Molecular pathologic diagnosis of epidermal growth factor receptor

Neuro-Oncology

Volumn 16, Issue , 2014, Pages viii1-viii6

  Maire, Cecile L ^a   Ligon, Keith L ^a,b,c,d  

^a DANA FARBER CANCER INSTITUTE   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

Author keywords

diagnostics; EGFR; GBM; pathology; sequencing

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR; GENOMIC DNA; PROTEIN TYROSINE KINASE;

CANCER DIAGNOSIS; CANCER PATIENT; CANCER PROGNOSIS; CLINICAL TRIAL (TOPIC); COLORIMETRY; COPY NUMBER VARIATION; EXOME; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE EXPRESSION; GENE REARRANGEMENT; GLIOBLASTOMA; HUMAN; IN SITU HYBRIDIZATION; MOLECULAR DIAGNOSIS; ONCOGENE; POINT MUTATION; REVIEW; SINGLE CELL ANALYSIS; WILD TYPE; BRAIN NEOPLASMS; GENETICS; GLIOMA; METABOLISM; MUTATION;

BRAIN NEOPLASMS; GENE AMPLIFICATION; GLIOBLASTOMA; GLIOMA; HUMANS; MUTATION; RECEPTOR, EPIDERMAL GROWTH FACTOR;

EID: 84911109685     PISSN: 15228517     EISSN: 15235866     Source Type: Journal    
DOI: 10.1093/neuonc/nou294     Document Type: Review

References (38)

