PAX5 rearrangements, t(9p13) The human PAX5 (paired box gene 5) gene at chromosome 9 band p13 encodes a B-cell lineage specific activator protein (BSAP), essential in normal B-cell lymphopoiesis. PAX5 plays an important role in the generation and function of distinct mature B-cell types by controlling the identity and development of B cells (from pro-B cells […]
FOXO1 rearrangements, 13q14 The forkhead box O (FOXO) transcription factors are considered as tumor suppressors that limit cell proliferation and induce apoptosis. FOXO1 gene alterations have been described in a limited number of human cancers, such as rhabdomyosarcoma, leukemia and lymphoma. In acute and chronic myeloid leukemia FOXO1 contributes to the maintenance of leukemia-initiating cells, while in
13q14, FOXO1 (FKHR) Read More »
Malignant melanoma is sometimes difficult to distinguish from benign nevus, and ancillary confirmatory studies would be of value in selected cases. To accurately differentiate melanoma from benign nevus, the utility of chromosomal anomalies was investigated in skin biopsy specimens using multitargeted fluorescence in-situ hybridization (FISH). Skin biopsy specimens were retrospectively collected from 63 patients diagnosed
Differentiation of melanoma and benign nevi by fluorescence in-situ hybridization Read More »
Researchers examined the prognostic value of BRAF and KRAS mutations in patients with stage III colon cancer who received FOLFOX (leucovorin, fluorouracil, and oxaliplatin) with or without cetuximab. BRAF V600E and KRAS mutations were significantly associated with shorter disease-free and overall survival in patients with microsatellite-stable tumors but not in patients with microsatellite instability phenotype.
Researchers assessed the characteristics, molecular profiles, and clinical outcomes of patients with non–small cell lung cancer who were screened over the course of 1 year to determine how feasible molecular profiling is on a routine basis and what effect the screening has on outcomes. They measured the frequency of molecular alterations in six genes routinely
Deletions of chromosome 10q23, including the PTEN (phosphatase and tensin homolog) locus, are known to occur in breast cancer, but systematic analyses of its clinical relevance are lacking. Recent study analyzed a tissue microarray (TMA) with 2,197 breast cancers by fluorescence in-situ hybridization (FISH) using a PTEN-specific probe. PTEN deletions were detected in 19 % of no
Partial PTEN deletion is linked to poor prognosis in breast cancer Read More »
Recently, the American Society of Clinical Oncology and the College of American Pathologists have updated their clinical practice guidelines for HER2 testing in breast cancer. In order to evaluate these new recommendations, the HER2 status of 6018 breast cancer cases of the screening population for the HERceptin adjuvant (HERA) trial that were originally centrally tested
Loss of D13S25 locus The D13S25 locus, which is in close proximity to the retinoblastoma gene (RB1) on chromosome band 13q14, lies close to a tumour suppressor locus whose inactivation contributes to the initiation or progression of low grade B-cell malignancy. Deletions affecting the interval between the RB1 gene and marker D13S25 at band 13q14
4p16.3 region deletion Deletion in the short arm of chromosome 4 (4p16.3 region), including at least part of the LETM1 and WHSC1 genes, is responsible for Wolf-Hirschhorn syndrome (WHS). Both LETM1 (Leucine zipper-EF-hand containing TransMembrane protein 1) as WHSC1 gene (Wolf-Hirschhorn Syndrome Candidate 1) have a role in the phenotype of Wolf-Hirschhorn syndrome. Deletions greater
ZNF217 gene amplification (20q13.2) The ZNF217 gene is a suggested oncogene candidate for its role in neoplastic transformation. ZNF217 is located in 20q13.2, frequently amplified region in a wide variety of tumors. ZNF217 amplification in breast cancer is associated with tumor aggressiveness and poor clinical prognosis. Some studies have identified ZNF217 gain an important tumorigenesis prognostic
