Journal of Medical & Surgical Pathology
Open Access

Department of Anatomical Pathology, Singapore General Hospital, Singapore

Publications

• Review Article   
  Detection of Usual and Unusual IDH Mutations in Cerebrospinal Fluid: A Case Illustration and Discussion around the Potential of Liquid Biopsy in the Practice of Surgical Neuropathology
  Author(s): Ming Lee*, Gek San Tan, Chee Kian Tham and Kiat-Hon Tony Lim
  
  Isocitrate dehydrogenase (IDH) mutations are a common event in secondary glioblastoma multiforme and lower-grade adult infiltrative astrocytomas and independently confer a better prognosis. These are highly conserved mutations during glioma progression and thus also a useful diagnostic marker amenable to modern molecular sequencing methods. These mutations can even be detected in sites distant from the primary tumour. We use an illustrative case of a patient with radiologically suspected recurrent astrocytoma and negative histology, but positive IDH-mutated tumour DNA detected within CSF. Our results demonstrated the usefulness of liquid biopsy for recurrent glioma within the context of equivocal or negative histopathological results, whilst also showing the ability to detect a de-novo IDH-2 mutation not present in the previous resection. Building on this &lsq.. View More»
  DOI: 10.35248/2472-4971.5.4.185

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