title: The embryonic stem cell factor UTF1 serves as a reliable diagnostic marker for germinomas.
abstract: The transcription factor OCT4 is an established diagnostic marker for central nervous system (CNS) germinoma. However, no data are available to date concerning the expression of its downstream target undifferentiated embryonic cell transcription factor 1 (UTF1) in CNS germ cell tumours. We examined 21 CNS germinomas and two mixed CNS germ cell tumours for UTF1 and the post-transcriptional regulator LIN28 immunohistochemical expression. We compared the profile to established diagnostic germinoma markers and to the expression in six testicular and four metastatic germ cell tumours as well as 150 CNS tumours of various backgrounds. We found UTF1 expression in 23 of 23 and LIN28 in 20 of 23 CNS germ cell tumours. The established germinoma markers cKIT (23/23), OCT4 (21/23) and placental alkaline phosphatase (PLAP) (19/21) were also frequently expressed in our cohort. In terms of signal intensity and frequency, UTF1 showed similar results as cKIT but staining was superior to OCT4, PLAP and LIN28. OCT4 was absent in all CNS metastases and haemangioblastomas, while UTF1 was weakly observed in two metastases.With a sensitivity of 100% and a specificity of 97% in the detection of CNS germinomas, UTF1 serves as a new reliable alternative in the diagnostic setting of CNS germ cell tumours.
authors.affiliation: 1Department of Neuropathology, University of Marburg 2Department of Neuropathology, Edinger Institute (Institute of Neurology), Goethe University, Frankfurt/Main 3Department of Neuropathology, Ruprecht-Karls-University of Heidelberg 4Department of Pathology, Klinikum Stuttgart 5Department of Neuropathology, Institute of Pathology and Neuropathology, Eberhard-Karls-University of Tuebingen, Germany.
authors.forename: Georgios
authors.initials: G
authors.lastname: Pantazis
authors.forename: Patrick N
authors.initials: PN
authors.lastname: Harter
authors.forename: David
authors.initials: D
authors.lastname: Capper
authors.forename: Patricia
authors.initials: P
authors.lastname: Kohlhof
authors.forename: Michel
authors.initials: M
authors.lastname: Mittelbronn
authors.forename: Jens
authors.initials: J
authors.lastname: Schittenhelm
mesh_terms: D000293:Adolescent; D000328:Adult; D014408:Biomarkers, Tumor / Q000378:metabolism*; D001932:Brain Neoplasms / Q000175:diagnosis* / Q000378:metabolism; D016543:Central Nervous System Neoplasms / Q000175:diagnosis* / Q000378:metabolism; D002648:Child; D015331:Cohort Studies; D005260:Female; D018237:Germinoma / Q000175:diagnosis* / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000378:metabolism*; D050814:Octamer Transcription Factor-3 / Q000378:metabolism; D012680:Sensitivity and Specificity; D013736:Testicular Neoplasms / Q000175:diagnosis* / Q000378:metabolism; D015534:Trans-Activators / Q000378:metabolism*; D055815:Young Adult
chemical_list: D014408:Biomarkers, Tumor; D009687:Nuclear Proteins; D050814:Octamer Transcription Factor-3; C494173:POU5F1 protein, human; D015534:Trans-Activators; C484738:UTF1 protein, human