1. Mellinghoff IK, Wang MY, Vivanco I, et al. Molecular determinants of the response of glioblastomas to EGFR kinase inhibitors. N Engl J Med. 2005;353(19):2012-2024.
2. Biernat W, Huang H, Yokoo H, et al. Predominant expression of mutant EGFR (EGFRvIII) is rare in primary glioblastomas. Brain Pathol. 2004;14(2):131-136.
3. Doetsch F, Petreanu L, Caille I, et al. EGF converts transit-amplifying neurogenic precursors in the adult brain into multipotent stem cells. Neuron. 2002;36(6):1021-1034.
4. Bachoo RM, Maher EA, Ligon KL, et al. Epidermal growth factor receptor and Ink4a/Arf: convergent mechanisms governing terminal differentiation and transformation along the neural stem cell to astrocyte axis. Cancer Cell. 2002;1(3):269-277.
5. Tavazoie M, Van der Veken L, Silva-Vargas V, et al. A specialized vascular niche for adult neural stem cells. Cell Stem Cell. 2008;3(3): 279-288.
6. Aguirre A, Dupree JL, Mangin JM, et al. A functional role for EGFR signaling in myelination and remyelination. Nat Neurosci. 2007; 10(8):990-1002.
7. Zhou YH, Hess KR, Raj VR, et al. Establishment of prognostic models for astrocytic and oligodendroglial brain tumors with standardized quantification of marker gene expression and clinical variables. Biomark Insights. 2010;5:153-168.
8. Kastenhuber ER, Huse JT, Berman SH, et al. Quantitative assessment of intragenic receptor tyrosine kinase deletions in primary glioblastomas: their prevalence and molecular correlates. Acta Neuropathol. 2014;127(5):747-759.
9. Francis JM, Zhang CZ, Maire CL, et al. EGFR Variant Heterogeneity in Glioblastoma Resolved through Single-Nucleus Sequencing. Cancer Discov. 2014;4(8):956-971.
10. Brennan CW, Verhaak RG, McKenna A, et al. The somatic genomic landscape of glioblastoma. Cell. 2013;155(2):462-477.
11. Snuderl M, Fazlollahi L, Le LP, et al. Mosaic amplification of multiple receptor tyrosine kinase genes in glioblastoma. Cancer Cell. 2011; 20(6):810-817.
12. Cryan JB, Haidar S, Ramkissoon LA, et al. Clinical multiplexed exome sequencing distinguishes adult oligodendroglial neoplasms from astrocytic and mixed lineage gliomas. Oncotarget. 2014; [Epub ahead of print].
13. Ohgaki H, Dessen P, Jourde B, et al. Genetic pathways to glioblastoma: a population-based study. Cancer Res. 2004;64(19): 6892-6899.
14. Wen PY, Chang SM, Lamborn KR, et al. Phase I/II study of erlotinib and temsirolimus for patients with recurrent malignant gliomas: North American Brain Tumor Consortium trial 04-02. Neuro Oncol. 2014;16(4):567-578.
15. Fischer I, de la Cruz C, Rivera AL, et al. Utility of chromogenic in situ hybridization (CISH) for detection of EGFR amplification in glioblastoma: comparison with fluorescence in situ hybridization (FISH). Diagn Mol Pathol. 2008;17(4):227-230.
16. Craig JM, Vena N, Ramkissoon S, et al. DNA fragmentation simulation method (FSM) and fragment size matching improve aCGH performance of FFPE tissues. PloS One. 2012;7(6):e38881.
17. Mohapatra G, Engler DA, Starbuck KD, et al. Genome-wide comparison of paired fresh frozen and formalin-fixed paraffinembedded gliomas by custom BAC and oligonucleotide array comparative genomic hybridization: facilitating analysis of archival gliomas. Acta Neuropathol. 2011;121(4):529-543.
18. Dougherty MJ, Tooke LS, Sullivan LM, et al. Clinical utilization of high-resolution single nucleotide polymorphism based oligonucleotide arrays in diagnostic studies of pediatric patients with solid tumors. Cancer Gen. 2012;205(1-2):42-54.
19. Gessi M, Zur Muhlen A, Hammes J, et al. Genome-wide DNA copy number analysis of desmoplastic infantile astrocytomas and desmoplastic infantile gangliogliomas. J Neuropathol Exp Neurol. 2013;72(9):807-815.
20. Ducray F, de Reynies A, Chinot O, et al. An ANOCEF genomic and transcriptomic microarray study of the response to radiotherapy or to alkylating first-line chemotherapy in glioblastoma patients. Mol Cancer. 2010;9:234.
21. Aldape KD, Ballman K, Furth A, et al. Immunohistochemical detection of EGFRvIII in high malignancy grade astrocytomas and evaluation of prognostic significance. J Neuropathol Exp Neurol. 2004;63(7):700-707.
22. Nishikawa R, Sugiyama T, Narita Y, et al. Immunohistochemical analysis of the mutant epidermal growth factor, deltaEGFR, in glioblastoma. Brain Tumor Pathol. 2004;21(2):53-56.
23. Callaghan T, Antczak M, Flickinger T, et al. A complete description of the EGF-receptor exon structure: implication in oncogenic activation and domain evolution. Oncogene. 1993;8(11):2939-2948.
24. Frederick L, Wang XY, Eley G, et al. Diversity and frequency of epidermal growth factor receptor mutations in human glioblastomas. Cancer Res. 2000;60(5):1383-1387.
25. Ekstrand AJ, Sugawa N, James CD, et al. Amplified and rearranged epidermal growth factor receptor genes in human glioblastomas reveal deletions of sequences encoding portions of the N-and/or C-terminal tails. Proc Natl Acad Sci USA. 1992;89(10): 4309-4313.
26. Cho J, Pastorino S, Zeng Q, et al. Glioblastoma-derived epidermal growth factor receptor carboxyl-terminal deletion mutants are transforming and are sensitive to EGFR-directed therapies. Cancer Res. 2011;71(24):7587-7596.
27. Frattini V, Trifonov V, Chan JM, et al. The integrated landscape of driver genomic alterations in glioblastoma. Nature Gen. 2013; 45(10):1141-1149.
28. Shah N, Lankerovich M, Lee H, et al. Exploration of the gene fusion landscape of glioblastoma using transcriptome sequencing and copy number data. BMC Genomics. 2013;14:818.
29. McFadden DG, Dias-Santagata D, Sadow PM, et al. Identification of oncogenic mutations and gene fusions in the follicular variant of papillary thyroid carcinoma. J Clin Endocrinol Metab. 2014: jc20142611. [Epub ahead of print].
30. Haas-Kogan DA, Prados MD, Tihan T, et al. Epidermal growth factor receptor, protein kinase B/Akt, and glioma response to erlotinib. J Natl Cancer Inst. 2005;97(12):880-887.
31. Parsons DW, Jones S, Zhang X, et al. An integrated genomic analysis of human glioblastoma multiforme. Science. 2008;321(5897): 1807-1812.
32. Lee JC, Vivanco I, Beroukhim R, et al. Epidermal growth factor receptor activation in glioblastoma through novel missense mutations in the extracellular domain. PLoS Med. 2006;3(12):e485.
33. Vivanco I, Robins HI, Rohle D, et al. Differential sensitivity of gliomaversus lung cancer-specific EGFR mutations to EGFR kinase inhibitors. Cancer Discov. 2012;2(5):458-471.
34. Idbaih A, Aimard J, Boisselier B, et al. Epidermal growth factor receptor extracellular domain mutations in primary glioblastoma. Neuropathol Appl Neurobiol. 2009;35(2):208-213.
35. Ekstrand AJ, James CD, Cavenee WK, et al. Genes for epidermal growth factor receptor, transforming growth factor alpha, and epidermal growth factor and their expression in human gliomas in vivo. Cancer Res. 1991;51(8):2164-2172.
36. Chi AS, Batchelor TT, Dias-Santagata D, et al. Prospective, high-throughput molecular profiling of human gliomas. J Neuroncol. 2012;110(1):89-98.
37. MacConaill LE, Garcia E, Shivdasani P, et al. Prospective Enterprise-Level Molecular Genotyping of a Cohort of Cancer Patients. J Mol Diagn. 2014; [Epub ahead of print].
38. Del Vecchio CA, Giacomini CP, Vogel H, et al. EGFRvIII gene rearrangement is an early event in glioblastoma tumorigenesis and expression defines a hierarchy modulated by epigenetic mechanisms. Oncogene. 2013;32(21):2670-2681.