Sandbox:patho2: Difference between revisions

Revision as of 22:17, 5 October 2015

Neuroblastoma arises from neural crest cells, which are normally involved in the development of the sympathetic nervous system and adrenal glands.
Neuroblastoma is frequently observed along the sympathetic nervous system structures. Specific sites may include:

Neuroblastoma may demonstrate spontaneous regression from an undifferentiated state to a completely benign cellular state.

MYCN oncogene amplification within the tumor is a common finding in neuroblastoma.

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 ==Genetics==
+* Development of neuroblasotma is the result of multiple genetic mutations.
+* 1-2% of neuroblastoma cases may demonstrate a familial predilection.
+* Genes involved in the pathogenesis of neuroblastoma include:
+:* ''ALK'' gene on chromosome 2
+:* ''PHOX2A'' gene on chromosome 11
-[10bout 1–2% of cases run in families and have been linked to specific gene mutations.
+:* ''KIF1B'' gene on chromosome 1
-Familial neuroblastoma in some cases is caused by rare germline mutations in the anaplastic lymphoma kinase (ALK) gene.[13]
+:* ''LMO1'' gene on chromosome 11
-Germline mutations in the PHOX2A or KIF1B gene have been implicated in familial neuroblastoma as well.
+:* ''NBPF10'' gene chromosome 1
-MYCN oncogene amplification within the tumor is a common finding in neuroblastoma. The degree of amplification shows a bimodal distribution: either 3- to 10-fold, or 100- to 300-fold.
+* MYCN oncogene amplification within the tumor is a common finding in neuroblastoma.
-The presence of this mutation is highly correlated to advanced stages of disease.[14]
-Duplicated segments of the LMO1 gene within neuroblastoma tumor cells have been shown to increase the risk of developing an aggressive form of the cancer.[15]
-Neuroblastoma has been linked to copy-number variation within the NBPF10 gene, which results in the 1q21.1 deletion syndrome or 1q21.1 duplication syndrome.[16]