Assay Gene/fusion transcript Gene function Test methodology/specimen Test interpretation Clinical utility IGH-BCL2 Fusion of IGH-BCL2 t(14;18). Translocation of IGH (14q) promoter leads to aberrant overexpression of BCL2 which is anti-apoptotic…

Fig. 9.1 ESR1 (ER) positive by immunohistochemistry Fig. 9.2 ESR1 (ER) negative by immunohistochemistry The IHC results can be reported either as percentage of positive cells or by using one…

Performance characteristic Verification Validation Accuracy Required by CLIA-’88 and CAP Required by CLIA-’88 and CAP Precision Required by CLIA-’88 and CAP Required by CLIA-’88 and CAP Analytical sensitivity Not required…

Fig. 10.1 Nasopharyngeal carcinoma. (a) H&E-stained section of tumor cells-associated lymphocytes, 600× magnification. (b) CISH for EBER from the same tissue block as (a), 600× magnification Additional Applications Another scenario…

Fig. 2.1 Simplified cellular organization The aim of this chapter is to highlight some of the molecular abnormalities involved in carcinogenesis, and potential challenges to finding perfect ‘anti-cancer drugs. Carcinogenesis…

Fig. 7.1 Overview of copy number and SNP microarray methodology. This figure summarizes the “wet lab” (a) and the analytic (b) tasks associated with DNA copy number and SNP microarray…

Gene/protein Function Alteration Type 1 (%) Type 2 (%) MSI OG Hypermethylation 20–45 11 ERBB2 (HER2) OG Amplification 10–30 18–80 PTEN TSG Inactivation 83 11 PIK3CA OG Mutation 26–36 5…

Fig. 5.1 Sanger sequencing traces (a) using the Forward primer, and (b) the Reverse primer. The position of the variant is indicated with an arrow In addition, the limit of…

Fig. 14.1 Triple immunostain cocktail of a prostate biopsy. In the definitely benign prostate acini (top), a layer of basal cells is stained brown, representing reactivity for cytokeratin 34βE12, a…