In clinical practice, she concentrates on germ cell tumors, while her epidemiologic research primarily focuses on colorectal cancer screening and prevention. (dana-farber.org)
and (3) treatment of germ cell tumors in pediatric patients. (dana-farber.org)
In clinical care, Dr. Frazier is the national expert on germ cell tumors in pediatric patients and oversees the care of these patients referred to DFCI. (dana-farber.org)
In addition, she is cochair of two national protocols that opened in 1999 for the treatment of low-risk and high-risk pediatric germ cell tumors and chair of the COG Germ Cell subcommittee in COG Rare Tumors. (dana-farber.org)
Markers have been most helpful in the workup of patients with germ cell tumors. (medscape.com)
In addition to their histologic characteristics, germ cell tumors retain molecular characteristics of their primordial lineage. (medscape.com)
Other biological markers for germ cell tumors include lactate dehydrogenase isoenzymes and placental alkaline phosphatase, although these are less specific. (medscape.com)
AFP is a glycoprotein produced by fetal yolk sac elements and is produced by a wide range of cancers , including gastric , liver, and colon adenocarcinoma , as well as extracranial germ cell tumors. (medscape.com)
Non-germ cell tumors can derive from pineal parenchymal cells, as well as from surrounding tissue. (medscape.com)
It is considered an embryonal tumor because it arises from cells partially differentiated or still undifferentiated from birth, usually neuroepithelial cells, stem cells destined to turn into glia or neurons. (wikipedia.org)
Histologically, it is similar to other CNS embryonal tumors, such as medulloblastoma, but different regarding genetic factors. (wikipedia.org)
The current (5th) edition of the WHO Classification of Tumors of the Central Nervous System classifies embryonal tumor of the central nervous system into six subtypes: medulloblastoma, cribiform neuroepithelial tumor, embryonal tumor with multilayered rosettes, CNS neuroblastoma, FOXR2-activated, CNS tumor with BCOR internal tandem duplication, and CNS embryonal tumor. (wikipedia.org)
Histologically, ETMRs were recognized as separate entities named medulloepithelioma, ependymoblastoma, and embryonal tumor with abundant neuropil and true rosettes (ETANTR). (wikipedia.org)
Current strategies are based on treatments for other embryonal tumors of the CNS. (wikipedia.org)
The World Health Organization 2021 Classification (WHO CNS5), based on an integrated taxonomy with a strong emphasis on molecular profiling, established two types of embryonal tumors: medulloblastomas and other CNS embryonal tumors. (medlink.com)
Medulloblastoma is the most common embryonal brain tumor, whereas other embryonal tumor types are considered "rare" and typically affect infants and very young children. (medlink.com)
In contrast to medulloblastomas, which by definition originate from the cerebellum or dorsal brainstem, other CNS embryonal tumors may arise across the neuraxis. (medlink.com)
Due to the unique features of the population affected by these entities, rare embryonal tumors deserve specific understanding, comprehensive diagnostic tools, and the development of much-needed novel tailored treatment approaches prioritizing less-toxic therapies to the immature nervous system. (medlink.com)
In this article, the authors provide an overview of current concepts of clinicopathologic characteristics, specific molecular diagnosis, and general treatment strategies for these rare embryonal tumors of childhood. (medlink.com)
WHO CNS5 defines three main entities: embryonal tumor with multilayered rosettes (ETMR), CNS neuroblastoma FOXR2 -activated, and CNS tumor with BCOR internal tandem duplication. (medlink.com)
Recent advances in the molecular diagnosis and treatment of pineoblastoma, a rare embryonal tumor of the pineal gland with particular penetrance in infants and young children, are also highlighted in this review. (medlink.com)
The common embryonal brain tumor medulloblastoma and the rare atypical rhabdoid teratoid tumor are well-defined entities in terms of their histopathological features, immunophenotype, and genetic profiles, as are other brain tumors occurring in this age range, including choroid plexus tumors and infant gliomas, and they are discussed in separate articles. (medlink.com)
Rare embryonal tumors may be congenital and can arise along the neuraxis. (medlink.com)
AFP is markedly elevated with endodermal sinus tumors and elevated to a lesser degree with embryonal cell carcinomas. (medscape.com)
Brain tumor1
Another marker of the disease is high expression of LIN28A, which is often identified using immunohistochemistry and is useful for diagnosis, as it is very rarely seen in other brain tumor entities. (wikipedia.org)
Congenital1
Brain tumors may be congenital in children younger than 3 years of age and range from benign complex lesions to highly malignant neoplasms. (medlink.com)
Evaluation of prevalence and outcomes of serial tyrosine kinase inhibitor use in pediatric patients with advanced solid tumors. (dana-farber.org)
BACKGROUND: Malignant rhabdoid tumor of the kidney (RTK) is a rare and highly aggressive pediatric malignancy. (bvsalud.org)
Gliomas1
