title: SLC44A1-PRKCA fusion in papillary and rosette-forming glioneuronal tumors.
abstract: We investigated the fused protein of solute carrier family 44 choline transporter member 1 (SLC44A1) and protein kinase C alpha (PRKCA) in three patients with papillary glioneuronal tumors (PGNT). PGNT and rosette-forming glioneuronal tumors (RGNT) are recently identified, unusual glioneuronal tumor variants which were categorized as novel tumor entities in the 2007 World Health Organization classification system. The molecular background of these tumors remains poorly understood due to the paucity of studies. The SLC44A1-PRKCA fusion was recently detected in three cases of PGNT. We invesitgated for the SLC44A1-PRKCA fusion protein in the three PGNT patients and a further two with RGNT using fluorescence in situ hybridization. Two out of the three PGNT patients had a fused signal (paired red-green signal) representing a rearrangement on chromosomes 9 and 17. A normal signal pattern was observed in the third PGNT patient. Neither of the two RGNT patients demonstrated a fused signal. This suggests that the SLC44A1-PRKCA fusion is a characteristic alteration in PGNT but not RGNT. Therefore, it is a potential biomarker of PGNT. The paired red-green signal that was observed in the PGNT patients implies the presence of a different breakpoint than that previously reported in the 9q31 and 17q24 genes.
authors.affiliation: Department of Neurosurgery, Dokkyo Medical University Koshigaya Hospital, 2-1-50 Minami-Koshigaya, Koshigaya-shi, Saitama 343-8555, Japan; Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi-shi, Gunma, Japan. Electronic address: nagaishi-nsu@umin.ac.jp.
authors.forename: Masaya
authors.initials: M
authors.lastname: Nagaishi
authors.affiliation: Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi-shi, Gunma, Japan.
authors.forename: Sumihito
authors.initials: S
authors.lastname: Nobusawa
authors.affiliation: Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi-shi, Gunma, Japan.
authors.forename: Nozomi
authors.initials: N
authors.lastname: Matsumura
authors.affiliation: Department of Diagnostic Pathology, Kyoto University Hospital, Mibu, Nakagyo-ku, Kyoto, Japan.
authors.forename: Fumihiko
authors.initials: F
authors.lastname: Kono
authors.affiliation: Department of Neurosurgery, University of the Ryukyus Graduate School of Medicine, Nishihara-cho, Okinawa, Japan.
authors.forename: Shogo
authors.initials: S
authors.lastname: Ishiuchi
authors.affiliation: Department of Neurosurgery, Oita University School of Medicine, Hasama-machi, Yufu-shi, Oita, Japan.
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Abe
authors.affiliation: Department of Neurosurgery, Koshigaya Municipal Hospital, Koshigaya-shi, Saitama, Japan.
authors.forename: Michimasa
authors.initials: M
authors.lastname: Ebato
authors.affiliation: Department of Neuropathology, Institute of Neurology and Huashan Hospital of Fudan University, Shanghai, China.
authors.forename: Yin
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Neurosurgery, Dokkyo Medical University Koshigaya Hospital, 2-1-50 Minami-Koshigaya, Koshigaya-shi, Saitama 343-8555, Japan.
authors.forename: Akio
authors.initials: A
authors.lastname: Hyodo
authors.affiliation: Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi-shi, Gunma, Japan.
authors.forename: Hideaki
authors.initials: H
authors.lastname: Yokoo
authors.affiliation: Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi-shi, Gunma, Japan.
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Nakazato
mesh_terms: D015703:Antigens, CD / Q000235:genetics / Q000378:metabolism*; D014408:Biomarkers, Tumor / Q000235:genetics / Q000378:metabolism*; D001932:Brain Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D018302:Neoplasms, Neuroepithelial / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism*; D027701:Organic Cation Transport Proteins / Q000235:genetics / Q000378:metabolism*; D051571:Protein Kinase C-alpha / Q000235:genetics / Q000378:metabolism*; D012397:Rosette Formation
chemical_list: D015703:Antigens, CD; D014408:Biomarkers, Tumor; D027701:Organic Cation Transport Proteins; C510732:SLC44A1 protein, human; C496628:PRKCA protein, human; D051571:Protein Kinase C-alpha
keywords: Fluorescence in situ hybridization; Papillary glioneuronal tumor; Rosette-forming glioneuronal tumor; SLC44A–PRKCA fusion