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Oncology (Williston Park, N.Y.) Sep 1996Whether patients with clinical stage I nonseminomatous testicular germ-cell cancer (NSGCT) should be treated with orchiectomy and retroperitoneal lymph node dissection... (Review)
Review
Whether patients with clinical stage I nonseminomatous testicular germ-cell cancer (NSGCT) should be treated with orchiectomy and retroperitoneal lymph node dissection (RPLND) or orchiectomy and surveillance remains controversial. Proponents of the former approach cite the uncertainty and risks of monitoring young men who may harbor occult metastases, while proponents of the latter strategy contend that surgical staging overtreats 60% to 70% of men. Over the last few years, prognostic factors in the primary testicular tumor have helped clinicians make more rational decisions about whether RPLND or surveillance should follow initial orchiectomy. As of 1996, the most clinically useful prognostic factors are the percentage of embryonal carcinoma and the presence or absence of vascular invasion by tumor cells in the primary tumor. Ongoing work with flow cytometry, image analysis, proliferation markers, and oncogene and tumor-suppressor gene markers may allow us to further stratify patients as to their likelihood of occult metastases and permit rational "risk-adaptive" treatment.
Topics: Adult; Biomarkers, Tumor; Endodermal Sinus Tumor; Genetic Markers; Germinoma; Humans; Lymph Node Excision; Lymphatic Metastasis; Male; Neoplasm Staging; Orchiectomy; Prognosis; Retroperitoneal Space; Risk Factors; Risk Management; Testicular Neoplasms
PubMed: 8882926
DOI: No ID Found -
Medicine Jul 2021Primary mediastinal yolk sac tumors (PMYSTs) are a rare occurrence. As such, the clinicopathological features, treatment, and prognosis, of this disease still remain...
Primary mediastinal yolk sac tumors (PMYSTs) are a rare occurrence. As such, the clinicopathological features, treatment, and prognosis, of this disease still remain unclear. In this study, we aimed to provide further information relating to this rare malignancy in order to facilitate the creation of more specific clinical guidelines for the diagnosis and treatment of patients with PMYSTs.In this retrospective study, we recruited 15 patients who had been diagnosed with PMYST from four medical institutions to create a population-based cohort. We then used Kaplan-Meier analysis and the log-rank test to investigate and compare overall survival (OS) and progression-free survival (PFS).A total of 15 cases were identified. The mean age was 27.3 years (range: 19-34 years). The estimated 1- and 2-year PFS rates were 66.7% and 60.0%, respectively. The 1- and 2-year OS rates were both 73.3%. Computer tomography scans revealed tumors were located in the anterior middle mediastinum (5 cases), the anterior superior mediastinum (1 case), the left anterior mediastinum (3 cases), and the right anterior mediastinum (6 cases). Of the 15 patients receiving extended resections, the majority (40.0%) underwent tumor resection, partial pericardiotomy, pulmonary wedge resection, and mediastinal lymphadenectomy. R0 resections were achieved in eleven patients. Four patients underwent R2 resection and experienced postoperative complications, including pneumonia (2 cases), atelectasis (1 case), and bronchopleural fistula (1 case). Four patients developed postoperative lung metastasis. Three patients died due to progressive diseases. Disease recurred in all patients at a median of 8.0 months (range: 6.0-11.0 months).PMYST is a rare but highly malignant tumor with a poor prognosis. Tumor resection, with optimal extended surgical management, may provide patients with the best chance of a cure although postoperative complications relating to the pulmonary systems should be treated with caution.
Topics: Adult; Endodermal Sinus Tumor; Female; Humans; Kaplan-Meier Estimate; Lung Neoplasms; Male; Mediastinal Neoplasms; Outcome Assessment, Health Care; Postoperative Complications; Prognosis; Retrospective Studies
PubMed: 34398004
DOI: 10.1097/MD.0000000000026480 -
Modern Pathology : An Official Journal... Aug 2021Mesonephric carcinoma of the cervix is a rare tumor derived from Wolffian remnants. Mesonephric-like carcinomas of the ovary and endometrium, while morphologically...
