Abstract
This chapter covers the molecular pathology of solid tumors. The common cytogenetic and molecular genetic abnormalities and their relationship to underlying tumorigenesis are summarized for major solid tumor entities. Rational use of cytogenetic and molecular markers is discussed, along with their diagnostic, prognostic, and predictive significances.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Suggested Reading
Borger DR, Tanabe KK, Fan KC, et al. Frequent mutation of isocitrate dehydrogenase (IDH)1 and IDH2 in cholangiocarcinoma identified through broad-based tumor genotyping. Oncologist. 2012;17:72–9.
Bucheit AD, Davies MA. Emerging insights into resistance to BRAF inhibitors in melanoma. Biochem Pharmacol. 2014;87:381–9.
Cancer Genome Atlas Research Network. Comprehensive molecular characterization of human colon and rectal cancer. Nature. 2012a;487:330–7.
Cancer Genome Atlas Research Network. Comprehensive molecular portraits of human breast tumours. Nature. 2012b;490:61–70.
Cancer Genome Atlas Research Network. Integrated genomic analyses of ovarian carcinoma. Nature. 2011;474:609–15.
Cancer Genome Atlas Research Network. Comprehensive genomic characterization of squamous cell lung cancers. Nature. 2012c;489:519–25.
Cancer Genome Atlas Research Network. Comprehensive molecular characterization of clear cell renal cell carcinoma. Nature. 2013;499:43–9.
Cancer Genome Atlas Research Network. Comprehensive molecular characterization of urothelial bladder carcinoma. Nature. 2014a;507:315–22.
Cancer Genome Atlas Research Network. Comprehensive molecular profiling of lung adenocarcinoma. Nature. 2014b;511:543–50.
Cancer Genome Atlas Research Network, Kandoth C, Schultz N, et al. Integrated genomic characterization of endometrial carcinoma. Nature. 2013;497:67–73.
Carter CA, Giaccone G. Treatment of nonsmall cell lung cancer: overcoming the resistance to epidermal growth factor receptor inhibitors. Curr Opin Oncol. 2012;24:123–9.
Chong CR, Janne PA. The quest to overcome resistance to EGFR-targeted therapies in cancer. Nat Med. 2013;19:1389–400.
Darragh TM, Colgan TJ, Cox JT, et al. The Lower Anogenital Squamous Terminology Standardization Project for HPV-Associated Lesions: background and consensus recommendations from the College of American Pathologists and the American Society for Colposcopy and Cervical Pathology. Arch Pathol Lab Med. 2012;136:1266–97.
DeSouza RM, Jones BR, Lowis SP, Kurian KM. Pediatric medulloblastoma - update on molecular classification driving targeted therapies. Front Oncol. 2014;4:176.
Dowsett M, Sestak I, Lopez-Knowles E, et al. Comparison of PAM50 risk of recurrence score with Oncotype DX and IHC4 for predicting risk of distant recurrence after endocrine therapy. J Clin Oncol. 2013;31:2783–90.
Febbo PG, Ladanyi M, Aldape KD, et al. NCCN task force report: evaluating the clinical utility of tumor markers in oncology. J Natl Compr Canc Netw. 2011;9:S1–32.
Firme MR, Marra MA. The molecular landscape of pediatric brain tumors in the next-generation sequencing era. Curr Neurol Neurosci Rep. 2014;14:474.
Fletcher CDM, World Health Organization, International Agency for Research on Cancer. WHO classification of tumours of soft tissue and bone, World Health Organization classification of tumours. 4th ed. Lyon: IARC; 2013.
Gajjar A, Pfister SM, Taylor MD, Gilbertson RJ. Molecular insights into pediatric brain tumors have the potential to transform therapy. Clin Cancer Res. 2014;20:5630–40.
Katabi N, Ghossein R, Ho A, et al. Consistent PLAG1 and HMGA2 abnormalities distinguish carcinoma ex-pleomorphic adenoma from its de novo counterparts. Hum Pathol. 2015;46:26–33.
Keutgen XM, Filicori F, Fahey 3rd TJ. Molecular diagnosis for indeterminate thyroid nodules on fine needle aspiration: advances and limitations. Expert Rev Mol Diagn. 2013;13:613–23.
Kurman RJ, International Agency for Research on Cancer, World Health Organization. WHO classification of tumours of female reproductive organs, World Health Organization classification of tumours. 4th ed. Lyon: International Agency for Research on Cancer; 2014.
Lakhani SR, International Agency for Research on Cancer, World Health Organization. WHO classification of tumours of the breast, World Health Organization classification of tumours. 4th ed. Lyon: International Agency for Research on Cancer; 2012.
Leary SE, Olson JM. The molecular classification of medulloblastoma: driving the next generation clinical trials. Curr Opin Pediatr. 2012;24:33–9.
Lehmann BD, Pietenpol JA. Identification and use of biomarkers in treatment strategies for triple-negative breast cancer subtypes. J Pathol. 2014;232:142–50.
Marais R, Sellers W, Livingston D, Mihich E. Twenty-fourth annual Pezcoller symposium: molecular basis for resistance to targeted agents. Cancer Res. 2013;73:1046–9.
Masui K, Cloughesy TF, Mischel PS. Review: molecular pathology in adult high-grade gliomas: from molecular diagnostics to target therapies. Neuropathol Appl Neurobiol. 2012;38:271–91.
Northcott PA, Korshunov A, Witt H, et al. Medulloblastoma comprises four distinct molecular variants. J Clin Oncol. 2011;29:1408–14.
Omur O, Baran Y. An update on molecular biology of thyroid cancers. Crit Rev Oncol Hematol. 2014;90:233–52.
Parangi S, Suh H. The role of genetic markers in the evaluation and management of thyroid nodules. Surg Clin North Am. 2014;94:515–28.
Rivenbark AG, O’Connor SM, Coleman WB. Molecular and cellular heterogeneity in breast cancer: challenges for personalized medicine. Am J Pathol. 2013;183:1113–24.
Saiki Y, Horii A. Molecular pathology of pancreatic cancer. Pathol Int. 2014;64:10–9.
Shtivelman E, Beer TM, Evans CP. Molecular pathways and targets in prostate cancer. Oncotarget. 2014;5:7217–59.
Simpson RH, Skalova A, Di Palma S, Leivo I. Recent advances in the diagnostic pathology of salivary carcinomas. Virchows Arch. 2014;465:371–84.
Somoza AD, Aly FZ. Utility of molecular tests in cytopathology. CytoJournal. 2014;11:5.
Spaans JN, Goss GD. Trials to overcome drug resistance to EGFR and ALK targeted therapies - past, present, and future. Front Oncol. 2014;4:233.
Ward LS, Kloos RT. Molecular markers in the diagnosis of thyroid nodules. Arq Bras Endocrinol Metabol. 2013;57:89–97.
Wood LD, Klimstra DS. Pathology and genetics of pancreatic neoplasms with acinar differentiation. Semin Diagn Pathol. 2014;31:491–7.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2016 Springer International Publishing Switzerland
About this chapter
Cite this chapter
Brown, S.L., Press, R.D. (2016). Molecular Pathology of Solid Tumors. In: Cheng, L., Bostwick, D. (eds) Essentials of Anatomic Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-23380-2_12
Download citation
DOI: https://doi.org/10.1007/978-3-319-23380-2_12
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-23379-6
Online ISBN: 978-3-319-23380-2
eBook Packages: MedicineMedicine (R0)