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Brain Pathology (Zurich, Switzerland) Jan 2011Embryonal brain tumors are a heterogeneous group of neoplasms united by the presence of poorly differentiated stem-like cells. Molecular details are increasingly being... (Review)
Review
Embryonal brain tumors are a heterogeneous group of neoplasms united by the presence of poorly differentiated stem-like cells. Molecular details are increasingly being used to separate them into biologically and clinically meaningful groups. For medulloblastoma, integrated mRNA expression profiling and DNA analysis by a number of research groups defines 4-6 distinctive molecular variants. A subset with prominent Wnt activity is associated with good clinical outcomes and classic histology. Medulloblastomas showing a Hedgehog gene expression signature are frequently of the desmoplastic/nodular subtype. Interestingly, Hedgehog activity is found in tumors arising either in infants or older teenagers and adults. The association of clinically aggressive medulloblastoma with MYC expression, large cell/anaplastic change and high levels of photoreceptor differentiation transcripts has also been noted in several studies. Immunohistochemical analysis of just one or two genes per molecular medulloblastoma variant may be sufficient for accurate classification, and this would be of great practical utility if validated. Advances have also been made in the classification of central nervous system (CNS) Primitive Neuroectodermal Tumors (PNET), as several groups have identified an amplicon at chromosome 19q13.41-42, which appears to define a unique PNET subtype associated with prominent true rosettes, young age and very poor outcomes.
Topics: Brain Neoplasms; Carcinoma, Embryonal; Humans; Medulloblastoma; Neuroectodermal Tumors, Primitive; Pathology, Molecular
PubMed: 21129063
DOI: 10.1111/j.1750-3639.2010.00455.x -
CA: a Cancer Journal For Clinicians 1983A retrospective review of the clinical records of 31 patients with esthesioneuroblastoma is presented. A bimodal age distribution was noted. The tumor is extremely rare...
A retrospective review of the clinical records of 31 patients with esthesioneuroblastoma is presented. A bimodal age distribution was noted. The tumor is extremely rare among blacks. Most patients presented with locally advanced disease. However, regional and distant metastases at the time of initial diagnosis are uncommon. Local recurrence at the primary site was very common, and this reflects either the conservative initial surgical treatment employed or the multicentric nature of the tumor. Cervical lymph node metastasis is present in less than 10 percent of patients at the time of diagnosis. The survival rates were better in patients with early stages of disease. From this study, we conclude that the current management of these tumors should consist of a combination of radiation therapy and surgery. Radical resection followed by postoperative radiation therapy appears to be the treatment combination of choice. The five-year survival rate in our series was 52 percent.
Topics: Adolescent; Adult; Aged; Child; Female; Humans; Lymphatic Metastasis; Male; Middle Aged; Nasal Mucosa; Neoplasm Staging; Neuroectodermal Tumors, Primitive, Peripheral; Nose Neoplasms; Prognosis
PubMed: 6404523
DOI: 10.3322/canjclin.33.3.154 -
Journal of the American Veterinary... Jan 2017
Topics: Animals; Brain Neoplasms; Dog Diseases; Dogs; Neuroectodermal Tumors, Primitive
PubMed: 28001108
DOI: 10.2460/javma.250.1.55 -
The British Journal of Ophthalmology Jan 1962
Topics: Acetazolamide; Adult; Ciliary Body; Eye Enucleation; Glaucoma; Humans; Male; Neuroectodermal Tumors, Primitive; Uveal Neoplasms
PubMed: 18170756
DOI: 10.1136/bjo.46.1.58 -
The British Journal of Ophthalmology May 1969
Topics: Child, Preschool; Diagnosis, Differential; Eye Neoplasms; Female; Humans; Neuroectodermal Tumors, Primitive, Peripheral; Retina; Retinoblastoma
PubMed: 5772621
DOI: 10.1136/bjo.53.5.352 -
Indian Journal of Ophthalmology Jun 2019Intraocular medulloepithelioma is a nonhereditary neoplasm of childhood arising from primitive medullary epithelium. It most often involves the ciliary body. Most... (Review)
Review
Intraocular medulloepithelioma is a nonhereditary neoplasm of childhood arising from primitive medullary epithelium. It most often involves the ciliary body. Most patients present between 2 and 10 years of age with loss of vision, pain, leucocoria, or conjunctival congestion. The mass appears as a grey-white ciliary body lesion with intratumoral cysts. Presence of a neoplastic cyclitic membrane with extension to retrolental region is characteristic. Secondary manifestations like cataract and neovascular glaucoma may be present in up to 50% and 60% patients, respectively. These could be the first signs for which, unfortunately, about 50% patients undergo surgery before recognition of the hidden tumor. Systemic correlation with pleuropulmonary blastoma (DICER1 gene) has been documented in 5% cases. Histopathology shows primitive neuroepithelial cells arranged as cords closely resembling the primitive retina. Histopathologically, the tumor is classified as teratoid (containing heteroplastic elements) and nonteratoid (containing medullary epithelial elements), each of which are further subclassified as benign or malignant. Retinoblastoma-like and sarcoma-like areas may be seen within the tissue. The treatment modality depends on tumor size and extent of invasion. For small localized tumors (≤3-4 clock hours), conservative treatments with cryotherapy, plaque radiotherapy, or partial lamellar sclerouvectomy (PLSU) have been used. Plaque brachytherapy is generally preferred for best tumor control. Advanced and extensive tumors require enucleation. Rare use of intra-arterial and intravitreal chemotherapy has been employed. Systemic prognosis is favorable, but those with extraocular extension and orbital involvement show risk for local recurrence and metastatic disease, which can lead to death.
