Epidermal growth factor receptor overexpression is common and not correlated to gene copy number in ependymoma

Autor: Manfred Westphal, Markus Glatzel, Carsten Friedrich, Christian Bernreuther, Ronald Simon, André O. von Bueren, Diego Sepulveda-Falla, Larissa Kolevatova, Leander van den Boom, Tobias Grob
Rok vydání: 2015
Předmět:
Ependymoma
Male
Pathology
Spinal Cord Neoplasms/genetics
Gene Dosage
Infratentorial Neoplasms
Exon
0302 clinical medicine
Gene duplication
Missense mutation
Copy-number variation
Epidermal growth factor receptor
Spinal Cord Neoplasms
Child
In Situ Hybridization
Fluorescence
Tissue microarray
ddc:618
integumentary system
Brain Neoplasms
General Medicine
Middle Aged
Immunohistochemistry
ErbB Receptors
030220 oncology & carcinogenesis
Child
Preschool
Ependymoma/genetics
Female
Adult
medicine.medical_specialty
Adolescent
Infratentorial Neoplasms/genetics
Biology
03 medical and health sciences
Young Adult
medicine
Humans
Aged
Brain Neoplasms/genetics
Supratentorial Neoplasms
Gene Dosage/genetics
medicine.disease
Supratentorial Neoplasms/genetics
Receptor
Epidermal Growth Factor/genetics
Tissue Array Analysis
Pediatrics
Perinatology and Child Health
Mutation
Cancer research
biology.protein
Neurology (clinical)
030217 neurology & neurosurgery
Zdroj: Child's Nervous System, Vol. 32, No 2 (2016) pp. 281-90
ISSN: 1433-0350
0256-7040
Popis: The aim of this study was to investigate the epidermal growth factor receptor (EGFR) status in ependymoma specimens, as there is a need for new prognostic and druggable targets in this disease. Ependymomas (WHO grade II, n = 40; WHO grade III, n = 15) located spinal (n = 35), infratentorial (n = 14), and supratentorial (n = 6) of 53 patients with a median age of 40 (range, 2–79) years were analyzed for Ki-67, p53, and EGFR expression by immunohistochemistry using a tissue microarray and for EGFR gene copy number alterations/mutations. Results were correlated to clinical data. EGFR overexpression was found in 30/60 % of ependymomas depending on the antibody used and was more pronounced in WHO grade III. High EGFR gene copy number gains were found in 6 (11 %) ependymomas with half of them being amplifications. EGFR amplified ependymomas displayed an EGFR overexpression with both antibodies in two of three cases. A missense mutation in exon 20 of EGFR (S768I) was detected in one amplified case. EGFR is frequently overexpressed in ependymomas. Other mechanisms than amplification of the EGFR gene appear to contribute to EGFR overexpression in most cases. EGFR mutations may be present in a small subset of ependymomas.
Databáze: OpenAIRE
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