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Items: 1 to 20 of 31

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.

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
3.

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
4.

Tretinoin

A naturally-occurring acid of retinol. Tretinoin binds to and activates retinoic acid receptors (RARs), thereby inducing changes in gene expression that lead to cell differentiation, decreased cell proliferation, and inhibition of tumorigenesis. This agent also inhibits telomerase, resulting in telomere shortening and eventual apoptosis of some tumor cell types. The oral form of tretinoin has teratogenic and embryotoxic properties. [from NCI]

MedGen UID:
21254
Concept ID:
C0040845
Hazardous or Poisonous Substance; Organic Chemical; Pharmacologic Substance
5.

Tyrosine

A non-essential amino acid. In animals it is synthesized from PHENYLALANINE. It is also the precursor of EPINEPHRINE; THYROID HORMONES; and melanin. [from MeSH]

MedGen UID:
21746
Concept ID:
C0041485
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
6.

Process

MedGen UID:
923307
Concept ID:
C1951340
Pharmacologic Substance
7.

Rapidly involuting congenital hemangioma

MedGen UID:
698687
Concept ID:
C1275421
Neoplastic Process
8.

Neuroblastic tumors

A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells. [from NCI]

MedGen UID:
233228
Concept ID:
C1334953
Neoplastic Process
9.

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
10.

Cancer, Embryonal

MedGen UID:
199639
Concept ID:
C0751364
Neoplastic Process
11.

Ependymoastrocytoma

MedGen UID:
155907
Concept ID:
C0751677
Neoplastic Process
12.

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
13.

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
14.

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
15.

Spongioblastoma [obs]

MedGen UID:
137785
Concept ID:
C0334584
Neoplastic Process
16.

Retin-A

MedGen UID:
109266
Concept ID:
C0593762
Organic Chemical; Pharmacologic Substance
17.

Vesanoid

MedGen UID:
108874
Concept ID:
C0595126
Organic Chemical; Pharmacologic Substance
18.

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
19.

Retinol

The fat soluble vitamin retinol. Vitamin A binds to and activates retinoid receptors (RARs), thereby inducing cell differentiation and apoptosis of some cancer cell types and inhibiting carcinogenesis. Vitamin A plays an essential role in many physiologic processes, including proper functioning of the retina, growth and differentiation of target tissues, proper functioning of the reproductive organs, and modulation of immune function. [from NCI]

MedGen UID:
88691
Concept ID:
C0087161
Organic Chemical; Pharmacologic Substance; Vitamin
20.

Medulloepithelioma

A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal. [from HPO]

MedGen UID:
87272
Concept ID:
C0334596
Neoplastic Process
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