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Five-year overall survival (OS) for children with B cell precursor acute lymphoblastic leukemia (B-ALL) exceeds 90% with risk-adapted therapy. Age, initial WBC count, genetic aberrations, and minimal residual disease (MRD) are used for risk stratification. Intrachromosomal amplification of a region of chromosome 21 (iAMP21; three or more extra copies of RUNX1 on an abnormal chromosome […]

Venclexta (venetoclax) has been approved by the U.S. Food and Drug Administration to treat chronic lymphocytic leukemia (CLL) characterized by a specific chromosomal abnormality, 17p deletion, in patients who have been treated with at least one prior therapy. The newly approved drug targets the B-cell lymphoma 2 protein, which promotes cancer growth and often is

PDGFB rearrangements, 22q13.1 The PDGFB gene, located at chromosome 22, encodes the human platelet-derived growth factor (PDGF) B chain precursor and is the cellular homologue of the v-sis oncogene. The reciprocal translocations involving the chromosomal region 17q21.33 harboring the COL1A1 (a.k.a. OI4) gene, and the chromosomal region 22q13.1, harboring the PDGFB (a.k.a PDGF2) gene, t(17;22)(q21.3;q13.1),

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

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

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

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