Lab Med Online.  2021 Oct;11(4):223-229. 10.47429/lmo.2021.11.4.223.

Diagnostic Classification and Genomic Analyses of Cancer

• Kim JW

• KMID: 2526079
• DOI: http://doi.org/10.47429/lmo.2021.11.4.223

Abstract

Diagnostic classification of diseases is fundamental to disease diagnosis and treatment. Cancers have traditionally been classified based on histopathology, but cancer is defined as a genetic disease. Emerging genetic knowledge and genomic techniques applied to cancer are changing the diagnostic paradigm. Successes with targeted drug treatments such as Imatinib for chronic myeloid leukemia and Herceptin for breast cancer are accelerating the shift to the clinical genetic analysis of cancer. A recent cancer classification study using The Cancer Genome Atlas (TCGA) data yielded better performance than traditional histopathology. Eventually, genomic analysis will thoroughly reform cancer classification and diagnostic criteria.

Keyword

Cancer genomics; Cancer classification; Genomic analysis; Precision medicine

Figure

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  Fig. 1 Advances in understanding chronic myeloid leukemia (CML) and strategies for its treatment. CML is the first described leukemia. Dr. Bennett was the first researcher to report CML, but he had regarded it as an inflammation; Dr. Virchow suggested that it could be cancer. Abbreviation: TKI, tyrosine kinase inhibitor.

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  Fig. 2 The progress of cancer classification of TCGA program. *Somatic mutations were included when 12 cancer types were classified using other platforms (besides the 5 platforms) but were excluded when 33 cancer types were classified. Moreover, because the RPPA platform was used for a few specimens (7,858/10,522), only four platforms were used to analyze all specimens.

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