Editorial Material: The NF1 gene: a frequent mutational target in sporadic pheochromocytomas and beyond
2013 (English)In: Endocrine-Related Cancer, ISSN 1351-0088, Vol. 20, no 4, C13-C17 p.Article in journal, Editorial material (Other academic) Published
Patients suffering from the neurofibromatosis type 1 syndrome, which is caused by germline mutations in the NF1 gene, have a tiny but not negligible risk of developing pheochromocytomas. It is, therefore, of interest that the NF1 gene has recently been revealed to carry somatic, inactivating mutations in a total of 35 (21.7%) of 161 sporadic pheochromocytomas in two independent tumor series. A majority of the tumors in both studies displayed loss of heterozygosity at the NF1 locus and a low NF1 mRNA expression. In view of previous findings that many sporadic pheochromocytomas cluster with neurofibromatosis type 1 syndrome-associated pheochromocytomas instead of forming clusters of their own, NF1 inactivation appears to be an important step in the pathogenesis of a large number of sporadic pheochromocytomas. A literature and public mutation database review has revealed that pheochromocytomas are among those human neoplasms in which somatic NF1 alterations are most frequent.
Place, publisher, year, edition, pages
BioScientifica , 2013. Vol. 20, no 4, C13-C17 p.
NF1, pheochromocytomas, molecular genetics, somatic mutations, sporadic tumors
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:liu:diva-97668DOI: 10.1530/ERC-13-0046ISI: 000323550100002OAI: oai:DiVA.org:liu-97668DiVA: diva2:649978