role for hydrogen sulfide in testicular cancer and the level of hydrogen sulfide-synthesizing enzyme have never been addressed. Here we examined cystathionine gamma-lyase (CSE) expression in several germ-cell testicular tumors.
MATERIALS AND METHODS
Tissue microarrays were employed to examine CSE expression in 32 benign testicular samples, 88 testicular seminomas, 34 embryonal carcinomas, 4 mature teratomas, and 16 yolk sac tumors, and CSE expression was compared to that seen in benign testicular tissue.
RESULTS
Compared to benign testicular tissue, CSE expression was increased in all three types of testicular neoplasm but not in mature teratomas. Highest CSE expression was identified in embryonal carcinomas, which often show a relatively aggressive clinical course.
CONCLUSION
For the first time, we show that CSE is increased in several common testicular germ-cell tumor types.
Topics: Carcinoma, Embryonal; Case-Control Studies; Cystathionine gamma-Lyase; Endodermal Sinus Tumor; Gene Expression Profiling; Gene Expression Regulation, Neoplastic; Humans; Male; Seminoma; Testicular Neoplasms; Tissue Array Analysis; Up-Regulation
PubMed: 34475040
DOI: 10.21873/anticanres.15225 -
Head and Neck Pathology Jun 2022SMARCB1 (INI1) deficient carcinoma (SDC) is a newly-described, aggressive, high-grade malignancy of the adult population. Rarely, these tumors demonstrate yolk sac... (Review)
Review
SMARCB1 (INI1) deficient carcinoma (SDC) is a newly-described, aggressive, high-grade malignancy of the adult population. Rarely, these tumors demonstrate yolk sac differentiation. Treatment protocols are not defined due to the rarity of this entity. A 55 year-old-male presented with a tumor originating in the maxillary sinus. He was treated with neoadjuvant therapy followed by radical surgery and adjuvant treatment. We review the literature and discuss the course of disease and treatments of sinonasal SDC with yolk sac tumor differentiation. To our knowledge, this is the sixth reported case of sinonasal SDC with yolk sac tumor differentiation. This is the first publication describing the clinical course and efficacy of therapeutic interventions.
Topics: Adult; Biomarkers, Tumor; Carcinoma; Endodermal Sinus Tumor; Humans; Male; Middle Aged; SMARCB1 Protein
PubMed: 34420180
DOI: 10.1007/s12105-021-01375-9