Although the polar spongioblastoma has historically been considered to be of primitive glial origin, the evidence of the polar spongioblastoma's very existence is questionable and is thought to be more akin to a growth pattern than a specific histologic type that may occur in either gliomas or tumors of neuronal origin. (medscape.com)
Rhabdoid1
PURPOSE: Report relevance of molecular groups to clinicopathologic features, germline SMARCB1/SMARCA4 alterations (GLA), and survival of children with atypical teratoid rhabdoid tumor (ATRT) treated in two multi-institutional clinical trials. (bvsalud.org)
Pineal4
They can present as large tumors occupying contiguous cerebral lobes or as primary pineal, brainstem, or spinal cord tumors. (medlink.com)
Pineal parenchymal cell tumor markers are less well characterized than their germ cell counterparts and include melatonin and the S antigen. (medscape.com)
Neither of these proteins has proven valuable in the diagnosis of pineal parenchymal cell tumors. (medscape.com)
Calcium may be present in either pineal cell tumors or astrocytomas. (medscape.com)
Brainstem1
Of clinical importance is the occurrence of these tumors in the brainstem, where they may be mistaken for a diffusely infiltrating fibrillary astrocytomas. (medscape.com)
Astrocytomas3
Astrocytomas are represented by a wide variety of histologic forms and grades of tumors with a common histologic lineage. (medscape.com)
Tumors classified as astrocytomas can be further subdivided into the diffusely infiltrative astrocytomas, as well as the expansile, or circumscribed, astrocytomas. (medscape.com)
Pilocytic astrocytomas are slow growing tumors with an expansile growth pattern and little propensity to disseminate resulting, overall, in an excellent prognosis, as represented in the WHO grade (grade I). These tumors primarily arise in children and young adults but may remain asymptomatic until later in life. (medscape.com)
Methylation2
Clustering those tumors based on gene expression or DNA methylation profiling reveals they are not molecularly distinct from CN19MC-amplified ETMRs, and often have alterations in other miRNA genes or in miRNA-processing cellular machinery, such as DICER1. (wikipedia.org)
Molecular groups ATRT-MYC (MYC), ATRT-SHH (SHH), and ATRT-TYR (TYR) were determined from tumor DNA methylation profiles. (bvsalud.org)
Lesions1
Pilocytic astrocytoma is the most common intracranial tumor in patients with neurofibromatosis type I , and these lesions are largely confined to the optic nerve. (medscape.com)
Malignancy1
Irregular tumor borders can be suggestive of tumor invasiveness and associated histologic malignancy. (medscape.com)
Histologic1
Tumors of a controversial nature and, therefore, not discussed in this article include the astroblastoma that is now best considered to be of uncertain histologic origin with ultrastructural features of tanycytes. (medscape.com)
70 ). The term sPNET is now obsolete and was removed from the WHO 2016 Classification of CNS tumors, thanks to an increased understanding of the heterogeneity and biology of these tumors and the emergence of a classification based on molecular characteristics. (medlink.com)
Comprise2
Molecular analysis of these tumors revealed that these tumors all shared many molecular features and thus comprise a single, molecularly-defined entity. (wikipedia.org)
Although uncommon in children younger than 2 years of age, primary CNS tumors at this age comprise almost 15% of all childhood brain tumors. (medlink.com)
Diagnostic1
As with radiologic studies, these results can be suggestive of tumor type but only occasionally provide the physician diagnostic information. (medscape.com)
Classification1
This shakeup of the classification (expanded upon from the revised fourth edition, published in 2016) is due to an ongoing effort to better define tumors along their molecular features. (wikipedia.org)
Patients1
Although recent studies suggest a less favorable prognosis for patients with germinomas secreting bhCG, no established prognostic significance of tumor markers exists. (medscape.com)
Type1
Although the type of tumor cannot be determined reliably from the radiographic characteristics alone, some patterns are associated with specific tumors. (medscape.com)
Evaluation1
Measurements of serum and CSF tumor markers are a valuable component of the preoperative evaluation. (medscape.com)
Large1
however, surgery of a large tumor at a young age is associated with a high risk of complications. (wikipedia.org)
Specific1
[ 8 ] The tumors most frequently affect persons in the first 2 decades of life when the age-specific incidence rises to 0.70 per 100,000 persons per year. (medscape.com)
Addition1
In addition, certain tumor locations preclude complete resection. (wikipedia.org)
Expression1
Significant variability in expression of tumor markers is such that the absence of AFP or bhCG does not rule out a mixed germ cell tumor. (medscape.com)
Main1
The main molecular characteristic of this tumor is amplification of the C19MC microRNA cluster, which is one of the largest miRNA clusters in the human genome, encoding 59 mature miRNAs expressed commonly in the placenta and in some embryonic stem cells. (wikipedia.org)
Analysis1
Correlation analysis between the risk score of our model and tumor-infiltrating cell were also investigated. (bvsalud.org)