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Items: 8

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.

Malignant melanoma

A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445) [from MeSH]

MedGen UID:
9944
Concept ID:
C0025202
Neoplastic Process
3.

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
4.

Epithelioma, malignant

MedGen UID:
639977
Concept ID:
C0553707
Neoplastic Process
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.

Melanoma

The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). [from HPO]

MedGen UID:
505377
Concept ID:
CN002586
Finding
7.

Monoclonal Antibody 3F8

A murine monoclonal antibody directed against the cell-surface, tumor-associated antigen ganglioside GD2. Vaccination with monoclonal antibody 3F8 may stimulate a host cytotoxic immune response against tumors that express ganglioside GD2. (NCI04) [from NCI]

MedGen UID:
79200
Concept ID:
C0280849
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
8.

Ganglioside

A subclass of ACIDIC GLYCOSPHINGOLIPIDS. They contain one or more sialic acid (N-ACETYLNEURAMINIC ACID) residues. Using the Svennerholm system of abbrevations, gangliosides are designated G for ganglioside, plus subscript M, D, or T for mono-, di-, or trisialo, respectively, the subscript letter being followed by a subscript arabic numeral to indicated sequence of migration in thin-layer chromatograms. (From Oxford Dictionary of Biochemistry and Molecular Biology, 1997) [from MeSH]

MedGen UID:
4832
Concept ID:
C0017082
Organic Chemical; Pharmacologic Substance
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