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High-level MYCN amplification (MNA) is associated with poor outcome and unfavorable clinical and biological features in patients with neuroblastoma. Actual knowledge regarding these associations in patients with low-level MYCN copy number increases is less known. In a retrospective study, the authors classified patients has having tumors with MYCN wild-type tumors, MYCN gain (2-4-fold increase in MYCN signal compared with the reference probe), or MNA (>4-fold increase). Tests of trend were used […]

The U.S. Food and Drug Administration has approved Idhifa (enasidenib) for the treatment of adult patients with relapsed or refractory acute myeloid leukemia (AML) who have a specific genetic mutation. The drug is approved for patients with relapsed or refractory AML who have specific mutations in the IDH2 gene. AML is a rapidly progressing cancer

To further unravel the molecular pathogenesis of diffuse large B-cell lymphoma (DLBCL), a high-resolution comparative genomic hybridization on lymph node biopsies from 70 patients was performed. With this strategy, microdeletions of genes involved in the mutation mismatch repair (MMR) pathway were identified in two samples. The first patient presented a homozygous deletion of MSH2-MSH6 due

In a significant percentage of advanced NSCLC patients, tumor tissue is unavailable or insufficient for genetic analyses. A prospective study was designed to evaluate use of circulating free DNA (cfDNA) purified from blood of patients with advanced NSCLC to detect mutations of EGFR. Patients treated with EGFR inhibitors based on mutations detected by cfDNA were found to

Women with hereditary BRCA1/2 mutations have an increased lifetime risk of developing breast cancer and ovarian cancer. With increased availability and affordability of testing, more women are being informed that they are mutation carriers. It is therefore critical to counsel them correctly as to their risk of developing these diseases and the timing of risk-reducing

About 5% of cases of non-small-cell lung cancer are ALK-positive. Crizotinib has been the first medicine to target ALK specifically. It was approved by the FDA in 2011. Though the majority of patients benefit from crizotinib initially, the cancer typically progresses within a year. The newer anaplastic lymphoma kinase (ALK) inhibitor Alectinib has been shown

The ability to test for and detect prostate cancer with minimal invasiveness has the potential to reduce unnecessary prostate biopsies. A recent study was conducted as part of a clinical investigation for the development of an FISH probe panel on urine samples for more accurate detection of prostate cancer. Chromosomes Y, 7, 10, 20, 6,

On a recent study that analyzed patients between 17 and 93 years of age (N = 1592), who were participants in the ECOG-ACRIN trials, the influence of the most common monosomies (5, 7, and 17) within monosomal karyotype (MK+)/complex karyotype (CK+) acute myeloid leukemia (AML) was investigated. Most MK+ patients (93%) were found to be

A group of researchers investigated if detection of circulating tumor DNA (ctDNA) after resection of colorectal cancer (CRC) identifies the patients with the highest risk of relapse, and furthermore, whether longitudinal ctDNA analysis allows early detection of relapse and informs about response to intervention. During this longitudinal cohort study massively parallel sequencing (NGS)  was used

The cell cycle–related genes AURORA A and Forkhead box M1 (FOXM1) are overexpressed in melanoma. AURKA overexpression was associated with poor prognosis in three independent cohorts of melanoma patients and correlates with the presence of genomic amplification of AURKA locus and BRAFV600E mutation. Activated MAPK-ERK signalling pathway mediates robust AURKA promoter activation, thereby knockdown of