Standard Nomenclature: Why Bother?
. b) The centromere (cen) is designated 10: p10 is the portion of the centromeric band that faces the short arm; q10 is the portion of the centromeric band…
Common Hereditary Cancer Syndromes
and John M. Quillin2 (1) Massey Cancer Center, Virginia Commonwealth University Health System, 1101 East Marshall Street, Richmond, VA 23298-0033, USA (2) Department of Human and Molecular Genetics, Virginia Commonwealth University Health System,…
Lymphoma and Lymphoproliferative Disorders
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…
Breast Tumors
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…
General Principles of Validating a Molecular Test
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…
Molecular Biology Basics in the “Omics” Era: Cancer Pathology
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…
Head and Neck Tumors
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…
Application of Chromosomal Microarray
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…
Gynecologic Tumors
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…
Molecular Methodologies
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…
