AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesDisciplines and OccupationsInformation ScienceNamed GroupsHealth Care
Neuroectodermal Tumors, PrimitiveNeuroectodermal TumorsNeuroectodermal Tumors, Primitive, PeripheralNeuroectodermal Tumor, MelanoticSarcoma, EwingMedulloblastomaCerebellar NeoplasmsBrain NeoplasmsSupratentorial NeoplasmsProto-Oncogene Protein c-fli-1RNA-Binding Protein EWSPinealomaTumor Markers, BiologicalChromosomes, Human, Pair 22EpendymomaBone NeoplasmsRhabdoid TumorSpinal Cord NeoplasmsNeuroblastomaSarcoma, Small CellMaxillary NeoplasmsCell Line, TumorTumor BurdenTumor Necrosis Factor-alphaNeoplasms, Germ Cell and EmbryonalThoracic NeoplasmsCentral Nervous System NeoplasmsImmunohistochemistryAstrocytomaChromosomes, Human, Pair 11Tomography, X-Ray ComputedWilms TumorOncogene Proteins, FusionNeural PlateOrbital NeoplasmsFatal OutcomeNeoplasms, ExperimentalGenes, Tumor SuppressorAntigens, NeoplasmVincristineIfosfamideGliomaSkull NeoplasmsCarcinoid TumorDNA, NeoplasmTumor Suppressor Protein p53Translocation, GeneticCombined Modality TherapyTeratomaMagnetic Resonance ImagingGanglioneuromaThoracic WallParaparesisNeuroendocrine TumorsNeoplasms, Nerve TissueRhabdomyosarcomaNeoplasm ProteinsTumor Suppressor ProteinsCell DivisionReverse Transcriptase Polymerase Chain ReactionRNA, MessengerCell Transformation, NeoplasticTreatment OutcomeEtoposideTumor MicroenvironmentRetinoblastomaChromosomes, Human, Pair 17Soft Tissue NeoplasmsPeripheral Nervous System NeoplasmsPineal GlandAntibodies, MonoclonalNeoplasm Recurrence, LocalNeoplasmsCyclophosphamideMammary Neoplasms, ExperimentalAbdominal NeoplasmsAntineoplastic Combined Chemotherapy ProtocolsIn Situ Hybridization, FluorescencePolymerase Chain ReactionCranial IrradiationNeurofilament ProteinsNeoplasm MetastasisThoracic Surgical ProceduresDisease ProgressionGenes, mycImmunoenzyme TechniquesNeovascularization, PathologicTumor Cells, CulturedInfant, NewbornMolecular Sequence DataGene Expression Regulation, NeoplasticTranscription FactorsPhosphopyruvate HydrataseGangliosidesTime FactorsBase SequenceLomustineCell ProliferationCell DifferentiationCell Line
MNTINeuroblastomaRetinal anlage tumorMalignantPrimitiveEpithelialMetastaticMNTIsNeoplasmPrognosisBenignPediatricNeural crest originRosettesInfantRecurrentImmunohistochemistryMedulloblastomaDisseminationCase reportMutationsLeukemiaCraniofacialOralConsistentTissuesChildhoodTendRareBrainApproximatelyDiameterGeneSectionsLiteraturePatientsCellChildren
MNTI13
  • Melanotic neuroectodermal tumor of infancy (MNTI) is a relatively uncommon osteolytic-pigmented neoplasm that primarily affects the jaws of newborn infants. (medscape.com)
  • Several patients with melanotic neuroectodermal tumor of infancy (MNTI) have demonstrated a high urinary excretion of VMA. (medscape.com)
  • Melanotic neuroectodermal tumor of infancy (MNTI) is a rare neoplasm and approximately 485 cases have been reported in the literature to date worldwide. (medscape.com)
  • Melanotic neuroectodermal tumor of infancy (MNTI) has a slight male predilection, with a male-to-female ratio of 1.3:1. (medscape.com)
  • [ 14 ] A few cases of melanotic neuroectodermal tumor of infancy (MNTI) have been reported in adults, notably, a 23-year-old man, a 39-year-old woman, and a 67-year-old woman. (medscape.com)
  • A comprehensive systematic review of 472 cases of MNTI found that age at diagnosis is an important prognostic indicator in these tumors. (medscape.com)
  • Consider clinical, radiographic, laboratory, and histologic findings when establishing a proper differential diagnosis for melanotic neuroectodermal tumor of infancy (MNTI). (medscape.com)
  • The histologic appearance of MNTI is usually that of a small, dark, cell neoplasm suggestive of neuroblastoma, rhabdomyosarcoma, Ewing sarcoma, lymphoma, desmoplastic small round cell tumor, and peripheral primitive neuroectodermal tumor. (medscape.com)
  • The identification of this second cell population helps differentiate MNTI from other small, round, blue cell tumors. (medscape.com)
  • Melanotic neuroectodermal tumour of infancy (MNTI), first reported by Krompecher in 1918, is an uncommon pigmented tumour affecting predominantly the craniofacial bones of the newborn infants 1. (journalcra.com)
