Figure 59.1 Roche 454 GS FLX sequencing. Template DNA is fragmented, end repaired, ligated to adapters, and clonally amplified by emulsion PCR. After amplification, the beads are deposited into picotiter-plate…
Name Molecular characteristics HLA-F Class I-like molecule HLA-G Class I-like molecule HLA-H Class I pseudogene HLA-A Class I α chain HLA-J Class I pseudogene HLA-E Class I-like molecule HLA-C Class…
T-cell prolymphocytic leukemia T-cell large granular lymphocytic leukemia Chronic lymphoproliferative disorders of NK cells Aggressive NK-cell leukemia Epstein-Barr virus (EBV) positive T-cell lymphoproliferative disorders of childhood Systemic EBV-positive T-cell lymphoproliferative…
Type of analysis Typically tested specimens Specimen identification Unknown specimen Specimen confirmed to be from the known individual(s) Histologic floater Macrodissected floater tissue Main tissue on slide separated from floater…
Change Gene Encodes Location Function Tumor Suppressor Genes NKX3.1 Prostate restricted homeobox protein 8p21.2 Suppresses cell proliferation PTEN Phosphatase and tensin homolog 10q23.31 Suppresses cell proliferation and increases apoptosis CDKN1B…
Figure 19.1 Normal and polycystic kidneys. A normal kidney is shown on the left and a kidney with a high number of variable-sized cysts that characterize polycystic kidney disease is…
Pathway Genes Frequency (%) MAPK pathway KRAS 40–45 NRAS 2.5 BRAF 5–10 PI3K pathway PIK3CA 15 PTEN 10–20 AKT 5 Table 31.2 Overall RAS mutations in CRCs without mutations in…
Abbreviations used in text Precursor B–cell lymphoblastic leukemia/lymphoma Pre-B ALL/LBL Mature B–cell neoplasms Chronic lymphocytic leukemia/small lymphocytic lymphoma CLL/SLL B-cell prolymphocytic leukemia PLL Hairy cell leukemia HCL Lymphoplasmacytic…
Genetic predisposition Down syndrome Fanconi anemia Other inherited bone marrow failure syndromes: Shwachman-Diamond Diamond-Blackfan Dyskeratosis congenita Kostmann’s Familial platelet disorder (RUNX1 mutation) DNA repair defects, e.g., Bloom syndrome Other germline…
Figure 41.1 Schematic representation of two types of gene alterations generated by chromosomal translocations. (a) A protooncogene (B) is activated by the promoter and enhancer elements of a distinct translocation…
