title: HMGA2 expression pattern and TERT mutations in tumors of the vulva.
abstract: Malignant tumors of the vulva account for only 5% of cancers of the female genital tract in the USA. The most frequent cancers of the vulva are squamous cell carcinoma (SCC) and malignant melanoma (MM). Little is known about the genetic aberrations carried by these tumors. We report a detailed study of 25 vulva tumors [22 SCC, 2 MM, 1 atypical squamous cell hyperplasia (AH)] analyzed for expression of the high-mobility group AT-hook family member genes HMGA2 and HMGA1, for mutations in the IDH1, IDH2 and TERT genes, and for methylation of the MGMT promoter. The RT-PCR and immunohistochemistry analyses showed that HMGA2 was expressed in the great majority of analyzed samples (20 out of 24; SCC as well as MM) but not in the normal controls. HMGA1, on the other hand, was expressed in both tumors and normal tissues. Five of the 24 tumors (all SCC) showed the C228T mutation in the TERT promoter. Our results showed that HMGA2 and TERT may be of importance in the genesis and/or the progression of tumors of the vulva.
authors.affiliation: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
authors.forename: Antonio
authors.initials: A
authors.lastname: Agostini
authors.affiliation: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
authors.forename: Ioannis
authors.initials: I
authors.lastname: Panagopoulos
authors.affiliation: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
authors.forename: Hege Kilen
authors.initials: HK
authors.lastname: Andersen
authors.affiliation: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
authors.forename: Lene Elisabeth
authors.initials: LE
authors.lastname: Johannesen
authors.affiliation: Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
authors.forename: Ben
authors.initials: B
authors.lastname: Davidson
authors.affiliation: Department of Gynecology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
authors.forename: Claes Göran
authors.initials: CG
authors.lastname: Tropé
authors.affiliation: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
authors.forename: Sverre
authors.initials: S
authors.lastname: Heim
authors.affiliation: Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
authors.forename: Francesca
authors.initials: F
authors.lastname: Micci
mesh_terms: D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000473:pathology; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D025741:HMGA1a Protein / Q000096:biosynthesis / Q000235:genetics; D025743:HMGA2 Protein / Q000096:biosynthesis / Q000235:genetics*; D006801:Humans; D007521:Isocitrate Dehydrogenase / Q000235:genetics; D008545:Melanoma / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D011401:Promoter Regions, Genetic; D012878:Skin Neoplasms; D019098:Telomerase / Q000096:biosynthesis / Q000235:genetics*; D014846:Vulvar Neoplasms / Q000235:genetics* / Q000473:pathology; D000096142:Cutaneous Malignant Melanoma
chemical_list: D025743:HMGA2 Protein; D025741:HMGA1a Protein; C538784:IDH2 protein, human; D007521:Isocitrate Dehydrogenase; C543588:IDH1 protein, human; C509186:TERT protein, human; D019098:Telomerase
references.citation: Am J Pathol. 1996 Sep;149(3):775-9
references.pmid: 8780382
references.citation: Curr Opin Genet Dev. 2014 Feb;24:30-7
references.pmid: 24657534
references.citation: Genes Chromosomes Cancer. 2003 Oct;38(2):137-48
references.pmid: 12939741
references.citation: Bioessays. 2002 Mar;24(3):255-66
references.pmid: 11891762
references.citation: J Hum Genet. 2001;46(7):408-12
references.pmid: 11450849
references.citation: Genes Chromosomes Cancer. 2013 Jun;52(6):551-63
references.pmid: 23404381
references.citation: Neuro Oncol. 2014 Jan;16(2):320-2
references.pmid: 24311631
references.citation: Proc Natl Acad Sci U S A. 2013 Apr 9;110(15):6021-6
references.pmid: 23530248
references.citation: CA Cancer J Clin. 2013 Jan;63(1):11-30
references.pmid: 23335087
references.citation: J Am Acad Dermatol. 2012 Oct;67(4):598-605
references.pmid: 22243767
references.citation: Br J Haematol. 2012 Jun;157(6):769-71
references.pmid: 22404713
references.citation: Virchows Arch. 2012 May;460(5):505-13
references.pmid: 22476403
references.citation: J Transl Med. 2012;10:36
references.pmid: 22390413
references.citation: J Mol Diagn. 2011 Nov;13(6):678-86
references.pmid: 21889610
references.citation: J Clin Oncol. 2010 May 10;28(14):2356-64
references.pmid: 20368538
references.citation: Genes Chromosomes Cancer. 1999 Oct;26(2):125-33
references.pmid: 10469450
references.citation: Cancer Genet Cytogenet. 1999 May;111(1):87-91
references.pmid: 10326597
references.citation: Cancer Res. 1999 Feb 15;59(4):793-7
references.pmid: 10029064
references.citation: Cancer Genet Cytogenet. 1997 Jun;95(2):198-205
references.pmid: 9169041
references.citation: Oncogene. 1996 Dec 5;13(11):2439-46
references.pmid: 8957086
references.citation: Nat Genet. 1995 Aug;10(4):436-44
references.pmid: 7670494