  • BACKGROUND: Melanotic neuroectodermal tumor of infancy (MNTI) is exceptionally rare and occurs predominantly in the head and neck (92.8 % cases). (ox.ac.uk)
  • CONCLUSIONS: In the absence of somatic copy number variations or mutations, the fully transformed phenotype of the MNTI may have arisen in infancy because of the combined effects of a germline CDKN2A mutation, tumor promoting somatic fusion genes and epigenetic deregulation. (ox.ac.uk)
  • Very little is known about the etiology of MNTI and this report advances knowledge of these rare tumors by providing the first comprehensive genomic, transcriptomic and epigenetic characterization of a case. (ox.ac.uk)
Neuroblastoma5
  • The differential diagnosis of a malignant effusion is accordingly broad, especially for the small round blue cell tumors that includes not only mesenchymal tumors, but also non-mesenchymal tumors, such as neuroblastoma and Wilms tumor. (cytojournal.com)
  • Other rare non-epithelial malignancies that may be encountered in effusion cytology include neuroblastoma, Wilms tumor, and metastatic brain tumors. (cytojournal.com)
  • Vanillylmandelic acid (VMA), a metabolic by-product of norepinephrine and epinephrine, can be used to detect neuroblastoma and other tumors of neural crest origin. (medscape.com)
  • Elevated metabolic by-products of catecholamines-dihydroxyphenylalanine (DOPA), dopamine, norepinephrine, and epinephrine-can be detected in the urine of patients with neuroblastoma and other tumors of neural crest origin. (medscape.com)
  • Ninety percent of neuroblastoma tumors secrete these by-products. (medscape.com)
Retinal anlage tumor1
  • Some of the terms applied to this lesion included pigmented ameloblastoma, retinal anlage tumor, melanotic progonoma, melanotic adamantinoma, and pigmented epulis of infancy. (medscape.com)
Malignant3
  • While most tumors metastatic to the serous membranes are of epithelial origin, cytologists should be aware that non-epithelial neoplasms can also cause malignant effusions including sarcomas, melanomas, germ cell tumors, and, more rarely, brain tumors. (cytojournal.com)
  • Common non-epithelial neoplasms that may cause malignant effusions include malignant melanoma, sarcomas, and other neoplasms including germ cell tumors [ Figure 1 ]. (cytojournal.com)
  • Infratentorial primitive neuroectodermal tumor that is, by definition, malignant and invasive and thus classified as Grave IV by the WHO. (uchicago.edu)
Primitive1
  • It is important in this age group to exclude other tumors that can have a similar appearance, such as rhabdomyosarcoma, lymphoma, Ewing sarcoma (primitive neuroectodermal tumor), or even a melanoma (although they are very very rare in infants). (wikipedia.org)
Epithelial5
  • The same age differential is noted with respect to the more common odontogenic tumors (eg, ameloblastoma, odontoma, adenomatoid odontogenic tumor, calcifying epithelial odontogenic tumor, ameloblastic fibroma, odontogenic myxoma, odontogenic fibroma). (medscape.com)
  • According to Krompecher, this tumor derives from epithelial nests evolved at the time of embryonic fusion of the facial processes. (journalcra.com)
  • Diagnosing non-epithelial malignancies in effusion specimens based entirely upon their cytomorphologic features is difficult because these neoplasms often exhibit considerable morphological overlap and their cytomorphology can differ from the original tumor. (cytojournal.com)
  • Most tumors metastatic to the serous membranes are of epithelial origin. (cytojournal.com)
  • The classification of epithelial tumors of the kidney has in particular undergone substantial progress in the last two decades with major contributions from genetic typing of renal cell carcinomas (RCCs). (abdominalkey.com)
Metastatic1
  • 1.5 cm diameter) residual tumor by postoperatively imaging, and no evidence of metastatic spread within the neuraxis. (uchicago.edu)
MNTIs1
Neoplasm2
  • Melanotic neuroectodermal tumor of infancy--a neoplasm of neural crese origin. (medscape.com)
