Concomitant IDH wild-type glioblastoma and IDH1-mutant anaplastic astrocytoma in a patient with constitutional mismatch repair deficiency syndrome

Neuropathol Appl Neurobiol. 2018 Feb;44(2):233-239. doi: 10.1111/nan.12450.

Authors

F Galuppini¹, E Opocher², U Tabori³, I Mammi⁴, M Edwards³, B Campbell³, J Kelly³, A Viel⁵, M Quaia⁵, F Rivieri⁶, D D'Avella⁷, A Arcella⁸, F Giangaspero^{8

9}, M Fassan¹, M P Gardiman¹

Affiliations

¹ Surgical Pathology Unit, Department of Medicine (DIMED), University-Hospital of Padua, Padua, Italy.
² Pediatric Hematology-Oncology, Department of Woman and Child Health, University-Hospital of Padua, Padua, Italy.
³ Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, ON, Canada.
⁴ Center for the Study of Hereditary Colorectal Cancers, Venetian Oncology Institute, Padua, Italy.
⁵ Funcional Onco-Genomics and Genetics, CRO Aviano National Cancer Institute, Aviano, Italy.
⁶ Medical Genetic Service, Departmen t of Laboratory, Santa Chiara Hospital, Trento, Italy.
⁷ Neurosurgery Unit, Department of Neurosciences (DNS), Padua University, Padua, Italy.
⁸ IRCCS Neuromed, Pozzilli, Italy.
⁹ Department of Radiological, Oncological, and Anatomo-Pathological Science, Sapienza University of Rome, Rome, Italy.

PMID: 29130549
DOI: 10.1111/nan.12450

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Astrocytoma / complications
Astrocytoma / genetics
Astrocytoma / pathology*
Brain Neoplasms / complications
Brain Neoplasms / genetics
Brain Neoplasms / pathology*
Cerebellar Neoplasms / complications
Cerebellar Neoplasms / genetics
Cerebellar Neoplasms / pathology*
Child
Colorectal Neoplasms / complications
Colorectal Neoplasms / genetics
Colorectal Neoplasms / pathology*
Female
Glioblastoma / complications
Glioblastoma / genetics
Glioblastoma / pathology*
Humans
Isocitrate Dehydrogenase / genetics*
Mutation
Neoplasms, Multiple Primary / complications
Neoplasms, Multiple Primary / genetics
Neoplasms, Multiple Primary / pathology*
Neoplastic Syndromes, Hereditary / complications
Neoplastic Syndromes, Hereditary / genetics
Neoplastic Syndromes, Hereditary / pathology*

Substances

Isocitrate Dehydrogenase
IDH1 protein, human

Supplementary concepts

Turcot syndrome