title: Soft tissue perineurioma and other unusual tumors in a patient with neurofibromatosis type 1.
abstract: Perineurioma is a rare benign peripheral nerve sheath tumor featuring perineurial differentiation. Perineurioma occurs sporadically with only one reported case in the setting of neurofibromatosis type 1 (NF-1). We present a 6.7-cm soft tissue perineurioma of the lower leg in a 51-year-old man with proven NF-1. The tumor displayed whorled and fascicular pattern with infiltrative margins and expressed EMA, GLUT-1, claudin-1, and CD34. Electron microscopy confirmed diagnosis. Furthermore, lipomatosis, cutaneous angiomatous nodules, vasculopathy, and iliac spine lesion consistent with non-ossifying fibroma were observed. Tumor DNA revealed no NF2 mutations or chromosomal aberrations but a germline NF1-deletion (c.449_502delTGTT) was detected in his blood sample. His brother displayed neurofibromas, duodenal ganglioneuroma and colonic juvenile polyp, and his mother a neurofibroma, cutaneous squamous cell carcinoma, and jejunal gastrointestinal stromal tumor (GIST); both were affected by NF-1. In conclusion, perineurioma may rarely be NF-1 related and should be included in the spectrum of neoplasms occurring in this disorder.
authors.affiliation: Institute of Pathology, University Medical Center Göttingen Germany ; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School Boston MA, USA.
authors.forename: Inga-Marie
authors.initials: IM
authors.lastname: Schaefer
authors.forename: Philipp
authors.initials: P
authors.lastname: Ströbel
authors.forename: Aung
authors.initials: A
authors.lastname: Thiha
authors.forename: Jan Martin
authors.initials: JM
authors.lastname: Sohns
authors.forename: Christian
authors.initials: C
authors.lastname: Mühlfeld
authors.forename: Stefan
authors.initials: S
authors.lastname: Küffer
authors.forename: Gunther
authors.initials: G
authors.lastname: Felmerer
authors.forename: Adam
authors.initials: A
authors.lastname: Stepniewski
authors.forename: Silke
authors.initials: S
authors.lastname: Pauli
authors.forename: Abbas
authors.initials: A
authors.lastname: Agaimy
mesh_terms: D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics; D001706:Biopsy; D016514:Genes, Neurofibromatosis 1; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D040941:Heredity; D006801:Humans; D007150:Immunohistochemistry; D035002:Lower Extremity; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018317:Nerve Sheath Neoplasms / Q000737:chemistry / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D010375:Pedigree; D012983:Soft Tissue Neoplasms / Q000737:chemistry / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D014057:Tomography, X-Ray Computed
chemical_list: D014408:Biomarkers, Tumor
keywords: NF1; Perineurioma; neurofibromatosis; soft tissue; vasculopathy