  • Melanotic neuroectodermal tumor of infancy is a rare neoplasm of possibly neural crest origin, and it predominantly occurs in the premaxillas of infants less than 12 months old. (smu.ac.za)
Prognosis1
  • A low ratio of vanillylmandelic acid to HVA is consistent with a poorly differentiated tumor and indicates a poor prognosis. (medscape.com)
Benign1
  • Even though there is often a very dramatic and rapidly enlarging, destructive tumor, there is usually a benign clinical course after complete local excision (usually by partial maxillectomy) with clear or free surgical margins. (wikipedia.org)
Pediatric4
  • He completed fellowships in these areas at the University of Illinois at Chicago and the University of South Florida - one of the largest skull-base referral centers in the U.S. Carlson is certified in all areas of general adult and pediatric neurosurgery, with a particular focus on complex cranial disease, including aneurysms, arteriovenous malformations, stroke treatment and prevention, trigeminal neuralgia and brain tumors, such as meningiomas, vestibular schwannomas and gliomas. (unm.edu)
  • Melanotic neuroectodermal tumor of infancy: A rare pediatric head and neck lesion. (unm.edu)
  • The first section will cover those tumors that characteristically are associated with the pediatric population. (abdominalkey.com)
  • Medulloblatoma is the most common posterior fossa (i.e. infratentorial) tumor in children (although some sources will state that it is the second most common behind cerebellar astrocytoma), making up approximately 18% of all primary pediatric brain tumors. (uchicago.edu)
Neural crest origin2
  • In 1966, Borello and Gorlin reported a case with high urinary excretion of vanillylmandelic acid (VMA), suggesting a neural crest origin, and they proposed the term melanotic neuroectodermal tumor of infancy. (medscape.com)
  • [ 6 ] Since then, numerous histochemical, immunohistochemical, electron microscopic, and tissue culture studies have supported the neural crest origin and confirmed the preferred term of melanotic neuroectodermal tumor of infancy. (medscape.com)
Rosettes1
  • Multiple chromosomal translocations were identified by RNA-Seq, and fusion genes included RPLP1-C19MC, potentially deregulating the C19MC cluster, an imprinted locus containing microRNA genes reactivated by gene fusion in embryonal tumors with multilayered rosettes. (ox.ac.uk)
Infant1
  • Infant, 4 months, male, tumor in the left maxilla, was referred to the Odontology section for a palatal obturator confection with maxillary projection. (bvsalud.org)
Recurrent2
  • In rare cases, chemotherapy may be used for recurrent or residual tumors. (wikipedia.org)
  • [ 13 ] Unfortunately, reports have shown that recurrent tumors tend to behave more aggressively and involve other anatomic structures such as the orbit and skull base. (medscape.com)
Immunohistochemistry1
  • The role of genotyping and ancillary tools, in particular immunohistochemistry, in correctly classifying these tumors is highlighted in the section on Renal Cell Carcinoma. (abdominalkey.com)
Medulloblastoma2
  • 1 - 3 Intracranial brain tumors, most commonly medulloblastoma [ Figure 2 ], can metastasize to the peritoneal cavity via ventriculo-peritoneal shunts used to divert excess cerebrospinal fluid. (cytojournal.com)
  • Medulloblastoma is a highly radiosensitive tumor. (uchicago.edu)
Dissemination1
  • Depends on the size, subtype, and dissemination of the tumor at the time of diagnosis. (uchicago.edu)
Case report2
  • A germline mutation of CDKN2A and a novel RPLP1-C19MC fusion detected in a rare melanotic neuroectodermal tumor of infancy: a case report. (ox.ac.uk)
  • Diagnostic cytologic features of an epididymal melanotic neuroectodermal tumor of infancy present in scrotal fluid: a case report. (umassmed.edu)
Mutations2
  • Whole-exome analysis of genomic DNA from both the tumor and blood indicated no somatic, non-synonymous coding mutations within the tumor, but a heterozygous, unique germline, loss of function mutation in CDKN2A (p16(INK4A), D74A). (ox.ac.uk)
  • The development of Wilms tumor has been linked to mutations of the WT1 and WT2 genes located on chromosome 11 at 11p13 and 11p15.5, respectively ( 8 , 9 ). (abdominalkey.com)
