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The NF1 gene: a frequent mutational target in sporadic pheochromocytomas and beyond
Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Health Sciences.
Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Health Sciences.
Linköping University, Department of Clinical and Experimental Medicine, Division of Clinical Sciences. Linköping University, Faculty of Health Sciences. Östergötlands Läns Landsting, Center for Surgery, Orthopaedics and Cancer Treatment, Department of Surgery in Linköping.
2013 (English)In: Endocrine-Related Cancer, ISSN 1351-0088, E-ISSN 1479-6821, Vol. 20, no 4, C13-C17 p.Article in journal, Editorial material (Other academic) Published
Abstract [en]

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.
Keyword [en]
NF1, pheochromocytomas, molecular genetics, somatic mutations, sporadic tumors
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:liu:diva-97668DOI: 10.1530/ERC-13-0046ISI: 000323550100002OAI: oai:DiVA.org:liu-97668DiVA: diva2:649978
Available from: 2013-09-19 Created: 2013-09-19 Last updated: 2017-12-06

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Welander, JennySöderkvist, PeterGimm, Oliver

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Welander, JennySöderkvist, PeterGimm, Oliver
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Division of Cell BiologyFaculty of Health SciencesDivision of Clinical SciencesDepartment of Surgery in Linköping
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Endocrine-Related Cancer
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