Soft Tissue Tumors
Fig. 13.1 Adult-type fibrosarcoma. Fibrosarcoma has evolved from among the most common diagnoses among soft tissue sarcomas to a diagnosis of rigorous exclusion. The morphology depicted, that of a “herringbone”…
Molecular Oncologic Testing of Skin and Adnexa Tumors
Genetic mutation Mutation type Melanoma subtypes affected Melanocytic nevus subtypes affected Type of test KIT Point mutation, amplification Acral (~15 %), Mucosal (~15 %), CSD skin (~10–15 %) Uncommon/rare IHC…
Gastrointestinal and Pancreatobiliary Tumors
Fig. 12.1 Age-standardized colorectal cancer incidence rates by World Health Organization region and sex for 2008 [4] Mortality rates in the United States have declined since the mid-1980s, due to…
Lung and Mediastinal Tumors
Gene Alteration Frequency (%) Histology Smoking history frequent patterns EGFR Mutation 10–35 Adenocarcinoma, few adenosquamous carcinoma Frequent in never smokers KRAS Mutation 15–25 Mostly in adenocarcinomas, frequently mucinous morphology Former/current…
Central Nervous System Tumors
Example clinical reporting—MGMT Negative result RESULT: Gene Methylation NOT detected Positive result RESULT: Gene Methylation DETECTED Methylation of the MGMT (0 (6)–methylguanine–DNA methyltransferase) gene was detected using methylation specific PCR…
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…