Leukemia1
  • Note: In children, brain tumors are the most common solid tumor and the second most common malignancy (after leukemia). (uchicago.edu)
Craniofacial1
  • Wiedemann-Beckwith syndrome is related to abnormalities on chromosome 11p15 and characterized by multiple craniofacial anomalies, abdominal wall defects, and tumors of the genitourinary tract, liver, adrenal gland, and central nervous system among other abnormalities. (abdominalkey.com)
Oral1
  • Melanotic neuroectodermal tumor of infancy is a very rare oral cavity tumor that is seen in patients usually at or around birth. (wikipedia.org)
Consistent2
  • The radiographic appearance of a maxillary alveolar low-density radiolucency is consistent with any of the odontogenic cysts or tumors. (medscape.com)
  • Consistent with the melanotic phenotype of the tumor, elevated expression of tyrosinase was observed. (ox.ac.uk)
Tissues2
  • Wilms tumor is believed to arise from embryonic tissues called nephrogenic rests that fail to undergo normal involution ( 7 ). (abdominalkey.com)
  • The tumor is usually circumscribed by a pseudocapsule formed of compressed renal and perirenal tissues. (abdominalkey.com)
Childhood4
  • More than 80% of renal tumors of childhood are Wilms tumor (nephroblastoma) ( 1 , 2 ). (abdominalkey.com)
  • Although the mortality rate for children with brain tumors has decreased significantly over the last 40 years, deaths from childhood brain tumors are the highest among all childhood cancer deaths. (uchicago.edu)
  • Long-term sequelae of childhood brain tumors are often from the effects of chemotherapy and/or radiation therapy. (uchicago.edu)
  • 1. Crawford, J. Childhood Brain Tumors. (uchicago.edu)
Tend1
  • Children with dedifferentiated tumors tend to excrete higher levels of HVA than vanillylmandelic acid because these tumors have lost the final enzymatic pathway that converts HVA to vanillylmandelic acid. (medscape.com)
Rare3
Brain2
  • Approximately 60% of brain tumors are infratentorial, 25% are supratentorial, and 15% arise in the midline. (uchicago.edu)
  • There is also significant neurological morbidity associated with brain tumors. (uchicago.edu)
Approximately1
  • Approximately, a few hundred of these tumors have been reported in medical literature. (journalcra.com)
Diameter1
  • Wilms tumor often is greater than 5 cm in diameter, with an average size of 10 cm ( 3 ). (abdominalkey.com)
Gene2
  • SNP-array CGH on DNA samples revealed the tumor to be euploid, with no detectable gene copy number variants. (ox.ac.uk)
  • KCTD11 is a tumor suppressor gene on 17p that inhibits the sonic hedgehog (SHH) signaling pathway, which is important for cellular proliferation and differentiation during cerebellar development. (uchicago.edu)
Sections1
  • Specific discussions of etiology and pathogenesis are dealt with in each of the sections on individual tumors, rather than as a freestanding section, as is used elsewhere in this text. (abdominalkey.com)
Literature2
  • Cutler LS, Chaudhry AP, Topazian R. Melanotic neuroectodermal tumor of infancy: an ultrastructural study, literature review, and reevaluation. (medscape.com)
  • The aim of this paper is to report a dental strategy with a differentiated immediate palatal obturator in a case of melanotic neuroectodermal tumor of infancy, held at the National Cancer Institute José Alencar Gomes da Silva, by performing a literature review and addressing the multidisciplinary treatment as a guarantee of integral care for the patient. (bvsalud.org)
Patients3
  • Most patients, by some estimates more than 90%, present with the tumor in the first year of life, usually from age 1-6 months, with a peak between the second and sixth month of life. (medscape.com)
  • Patients with Beckwith-Wiedemann syndrome and Denys-Drash syndrome have an increased risk of developing Wilms tumor ( 5 , 6 ). (abdominalkey.com)
  • This number is even higher for patients who have tumors with favorable molecular phenotypes. (uchicago.edu)
Cell1
  • Exhaustive genomic, transcriptomic, epigenetic and pathological characterization was performed on the excised primary tumor and a derived cell line. (ox.ac.uk)
Children1