Abstract
Molecular diagnostics is a rapidly growing discipline within pathology. This is largely explained by the changes in cancer treatment in the last decade. More and more types of cancer can be linked to specific DNA abnormalities and qualify for so-called targeted therapy. New techniques, such as next generation sequencing, allow tumour characterizations on the basis of DNA and/or RNA profiles. Moreover, the high sensitivity of digital PCR techniques enables DNA and RNA analysis on bodily fluids: the so called liquid biopsies. These developments will alter pathology practice dramatically in the coming years.
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Agagnostopoulos I, Hummel M. Epstein-Barr virus in tumours. Histopathol. 1996;29:297–315.
Blaheta HJ, et al. Lymph node micrometastases of cutaneous melanoma: increased sensitivity of molecular diagnosis in comparison to immunohistochemistry. Int J Cancer. 1998;79:318–23.
Boland CR, et al. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res. 1998;58:5248–57.
Bubendorf L, et al. Multiprobe FISH for enhanced detection of bladder cancer in voided urine specimens and bladder washings. Am J Clin Pathol. 2001;116:79–86.
Cox JT, et al. History of the use of HPV testing in cervical screening and in the management of abnormal cervical screening results. J Clin Virol. 2009;45:S2–12.
Crowley E, et al. Liquid biopsy: monitoring cancer-genetics in the blood. Nat Rev Clin Oncol. 2013;10(8):472–84.
Gallegos MI, et al. Genetic heterogeneity in patients with multiple neoplastic lung lesions: a report of three cases. J Thor Oncol. 2007;2:12–21.
Hynes NE, et al. ERBB receptors and cancer: the complexity of targeted inhibitors. Nat Rev Cancer. 2005;5:341–54.
Jeuken JW, et al. MS-MLPA: an attractive alternative laboratory assay for robust, reliable, and semiquantitative detection of MGMT promoter hypermethylation in gliomas. Lab Invest. 2007;87:1055–65.
Lazar A, et al. Molecular diagnostics of sarcomas. Chromosomal translocations in sarcomas. Arch Pathol Lab Med. 2006;130:1199–207.
Metzker ML. Sequencing technologies—the next generation. Nat Rev Genet. 2010;11(1):31–46.
Michaloglou C, et al. BRAF(E600) in benign and malignant human tumours. Oncogene. 2008;27:877–95.
Moelans CB, et al. HER-2/neu amplification testing in breast cancer by multiplex ligation-dependent probe amplification in comparison with immunohistochemistry and in situ hybridization. Cell Oncol. 2009;31:1–10.
Nyati MK, et al. Nat Rev Cancer. 2006.
Rubin BP, et al. Gastrointestinal stromal tumour. Lancet. 2007;369:1731–41.
Sharma SV, et al. Epidermal growth factor receptor mutations in lung cancer. Nat Rev Cancer. 2007;7:169–81.
van Dongen JJ, et al. Design and standardization of PCR primers and protocols for detection of clonal immunoglobulin and T-cell receptor gene recombinations in suspect lymphoproliferations: report of the BIOMED-2 Concerted Action BMH4-CT98-3936. Leukemia. 2003;17:2257–317.
Zoll GJ, et al. General primer-mediated polymerase chain reaction for detection of enteroviruses: application for diagnostic routine and persistent infections. J Clin Microbiol. 1992;30:160–5.
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Hinrichs, J.W.J., de Weger, R.A., van Blokland, W.T.M., Offerhaus, G.J.A., van Diest, P.J. (2017). Molecular Diagnostics in Pathology. In: van Pelt-Verkuil, E., van Leeuwen, W., te Witt, R. (eds) Molecular Diagnostics. Springer, Singapore. https://doi.org/10.1007/978-981-10-4511-0_5
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DOI: https://doi.org/10.1007/978-981-10-4511-0_5
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