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Histopathology Jan 2017Sacrococcygeal teratomas are rare tumours that occur most frequently in neonates, although adult cases also occur. The molecular pathogenesis of these tumours and their...
AIMS
Sacrococcygeal teratomas are rare tumours that occur most frequently in neonates, although adult cases also occur. The molecular pathogenesis of these tumours and their long-term prognosis is uncertain. We investigated the i(12p) status of a large number of primary sacrococcygeal teratomas in both children and adults, including cases with malignant germ cell tumour elements.
METHODS AND RESULTS
Fifty-four sacrococcygeal teratoma specimens from 52 patients were identified, and available follow-up information was obtained. Fluorescence in-situ hybridization analysis was performed to identify isochromosome 12p [i(12p)] abnormalities on paraffin blocks of the tumours. Among the 48 paediatric patients, there were 44 teratomas and four tumours with combined teratoma and yolk sac tumour (one of whom also had primitive neuroectodermal tumour). The teratomas included 37 mature teratomas and 11 immature teratomas (four grade 1, two grade 2, and five grade 3). The 44 teratomas lacking a yolk sac tumour component were all negative for i(12p). The four tumours with a yolk sac tumour component were all positive for i(12p). The four adult cases all lacked non-teratomatous germ cell tumour components, immature elements, and i(12p). Follow-up information was available for 32 patients. Two patients with teratoma had recurrence, but were alive with no evidence of disease after long-term follow-up. One patient with combined teratoma and yolk sac tumour had recurrence 7 months after resection. The other patients were alive with no evidence of disease at last follow-up.
CONCLUSIONS
Our data suggest that paediatric sacrococcygeal teratomas should be considered as two distinct groups with divergent histogenetic pathways. The prognosis of these tumours is excellent, despite rare recurrence.
Topics: Adult; Child; Child, Preschool; Chromosomes, Human, Pair 12; Endodermal Sinus Tumor; Female; Humans; In Situ Hybridization, Fluorescence; Infant; Infant, Newborn; Isochromosomes; Male; Middle Aged; Neuroectodermal Tumors, Primitive, Peripheral; Sacrococcygeal Region; Teratoma; Young Adult
PubMed: 27521765
DOI: 10.1111/his.13062 -
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 -
Nature Communications Jun 2021Yolk sac tumors (YSTs) are a major histological subtype of malignant ovarian germ cell tumors with a relatively poor prognosis. The molecular basis of this disease has...
Yolk sac tumors (YSTs) are a major histological subtype of malignant ovarian germ cell tumors with a relatively poor prognosis. The molecular basis of this disease has not been thoroughly characterized at the genomic level. Here we perform whole-exome and RNA sequencing on 41 clinical tumor samples from 30 YST patients, with distinct responses to cisplatin-based chemotherapy. We show that microsatellite instability status and mutational signatures are informative of chemoresistance. We identify somatic driver candidates, including significantly mutated genes KRAS and KIT and copy-number alteration drivers, including deleted ARID1A and PARK2, and amplified ZNF217, CDKN1B, and KRAS. YSTs have very infrequent TP53 mutations, whereas the tumors from patients with abnormal gonadal development contain both KRAS and TP53 mutations. We further reveal a role of OVOL2 overexpression in YST resistance to cisplatin. This study lays a critical foundation for understanding key molecular aberrations in YSTs and developing related therapeutic strategies.
Topics: Adolescent; Adult; Apoptosis; China; Computational Biology; DNA Copy Number Variations; Drug Resistance, Neoplasm; Endodermal Sinus Tumor; Exome; Female; Gene Expression Regulation, Neoplastic; Genomics; Gonadal Dysgenesis; Humans; Male; Mutation; Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms; Phylogeny; Transcription Factors; Exome Sequencing
PubMed: 34117242
DOI: 10.1038/s41467-021-23681-0 -
Histopathology Oct 2017Accurate histological diagnosis and classification of germ cell tumours (GCTs) is key to informing successful therapeutic and surveillance strategy. The modern...
AIMS
Accurate histological diagnosis and classification of germ cell tumours (GCTs) is key to informing successful therapeutic and surveillance strategy. The modern therapeutic approach for yolk sac tumour (YST) is highly curative. Because YST takes on a large morphological spectrum, it can be confused for other GCT subtypes as well as somatic carcinomas, particularly when YST presents in an extragonadal or a metastatic setting. Currently available immunohistochemical markers are limited by suboptimal sensitivity and specificity. We reported recently that ZBTB16 is a sensitive and specific marker for testicular YST. ZBTB16 is absent in other GCTs and in most common somatic carcinomas, including those of gastrointestinal, pancreatobillary, respiratory, genitourinary and gynaecological tracts. The purpose of this study is to investigate the diagnostic utility of ZBTB16 in the settings of metastatic and extragonadal YST.
