(Centro Nacional de Investigaciones Oncol ó gicas (CNIO)) Researchers at the Spanish National Cancer Research Centre have discovered a genetic alteration that is directly involved in at least 10 percent of cases of one of the most common cancers in children, T-cell acute lymphoblastic leukemia. In a paper published this week in the printed edition of Genes and Development, the scientists explain how the mice in which a specific gene, known as Capicua, has been inactivated, inevitably develop this type of leukemia.
B-ALL is the most common pediatric malignancy, accounting for ∼25% of cancers before 15 years of age. It represents a heterogeneous disease with morphologically identical leukemic cells seemingly arising from different biological mechanisms. Initial workup and evaluation of B-ALL has become increasingly complex partly due to the genetic abnormalities that ar e targets for specific therapy and play an important role in monitoring residual disease. Clinical management and risk stratification depend largely on the results of chromosomal abnormalities obtained using conventional cytogenetics and FISH testing, and a testing…
Chromosome analysis and FISH demonstrate that ploidy changes, particularly gains in ploidy, are common in many tumors. However, with DNA copy number microarray or sequencing, all ploidy information is relative rather than exact. In this context, accurate ploidy assessment is based on software algorithms and the user’s experience in analysis of the data; FISH or karyotype information can serve in a supportive role for challenging cases. In rare cases of near-haploid genomes, it is more common for the predominant clone to be the doubling of the haploid line, as is the case for near-haploid acute lymphoblastic leukemia.
T-cell acute lymphoblastic leukemia (T-ALL) represents a rare hematologic malignancy with poor outcomes in both children and adults. This leukemia typically features a primary abnormality that provides maturation arrest, in addition to secondary abnormalities associated with proliferation and cell survival. The wide-ranging scale of these genomic abnormalities requires multiple technical approaches, from classical karyotyping to chromosomal microarray and molecular sequencing, which confounds and may preclude complete characterization of T-ALLs.
Background: Whole genome high density (HD) SNP microarray analysis provides valuable insights into the cancer genome, unveiling important prognostic findings and therapeutic targets.
B-cell acute lymphoblastic leukemia (B-ALL) is the most common childhood cancer. Genomic alterations in B-ALL are essential for disease diagnosis, prognosis, and treatment. We performed integrated genomic analysis on 136 pediatric B-ALL patients using the CHOP Comprehensive Hematological Cancer NGS Panel along with conventional cytogenetic studies. The panel interrogates 118 cancer genes for sequence and copy number variants (CNV) and 110 genes for known and novel fusions. Clinically significant genomic changes were identified in 89.7% of patients.
Contributors : Stefan Feske ; Shella S FleurSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusT-cell acute lymphoblastic leukemia (T-ALL) is a malignancy of T cell progenitors that in most patients is associated with activating mutations in the NOTCH1 pathway. Recent reports have indicated a link between Ca2+ homeostasis in the endoplasmic reticulum (ER), the regulation of NOTCH1 signaling and T-ALL. Here we investigated the role of store-operated Ca2+ entry (SOCE) in T-ALL. SOCE is a Ca2+ influx pathway that is mediated by the plasma membrane Ca2+ channel ORAI1 and its activators STIM1…
AbstractEarly detection of cancer can increase patients ’ survivability and treatment options. Medical images such as Mammogram, Ultrasound, Magnetic Resonance Imaging, and microscopic images are the common method for cancer diagnosis. Recently, computer-aided diagnosis (CAD) systems have been used to help physicians in cancer diagnosis so that the dia gnosis accuracy can be improved. CAD can help in decreasing missed cancer lesions due to physician fatigue, reducing the burden of workload and data overloading, and decreasing variability of inter- and intra-readers of images. In this research, a framework of CAD syst…
ConclusionDue to the frequent delay in HSV diagnosis and the safety of acyclovir, we recommend empirically administering acyclovir in patients suspected of HSV hepatitis.
ConclusionThe frequency of most chromosomal rearrangements successfully identified in our study and their lineage correlated with those reported in the published data.
Publication date: October 2018Source: Cancer Genetics, Volumes 226–227Author(s): Nadine Berry, Rodney J. Scott, Rosemary Sutton, Toby N. Trahair, Philip Rowlings, Anoop K. Enjeti