Topics: Combined Modality Therapy; DEAD-box RNA Helicases; DNA, Neoplasm; Disease Management; Eye Neoplasms; Humans; Mutation; Neuroectodermal Tumors, Primitive; Ribonuclease III
PubMed: 31124483
DOI: 10.4103/ijo.IJO_845_19 -
CNS Oncology 2015Tumors of the CNS are among the commonest malignancies occurring in teenage/young adult patients (i.e., those aged between 15 and 24 years). The treatment of this... (Review)
Review
Tumors of the CNS are among the commonest malignancies occurring in teenage/young adult patients (i.e., those aged between 15 and 24 years). The treatment of this patient population is challenging. Adolescence and young adulthood are a turbulent period of life, with physical, emotional, social and cognitive changes. Best practice advocates their treatment in dedicated teenage/young adult units, with multidisciplinary team input and access to clinical trials. Treatment of CNS malignancies is dependent upon histological subtype and staging, with varying combinations of surgery, radiotherapy and chemotherapy used. Clinical trials directly targeted at this patient population are rare; treatments are based on pediatric protocols as studies have demonstrated improved outcomes in patients (with other malignancies) treated as such. Scope for improvement lies in minimizing patient risk of recurrence and long-term sequelae of treatment. Molecular characterization of tumors may provide further information.
Topics: Adolescent; Brain Neoplasms; Clinical Trials as Topic; Glioma; Humans; Neoplasms, Germ Cell and Embryonal; Neuroectodermal Tumors, Primitive; United Kingdom; Young Adult
PubMed: 26118974
DOI: 10.2217/cns.15.14 -
Archives of Pathology & Laboratory... Feb 2007Primary small round cell tumors of the bone are a heterogeneous group of malignant neoplasms presenting predominantly in children and adolescents. They include Ewing... (Review)
Review
CONTEXT
Primary small round cell tumors of the bone are a heterogeneous group of malignant neoplasms presenting predominantly in children and adolescents. They include Ewing sarcoma/peripheral neuroectodermal tumor or Ewing family tumors, lymphoma, mesenchymal chondrosarcoma, and small cell osteosarcoma. Even though they share many morphological similarities, their unique biological and genetic characteristics have provided substantial insights into the pathology of these diverse neoplasms.
OBJECTIVE
To provide an overview of the clinical, radiologic, pathologic, and genetic characteristics of these tumors along with a pertinent review of the literature.
DATA SOURCES
A literature search using PubMed and Ovid MEDLINE was performed, and data were obtained from various articles pertaining to clinicopathologic, biological, and genetic findings in these tumors. Additionally, findings from rare cases have been included from author's subspecialty experience.
CONCLUSION
The diagnosis of small round cell tumors can be made accurately by applying clinicopathologic criteria, as well as a panel of immunohistochemical and genetic studies in appropriate cases. Molecular genetic studies may provide further insight into the biology, histogenesis, and prognosis of these tumors.
