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MedGen for PubMed (Select 1906368)

Items: 3

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 GeneReviews]

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
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