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Occurrence of high‐grade glioma in Noonan syndrome: Report of two cases
Author(s) -
ElAyadi Moatasem,
Ansari Marc,
Kühnöl Caspar D.,
Bendel Anne,
Sturm Dominik,
Pietsch Torsten,
Kramm Christof M.,
Bueren André O.
Publication year - 2019
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.27625
Subject(s) - noonan syndrome , medicine , ptpn11 , medulloblastoma , anaplastic astrocytoma , glioma , pilocytic astrocytoma , short stature , pathology , astrocytoma , germline , cancer research , cancer , genetics , kras , colorectal cancer , biology , gene
Noonan syndrome (NS) is an autosomal dominant disorder commonly caused by PTPN11 germline mutations. Patients are characterized by short stature, congenital heart defects, facial dysmorphism, and increased risk of malignancies including brain tumors. Commonly associated brain tumors are dysembryoplastic neuroepithelial tumor and low‐grade glioma. We report two cases of anaplastic astrocytoma with PTPN11 ‐related NS. We conducted a systematic search of medical databases looking for other reported cases of high‐grade glioma associated with NS and identified 24 cases of brain tumors, all of which were low‐grade glial or glioneuronal tumors except for one case of medulloblastoma.