Mesonephric carcinoma of the cervix is a rare tumor derived from Wolffian remnants. Mesonephric-like carcinomas of the ovary and endometrium, while morphologically similar, do not have obvious Wolffian derivation. Here, we sought to characterize the repertoire of genetic alterations in primary mesonephric and mesonephric-like carcinomas, in the distinct histologic components of mixed cases, as well as in matched primary tumors and metastases. DNA from microdissected tumor and normal tissue from mesonephric carcinomas (cervix, n = 8) and mesonephric-like carcinomas (ovarian n = 15, endometrial n = 13) were subjected to sequencing targeting 468 cancer-related genes. The histologically distinct components of four cases with mixed histology and four primary tumors and their matched metastases were microdissected and analyzed separately. Mesonephric-like carcinomas were underpinned by somatic KRAS mutations (25/28, 89%) akin to mesonephric carcinomas (8/8, 100%), but also harbored genetic alterations more frequently reported in Müllerian tumors. Mesonephric-like carcinomas that lacked KRAS mutations harbored NRAS (n = 2, ovary) or BRAF (n = 1, endometrium) hotspot mutations. PIK3CA mutations were identified in both mesonephric-like (8/28, 28%) and mesonephric carcinomas (2/8, 25%). Only mesonephric-like tumors harbored CTNNB1 hotspot (4/28, 14%) and PTEN (3/13, 23%) mutations. Copy number analysis revealed frequent gains of chromosomes 1q and 10 in both mesonephric (87% 1q; 50% chromosome 10) and mesonephric-like tumors (89% 1q; 43% chromosome 10). Chromosome 12 gains were more frequent in ovarian mesonephric-like carcinomas, and losses of chromosome 9 were more frequent in mesonephric than in mesonephric-like carcinomas (both p = 0.01, Fisher's exact test). The histologically distinct components of four mixed cases were molecularly related and shared similar patterns of genetic alterations. The progression from primary to metastatic lesions involved the acquisition of additional mutations, and/or shifts from subclonal to clonal mutations. Our findings suggest that mesonephric-like carcinomas are derived from a Müllerian substrate with differentiation along Wolffian/mesonephric lines.
Topics: Adult; Aged; Female; Genital Neoplasms, Female; Humans; Mesonephroma; Middle Aged; Mutation
PubMed: 33772212
DOI: 10.1038/s41379-021-00799-6 -
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 -
The American Journal of Pathology Feb 1980
Comparative Study Review
Topics: Animals; Disease Models, Animal; Female; Humans; Mesonephroma; Neoplasm Transplantation; Ovarian Neoplasms; Rats; Rats, Inbred Strains
PubMed: 6986787
DOI: No ID Found -
Journal of Pediatric Hematology/oncology Aug 2021The aim of the study was to explore the clinicopathologic characteristics of sacrococcygeal yolk sac tumor (SYST) associated with relapse and the role of sensitivity to...
The aim of the study was to explore the clinicopathologic characteristics of sacrococcygeal yolk sac tumor (SYST) associated with relapse and the role of sensitivity to neoadjuvant chemotherapy in predicting outcome. The authors investigated prognostic factors of age, stage, initial tumor size, pathologic response to neoadjuvant chemotherapy, and alfa fetoprotein. A total of 26 patients with SYST were enrolled. Neoadjuvant chemotherapy was administered to 20 cases. Six patients underwent resection as initial therapy. Recurrence occurred in 12 patients. Nine patients with specimens exhibiting no malignant component after chemotherapy did not experience recurrence. By contrast, relapses occurred in 7 of 11 patients with viable residual tumor after neoadjuvant chemotherapy. All relapsed patients still achieved partial remission or complete remission after salvage therapy. Five-year relapse-free survival and overall survival rates were 55.2% and 100%, respectively (median follow-up, 59.5 mo; range, 16 to 155). Patients with complete necrosis after neoadjuvant chemotherapy had a better outcome compared with children with viable residual tumor. Relapse-free survival of pediatric SYSTs in this cohort were still low and warrants the multidisciplinary effort.
Topics: Child, Preschool; Combined Modality Therapy; Disease-Free Survival; Endodermal Sinus Tumor; Female; Humans; Infant; Male; Neoadjuvant Therapy; Neoplasm Recurrence, Local; Neoplasm Staging; Prognosis; Retrospective Studies; Salvage Therapy; Survival Rate
PubMed: 33512871
DOI: 10.1097/MPH.0000000000002068 -
Acta Medica Portuguesa Jul 1998Prepubertal testis tumours (T.T) are rare, with different characteristics and clinical course to adults and with a better prognosis. The authors report the experience of...
