Finding of IDH1 R132H mutation in histologically non-neoplastic glial tissue changes surgical strategies, a case report

Introduction In 2016, the WHO classification of diffuse astrocytoma began to include isocitrate dehydrogenase (IDH) mutation in addition to histology. Results We here demonstrate a case where a 14-year-old boy presented with a parietal tumor with no histological evidence of neoplasia but with an IDH...

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Bibliographic Details
Published in:Child's nervous system 2017-07, Vol.33 (7), p.1217-1220
Main Authors: Søndergaard, Christian Baastrup, Scheie, David, Sehested, Astrid Marie, Skjøth-Rasmussen, Jane
Format: Article
Language:English
Subjects:
Adolescent
Astrocytoma - genetics
Astrocytoma - pathology
Astrocytoma - surgery
Brain Neoplasms - genetics
Brain Neoplasms - pathology
Brain Neoplasms - surgery
Case Report
Humans
Isocitrate Dehydrogenase - genetics
Male
Medicine
Medicine & Public Health
Mutation - genetics
Neurosciences
Neurosurgery
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Summary:Introduction In 2016, the WHO classification of diffuse astrocytoma began to include isocitrate dehydrogenase (IDH) mutation in addition to histology. Results We here demonstrate a case where a 14-year-old boy presented with a parietal tumor with no histological evidence of neoplasia but with an IDH1 mutation. Due to the IDH1 R132H mutation, the patient was diagnosed with diffuse astrocytoma WHO grade II and underwent successful gross total resection of this near-eloquently located tumor. Conclusion This case exemplifies how inclusion of immunohistochemistry in tumor classification alters surgical strategy and might improve accuracy and time to diagnosis.
ISSN:0256-7040
1433-0350
DOI:10.1007/s00381-017-3348-7