Topics: Adolescent; Adult; Bone Neoplasms; Child; Chondrosarcoma; Humans; Immunohistochemistry; Neuroectodermal Tumors, Primitive; Osteosarcoma; Prognosis; Sarcoma, Ewing; Treatment Outcome
PubMed: 17284103
DOI: 10.5858/2007-131-192-SRCTOB -
Orphanet Journal of Rare Diseases Jun 2019The pathological characteristics, treatment strategies and prognosis of ovarian primary primitive neuroectodermal tumor (PNET) were unclear due to the rarity of PNET.... (Review)
Review
BACKGROUND
The pathological characteristics, treatment strategies and prognosis of ovarian primary primitive neuroectodermal tumor (PNET) were unclear due to the rarity of PNET. All cases treated at Peking Union Medical College Hospital (PUMCH) between 1975 and 2016 and published in the English literature between 1980 to 2017 were reviewed.
RESULTS
Finally four cases from PUMCH and 15 cases in the literature were included. The median age was 25 years (range 13-79), and the median diameter of the tumors was 13.4 cm (range 5.0-30.0). The most common initial symptoms were abdominal pain, bloating and a pelvic mass. Diagnosis primarily depended on immunohistochemical and fluorescence in situ hybridization data. Treatment consisted of surgery, various chemotherapy regimens and/or radiotherapy. The 5-year overall survival (OS) and progression-free survival (PFS) rates were 15 and 52%, respectively. For patients with OS and PFS > 12 months, the median ages were 21 years (range 13-35) and 17 years (range 13-35), respectively, while for patients with OS < 12 months and PFS < 12 months, the median ages were 48 years (range 14-79) and 25 years (range 18-79), respectively.
CONCLUSIONS
No standard therapy for ovarian primary PNET exists, and an individualized strategy is recommended. Young patients seem to have better prognoses.
Topics: Adolescent; Adult; Aged; Female; Humans; Middle Aged; Neuroectodermal Tumors, Primitive; Ovarian Neoplasms; Prognosis; Young Adult
PubMed: 31217017
DOI: 10.1186/s13023-019-1106-5 -
PloS One 2015To study the differential expression of microRNA (miRNA) profiles between intraocular medulloepithelioma (ME) and normal control tissue (CT).
PURPOSE
To study the differential expression of microRNA (miRNA) profiles between intraocular medulloepithelioma (ME) and normal control tissue (CT).
MATERIAL AND METHODS
Total RNA was extracted from formalin fixed paraffin embedded (FFPE) intraocular ME (n=7) and from age matched ciliary body controls (n=8). The clinical history and phenotype was recorded. MiRNA profiles were determined using the Affymetrix GeneChip miRNA Arrays analyzed using expression console 1.3 software. Validation of significantly dysregulated miRNA was confirmed by quantitative real-time PCR. The web-based DNA Intelligent Analysis (DIANA)-miRPath v2.0 was used to perform enrichment analysis of differentially expressed (DE) miRNA gene targets in Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway.
RESULTS
The pathologic evaluation revealed one benign (benign non-teratoid, n=1) and six malignant tumors (malignant teratoid, n=2; malignant non-teratoid, n = 4). A total of 88 miRNAs were upregulated and 43 miRNAs were downregulated significantly (P<0.05) in the tumor specimens. Many of these significantly dysregulated miRNAs were known to play various roles in carcinogenesis and tumor behavior. RT-PCR validated three significantly upregulated miRNAs and three significantly downregulated miRNAs namely miR-217, miR-216a, miR-216b, miR-146a, miR-509-3p and miR-211. Many DE miRNAs that were significant in ME tumors showed dysregulation in retinoblastoma, glioblastoma, and precursor, normal and reactive human cartilage. Enriched pathway analysis suggested a significant association of upregulated miRNAs with 15 pathways involved in prion disease and several types of cancer. The pathways involving significantly downregulated miRNAs included the toll-like receptor (TLR) (p<4.36E-16) and Nuclear Factor kappa B (NF-κB) signaling pathways (p<9.00E-06).
CONCLUSIONS
We report significantly dysregulated miRNAs in intraocular ME tumors, which exhibited abnormal profiles in other cancers as well such as retinoblastoma and glioblastoma. Pathway analysis of all dysregulated miRNAs shared commonalities with other cancer pathways.
Topics: Adolescent; Case-Control Studies; Child; Child, Preschool; Down-Regulation; Female; Gene Expression Profiling; Humans; Infant; Male; MicroRNAs; NF-kappa B; Neuroectodermal Tumors, Primitive; Signal Transduction; Toll-Like Receptors; Transcriptome; Up-Regulation
PubMed: 25807141
DOI: 10.1371/journal.pone.0121706