title: Medulloepithelioma with peculiar clinical presentation, stem cell phenotype and aberrant DNA-methylation profile.
abstract: We present a 21-year-old male with a neck mass diagnosed as medulloepithelioma. Despite aggressive chemo- and radio-therapy, the tumor metastasized and proved fatal after seventeen months. The tumor demonstrated robust immunohistochemical expression of multiple markers of embryonic/neural stem cells and embryogenesis from the paraffin embedded tissue. The tumor, expressing LIN28A but negative for the 19q13.42 amplicon, also lacked the characteristic methylation profile for medulloepithelioma and other tumors with similar morphology. The expression of embryonic markers may explain its unresponsiveness to therapy and poor prognosis. Therapies targeted at embryonic cell phenotypes may hold the key for successfully treating cancers with embryonal phenotypes or tumors harboring cells with embryonal phenotypes.
authors.affiliation: Department of Pathology, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
authors.forename: John A
authors.initials: JA
authors.lastname: Ozolek
authors.affiliation: Department of Pediatrics, Division of Hematology/Oncology & Blood & Bone Marrow Transplantation, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
authors.forename: Debra E
authors.initials: DE
authors.lastname: Cohen
authors.affiliation: Division of Pediatric Neurooncology, German Cancer Research Center DKFZ, Heidelberg, Germany.
authors.forename: Marcel
authors.initials: M
authors.lastname: Kool
authors.affiliation: Division of Pediatric Neurooncology, German Cancer Research Center DKFZ, Heidelberg, Germany.|Department of Pediatric Hematology & Oncology, Heidelberg University Hospital, Heidelberg, Germany.
authors.forename: Stefan M
authors.initials: SM
authors.lastname: Pfister
authors.affiliation: Clinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), Heidelberg, Germany.|Department of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany.
authors.forename: Andrey
authors.initials: A
authors.lastname: Korshunov
authors.affiliation: Department of Pediatrics, Division of Hematology/Oncology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Bukowinski
authors.affiliation: Department of Pathology, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
authors.forename: Amy W
authors.initials: AW
authors.lastname: Davis
mesh_terms: D056915:DNA Copy Number Variations; D019175:DNA Methylation; D017809:Fatal Outcome; D006258:Head and Neck Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D014411:Neoplastic Stem Cells / Q000473:pathology*; D018242:Neuroectodermal Tumors, Primitive / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D014057:Tomography, X-Ray Computed; D055815:Young Adult
keywords: DNA methylation; ETMR; LIN28A; embryonic stem cells; medulloepithelioma