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Items: 1 to 20 of 37

1.

Neuroblastoma

ALK-related neuroblastic tumor susceptibility results from heterozygosity for a germline ALK activating pathogenic variant in the tyrosine kinase domain that predisposes to neuroblastic tumors. The spectrum of neuroblastic tumors includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. Neuroblastoma is a more malignant tumor and ganglioneuroma a more benign tumor. Depending on the histologic findings ganglioneuroblastoma can behave in a more aggressive fashion, like neuroblastoma, or in a benign fashion, like ganglioneuroma. At present there are no data regarding the lifetime risk to an individual with a germline ALK pathogenic variant of developing a neuroblastic tumor. Preliminary data from the ten reported families with ALK-related neuroblastic tumor susceptibility suggest that the overall penetrance is around 57% with the risk for neuroblastic tumor development highest in infancy and decreasing by late childhood. [from GTR]

MedGen UID:
18012
Concept ID:
C0027819
Neoplastic Process
2.

Down-regulation

A negative regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins. [from MeSH]

MedGen UID:
4386
Concept ID:
C0013081
Molecular Function
3.

Brain neoplasm

MedGen UID:
910838
Concept ID:
CN241425
Finding
4.

Neuroblastoma

Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children. [from ORDO]

MedGen UID:
798120
Concept ID:
CN205405
Disease or Syndrome
5.

Neuroblastoma

Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum. [from HPO]

MedGen UID:
505432
Concept ID:
CN002717
Finding
6.

Neoplasm

A malignant tumor at the original site of growth. [from NCI]

MedGen UID:
227011
Concept ID:
C1306459
Neoplastic Process
7.

Neoplasm of brain

A benign or malignant neoplasm that arises from or metastasizes to the brain. [from HPO]

MedGen UID:
14216
Concept ID:
C0006118
Neoplastic Process
8.

Atypical teratoid rhabdoid tumor

Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT; see this term) found almost exclusively in children. [from ORDO]

MedGen UID:
798196
Concept ID:
CN207484
Disease or Syndrome
9.

Instability

MedGen UID:
731956
Concept ID:
C1444783
Finding
10.

Prolonged

Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection). [from HPO]

MedGen UID:
615082
Concept ID:
C0439590
Temporal Concept
11.

Intracranial Neoplasm

A benign or malignant neoplasm that arises from or metastasizes to structures within the cranium. This includes meningeal and other tumors that occur in the spaces that surround the brain, and neoplasms of the brain. [from NCI]

MedGen UID:
287152
Concept ID:
C1527390
Neoplastic Process
12.

Epithelial Neoplasm

A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. [from NCI]

MedGen UID:
277963
Concept ID:
C1368683
Neoplastic Process
13.

Cancer, Embryonal

MedGen UID:
199639
Concept ID:
C0751364
Neoplastic Process
14.

Ependymoastrocytoma

MedGen UID:
155907
Concept ID:
C0751677
Neoplastic Process
15.

Polar Spongioblastoma

A lesion characterized by the presence of neoplastic neuroepithelial cells with palisading nuclei. This lesion implies a morphologic growth pattern and it is not considered a clinicopathological entity. [from NCI]

MedGen UID:
154309
Concept ID:
C0555199
Neoplastic Process
16.

Ependymoblastoma

A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system. [from HPO]

MedGen UID:
152150
Concept ID:
C0700367
Neoplastic Process
17.

Peripheral neuroepithelioma

The Ewing sarcoma family of tumors (primitive neuroectodermal tumors; PNET) comprise morphologically heterogeneous tumors that are characterized by nonrandom chromosomal translocations involving the EWS gene on chromosome 22q12 and one of several members of the ETS family of transcription factors. The tumors include Ewing sarcoma, peripheral neuroepithelioma, and Askin tumor. In approximately 90% of cases of ESFT, the FLI1 gene (193067) on chromosome 11 is the fusion partner of EWS; in approximately 10%, the EWS fusion partner is the ERG gene (165080) on chromosome 22. Many other ETS family members have been identified as fusion partners of EWS, but these cases are rare (Khoury, 2005). [from GTR]

MedGen UID:
151926
Concept ID:
C0684337
Neoplastic Process
18.

Spongioblastoma [obs]

MedGen UID:
137785
Concept ID:
C0334584
Neoplastic Process
19.

Astroblastoma

A rare glial neoplasm more commonly found in young adults. It is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly. The cells have broad, non-tapering processes radiating towards a central blood vessel. The biologic behavior of astroblastomas is variable, so no WHO grade has been established, yet. (Adapted from WHO.) [from NCI]

MedGen UID:
90811
Concept ID:
C0334587
Neoplastic Process
20.

Neoplasm of the central nervous system

A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia. [from NCI]

MedGen UID:
88335
Concept ID:
C0085136
Neoplastic Process
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