Prepubertal testis tumours (T.T) are rare, with different characteristics and clinical course to adults and with a better prognosis. The authors report the experience of Maria Pia Hospital's over a 15 year period. There were 8 cases of T.T.: 3 Yolk sac tumours, 3 teratomas, 1 Leydig cell tumour and 1 epidermoide cyst. All patients are submitted to an inguinal orchiectomy. Follow-up ranged between six months and 14 years. There was no recurrence of the disease in seven patients are without disease recurrence. Mortality was nil.
Topics: Adolescent; Child; Child, Preschool; Endodermal Sinus Tumor; Epidermal Cyst; Humans; Infant; Leydig Cell Tumor; Male; Orchiectomy; Puberty; Teratoma; Testicular Neoplasms
PubMed: 9859508
DOI: No ID Found -
Communications Biology Sep 2020To elucidate the molecular pathogenesis of pediatric germ cell tumors (GCTs), we performed DNA methylation array analysis, whole transcriptome sequencing, targeted...
To elucidate the molecular pathogenesis of pediatric germ cell tumors (GCTs), we performed DNA methylation array analysis, whole transcriptome sequencing, targeted capture sequencing, and single-nucleotide polymorphism array analysis using 51 GCT samples (25 female, 26 male), including 6 germinomas, 2 embryonal carcinomas, 4 immature teratomas, 3 mature teratomas, 30 yolk sac tumors, and 6 mixed germ cell tumors. Among the 51 samples, 11 were from infants, 23 were from young children, and 17 were from those aged ≥10 years. Sixteen of the 51 samples developed in the extragonadal regions. Germinomas showed upregulation of pluripotent genes and global hypomethylation. Pluripotent genes were also highly expressed in embryonal carcinomas. These genes may play essential roles in embryonal carcinomas given that their binding sites are hypomethylated. Yolk sac tumors exhibited overexpression of endodermal genes, such as GATA6 and FOXA2, the binding sites of which were hypomethylated. Interestingly, infant yolk sac tumors had different DNA methylation patterns from those observed in older children. Teratomas had higher expression of ectodermal genes, suggesting a tridermal nature. Based on our results, we suggest that KIT, TNFRSF8, and ERBB4 may be suitable targets for the treatment of germinoma, embryonal carcinomas, and yolk sac tumors, respectively.
Topics: Carcinoma, Embryonal; Child; Child, Preschool; DNA Copy Number Variations; DNA Methylation; Endodermal Sinus Tumor; Female; Germinoma; Humans; Infant; Male; Neoplasms, Germ Cell and Embryonal; Oligonucleotide Array Sequence Analysis; Polymorphism, Single Nucleotide; Teratoma; Exome Sequencing
PubMed: 32999426
DOI: 10.1038/s42003-020-01267-8 -
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 -
The American Journal of Case Reports Aug 2021BACKGROUND A yolk sac tumor (YST) is a rare, malignant tumor of cells that line the yolk sac of the embryo. It most frequently occurs in the ovary (ovarian yolk sac...
BACKGROUND A yolk sac tumor (YST) is a rare, malignant tumor of cells that line the yolk sac of the embryo. It most frequently occurs in the ovary (ovarian yolk sac tumor: OYST) in children and adolescents. Thus, fertility-preservation treatment is a concern. CASE REPORT A 24-year-old nulliparous woman visited us for infertility treatment and then right OYST was detected. A unilateral right salpingo-oophorectomy, infra-colic omentectomy, ipsilateral lymph node dissection, and peritoneal biopsies were performed. Histological examination confirmed the diagnosis of a stage IC OYST. Six cycles of bleomycin-etoposide-cisplatin chemotherapy were performed. She had no recurrence over the next 16 months. She conceived by in-vitro fertilization, and abdominally gave birth to a term infant. Both mother and baby had a smooth recovery. CONCLUSIONS This case adds further evidence to the 5-year survival and progression-free survival following surgery and chemotherapy in OYSTs, while preserving fertility.
Topics: Adult; Antineoplastic Combined Chemotherapy Protocols; Endodermal Sinus Tumor; Etoposide; Female; Humans; Neoplasm Recurrence, Local; Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms; Pregnancy
PubMed: 34408122
DOI: 10.12659/AJCR.932091