Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.
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Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome. / Babovic-Vuksanovic, D; Messiaen, Ludwine; Nagel, Christoph; Brems, Hilde; Scheithauer, Bernd; Denayer, Ellen; Mao, Rong; Sciot, Raf; Janowski, Karen M; Schuhmann, Martin U; Claes, Kathleen; Beert, Eline; Garrity, James A; Spinner, Robert J; Stemmer-Rachamimov, Anat; Gavrilova, Ralitza; Frank, Van Calenbergh; Mautner, Viktor Felix; Legius, Eric.
in: EUR J HUM GENET, Jahrgang 20, Nr. 6, 6, 2012, S. 618-625.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.
AU - Babovic-Vuksanovic, D
AU - Messiaen, Ludwine
AU - Nagel, Christoph
AU - Brems, Hilde
AU - Scheithauer, Bernd
AU - Denayer, Ellen
AU - Mao, Rong
AU - Sciot, Raf
AU - Janowski, Karen M
AU - Schuhmann, Martin U
AU - Claes, Kathleen
AU - Beert, Eline
AU - Garrity, James A
AU - Spinner, Robert J
AU - Stemmer-Rachamimov, Anat
AU - Gavrilova, Ralitza
AU - Frank, Van Calenbergh
AU - Mautner, Viktor Felix
AU - Legius, Eric
PY - 2012
Y1 - 2012
N2 - Four unrelated patients having an unusual clinical phenotype, including multiple peripheral nerve sheath tumors, are reported. Their clinical features were not typical of any known familial tumor syndrome. The patients had multiple painful neurofibromas, including bilateral orbital plexiform neurofibromas, and spinal as well as mucosal neurofibromas. In addition, they exhibited a marfanoid habitus, shared similar facial features, and had enlarged corneal nerves as well as neuronal migration defects. Comprehensive NF1, NF2 and SMARCB1 mutation analyses revealed no mutation in blood lymphocytes and in schwann cells cultured from plexiform neurofibromas. Furthermore, no mutations in RET, PRKAR1A, PTEN and other RAS-pathway genes were found in blood leukocytes. Collectively, the clinical and pathological findings in these four cases fit no known syndrome and likely represent a new disorder.
AB - Four unrelated patients having an unusual clinical phenotype, including multiple peripheral nerve sheath tumors, are reported. Their clinical features were not typical of any known familial tumor syndrome. The patients had multiple painful neurofibromas, including bilateral orbital plexiform neurofibromas, and spinal as well as mucosal neurofibromas. In addition, they exhibited a marfanoid habitus, shared similar facial features, and had enlarged corneal nerves as well as neuronal migration defects. Comprehensive NF1, NF2 and SMARCB1 mutation analyses revealed no mutation in blood lymphocytes and in schwann cells cultured from plexiform neurofibromas. Furthermore, no mutations in RET, PRKAR1A, PTEN and other RAS-pathway genes were found in blood leukocytes. Collectively, the clinical and pathological findings in these four cases fit no known syndrome and likely represent a new disorder.
KW - Humans
KW - Male
KW - Female
KW - Adolescent
KW - Young Adult
KW - Mutation
KW - Nerve Sheath Neoplasms/pathology
KW - Schwann Cells/metabolism
KW - Face/abnormalities
KW - Marfan Syndrome/pathology
KW - Neurofibromatoses/pathology
KW - Pain/genetics/pathology
KW - Humans
KW - Male
KW - Female
KW - Adolescent
KW - Young Adult
KW - Mutation
KW - Nerve Sheath Neoplasms/pathology
KW - Schwann Cells/metabolism
KW - Face/abnormalities
KW - Marfan Syndrome/pathology
KW - Neurofibromatoses/pathology
KW - Pain/genetics/pathology
M3 - SCORING: Journal article
VL - 20
SP - 618
EP - 625
JO - EUR J HUM GENET
JF - EUR J HUM GENET
SN - 1018-4813
IS - 6
M1 - 6
ER -