Genetic aberrations and molecular biology of skull base chordoma and chondrosarcoma.

Abstract:

:Chordomas and chondrosarcomas are two major malignant bone neoplasms located at the skull base. These tumors are rarely metastatic, but can be locally invasive and resistant to conventional chemotherapies and radiotherapies. Accordingly, therapeutic approaches for the treatment of these tumors can be difficult. Additionally, their location at the skull base makes them problematic. Although accurate diagnosis of these tumors is important because of their distinct prognoses, distinguishing between these tumor types is difficult due to overlapping radiological and histopathological findings. However, recent accumulation of molecular and genetic studies, including extracranial location analysis, has provided us clues for accurate diagnosis. In this report, we review the genetic aberrations and molecular biology of these two tumor types. Among the abundant genetic features of these tumors, brachyury immunohistochemistry and direct sequencing of IDH1/2 are simple and useful techniques that can be used to distinguish between these tumors. Although it is still unclear why these tumors, which have such distinct genetic backgrounds, show similar histopathological findings, comparison of their genetic backgrounds could provide essential information.

journal_name

Brain Tumor Pathol

journal_title

Brain tumor pathology

authors

Kitamura Y,Sasaki H,Yoshida K

doi

10.1007/s10014-017-0283-y

subject

Has Abstract

pub_date

2017-04-01 00:00:00

pages

78-90

issue

2

eissn

1433-7398

issn

1861-387X

pii

10.1007/s10014-017-0283-y

journal_volume

34

pub_type

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