METHODS AND RESULTS
We studied 32 archived metastatic and four extragonadal primary YSTs as well as 51 somatic malignancies for their immunohistochemical expression of ZBTB16. For comparison, α-fetoprotein (AFP) and glypican-3 were also studied in parallel. Our results demonstrated an overall sensitivity of 91.6% for ZBTB16 in detecting metastatic and extragonadal YSTs. The non-YST elements (teratoma and embryonal carcinoma) in 15 YST-containing metastatic mixed GCTs were non-reactive. With the exception of occasional myoepithelial cells of salivary gland carcinoma, all the 51 somatic malignancies were negative for ZBTB16.
CONCLUSIONS
ZBTB16 is a sensitive and specific marker for YST and is diagnostically superior to AFP and glypican-3 in metastatic and extragonadal settings.
Topics: Aged; Biomarkers, Tumor; Endodermal Sinus Tumor; Female; Humans; Immunohistochemistry; Male; Microtubule-Associated Proteins; Neoplasm Metastasis; Promyelocytic Leukemia Zinc Finger Protein; Sensitivity and Specificity; alpha-Fetoproteins
PubMed: 28581124
DOI: 10.1111/his.13276 -
Journal of Clinical Pathology Nov 1996A case of pancreatoblastoma arising in a five year old girl was analysed using histochemical and immunohistochemical methods. The tumour was composed of tubular... (Review)
Review
A case of pancreatoblastoma arising in a five year old girl was analysed using histochemical and immunohistochemical methods. The tumour was composed of tubular gland-like structures, squamoid components and some small round cells surrounding tubular structures. The cytoplasm of the small round cells and a few of the squamoid cells was positive on staining with Grimelius argyrophil stain. Immunohistochemically, tumour tissue was positive for neurone specific enolase. The cytoplasm of some of the small round cells was positive for insulin, glucagon, somatostatin, pancreatin polypeptide, thyroid stimulating hormone, follicle stimulating hormone, and neurotensin. These results suggest that this tumour arose from primitive multipotential stem cells, showing exocrine and neuroendocrine differentiation.
Topics: Child, Preschool; Endodermal Sinus Tumor; Female; Humans; Pancreatic Neoplasms
PubMed: 8944621
DOI: 10.1136/jcp.49.11.952 -
Neurology India 2023Endodermal sinus tumor (EST) occurs most frequently in the gonads and is relatively rare in other sites, particularly in the spinal cavity. We report a 19-year-old woman... (Review)
Review
Endodermal sinus tumor (EST) occurs most frequently in the gonads and is relatively rare in other sites, particularly in the spinal cavity. We report a 19-year-old woman who presented with back pain and weakness of both lower extremities who was found to have an EST in the spinal canal cavity. She had severely elevated serum alpha-fetoprotein (AFP) level at presentation. Magnetic resonance imaging (MRI) revealed the mass in the spinal canal. The tumor was excised. Serum AFP returned to normal after three cycles of chemotherapy. We describe the imaging findings and the macroscopic and microscopic features of this rare tumor. EST is a relatively rare malignant germ cell tumor that usually originates in the gonads and has poor prognosis. This is a rare case of the primary EST in the spinal canal. Radiologists need to be aware of the MRI appearance of extragonadal EST.
Topics: Female; Humans; Young Adult; Adult; Endodermal Sinus Tumor; alpha-Fetoproteins
PubMed: 37322756
DOI: 10.4103/0028-3886.378678 -
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 -
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 -
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 -
International Journal of Clinical and... 2015We report one case of yolk sac tumor of the ear and review the literature. The patient was a 9-month boy who scratched his right ear repeatedly one month ago. Computed... (Review)
Review
We report one case of yolk sac tumor of the ear and review the literature. The patient was a 9-month boy who scratched his right ear repeatedly one month ago. Computed tomography scan showed an irregular elongated mass image measuring 42×16 mm was found in the right external auditory canal. The tumor was located underneath of the epidermis with ulceration. Mild or moderate atypical round or oval tumor cells were arranged in nest and reticular pattern around vesicular or cystic spaces. Tumor cells had abundant eosinophilic or clear cytoplasm and marked nucleoli. Mitotic figures were about 7/10 HPF. Poorly formed Schiller-Duvall body was occasionally present. The stroma was loose and rich in capillaries. Hyaline globules could be found in the stroma. Immunohistochemistry staining showed that tumor cells were positive for cytokeratin, SALL4, glypican-3, focal positive for EMA, vimentin, CD10, and CD34, but negative for a-fetoprotein, HCG, PLAP. The serum α-fetoprotein was 664.60 ng/mL (normal, ≤ 25 ng/mL). Yolk sac tumor of the ear is extremely rare, especially α-fetoprotein negative expression in our case. The differential diagnosis includes embryonal rhabdomyosarcoma, paraganglioma, myoepithelioma, carcinoma of skin appendages, and metastatic renal cell carcinoma.
Topics: Biomarkers, Tumor; Ear Canal; Ear Neoplasms; Endodermal Sinus Tumor; Humans; Immunohistochemistry; Infant; Male
PubMed: 26823835
DOI: No ID Found