angyu Gu

IGF2BP1: a novel IGH translocation partner in B acute lymphoblastic leukemia

Acute lymphoblastic leukemia (ALL) is the most common form of childhood malignancy. Detecting and characterizing recurrent translocations is critical for ALL diagnosis and treatment. IGH (immunoglobulin heavy chain) rearrangements are relatively common in lymphoproliferative disorders, including ALL. Here we report a 16-year-old boy who was diagnosed with B acute lymphoblastic leukemia. Chromosome analysis showed a t(14;17)(q32;q21) with an additional copy of the derivative chromosome 14. IGH rearrangement was confirmed by concurrent FISH analysis. Chromosomal microarray analysis (CMA) showed the breakpoint at the 5 prime end of the IGF2BP1 gene located at 17q21.32. To the best of our knowledge, this is the first report of ALL with a 14;17 translocation resulting in an IGH-IGF2BP1 fusion; however, previous studies have implicated a role for up-regulation of IGF2BP1 in ALL.

Cytogenomic aberrations associated with prostate cancer.

Genetic changes associated with prostate cancer have finally begun to elucidate some of the mechanisms involved in the etiology of this complex and common disease. We highlight consistent and relatively frequent abnormalities seen by various methodologies. Specifically, the results of conventional and molecular cytogenetic studies, genome-wide association studies with single nucleotide polymorphisms, recurrent gene fusions, and epigenetic analyses are discussed.

A rapid and reliable chromosome analysis method for products of conception using interphase nuclei

Karyotype determination has a central role in the genetic workup of pregnancy loss, as aneuploidy (trisomy and monosomy) and polyploidy (triploidy and tetraploidy) are the cause in at least 50% of first trimester, 25% of second trimester, and 11% of third trimester miscarriages. There are several limitations with the current approaches of obtaining a karyotype using traditional cytogenetics, fluorescence in situ hybridization with a limited number of probes, and chromosomal microarray. These include culture failure, incomplete results, lower sensitivity, and longer reporting time.

Intellectual Disability and Developmental Delay: Cytogenetic Testing

Intellectual disability/developmental delay (ID/DD) is not a specific diagnosis, but a description of certain conditions in which intellectual functioning shows significant limitations when compared to the expected level for age. This chapter discusses the methods for evaluating an individual for ID/DD. In addition, advantages, limitations, and interpretation challenges are discussed.