The NF1 gene: a frequent mutational target in sporadic pheochromocytomas and beyond.

Abstract:

: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.

journal_name

Endocr Relat Cancer

journal_title

Endocrine-related cancer

authors

Welander J,Söderkvist P,Gimm O

doi

10.1530/ERC-13-0046

subject

Has Abstract

pub_date

2013-07-04 00:00:00

pages

C13-7

issue

4

eissn

1351-0088

issn

1479-6821

pii

ERC-13-0046

journal_volume

20

pub_type

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