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Rhabdomyosarcomas are a heterogeneous group of malignant tumors showing skeletal muscle differentiation. They can be divided into 3 subtypes: alveolar, embryonal, and pleomorphic. The rarer alveolar rhabdomyosarcomas (ARMS) are seen in older children, are more likely to occur in limbs, and are associated with higher stage disease and an unfavorable prognosis. Chromosomal rearrangements involving the […]

DDIT3 is a C/EBP-family transcription factor implicated in adipocyte differentiation. Chromosomal rearrangements involving the DDIT3 gene, located on chromosome 12q13, are common in myxoid liposarcomas (MLS) and have also been identified in round cell (RC) and mixed liposarcomas (combined myxoid and round cell). A unique translocation t(12;16)(q13;p11) results in transcriptional deregulation of the DDIT3 gene,

Pancreatobiliary cancer is detected by fluorescence in situ hybridization (FISH) of pancreatobiliary brush samples with UroVysion probes, originally designed to detect bladder cancer. A group of researchers (Barr Fritcher, E.G. 2015) tested a set of FISH probes on tumor tissues (cholangiocarcinoma or pancreatic carcinoma) and non-tumor tissues from 29 patients. The combination of FISH probes

A retrospective-prospective analysis of a phase 3 randomized trial (Peeters, M. et al. 2015) examined the influence of extended RAS mutation evaluation on second-line efficacy of fluorouracil, leucovorin, and irinotecan (FOLFIRI) plus panitumumab or FOLFIRI alone in 1186 patients with metastatic colorectal cancer (mCRC). RAS mutations beyond KRAS exon 2 (KRAS exons 3, 4, NRAS

MMR genes mutations (PMS2) PMS2 (postmeiotic Segregation Increased 2) gene, located on 7p22.2, encodes the PMS2 protein that binds to the MLH1 protein to form a protein complex involved in repairing of DNA replication errors. Mutations of this gene have been found in 2% of patients with Lynch syndrome.

MMR genes mutations (MSH6) MSH6 gene (MutS homolog 6), located on 2p16, encodes a protein that forms a complex with the MMR genes encoded proteins, which coordinates the activity of other proteins that repair DNA replication errors. MSH6 protein binds to the MSH2 protein to form an active complex, if are mutations the abnormal protein

MMR genes mutations (MSH2) MSH2 (MutS, homolog 2) gene located on region 2p21, leads a protein that coordinates DNA repair function in a similar way as described for the MLH1 gene. MSH2 protein binds to two other proteins, MSH6 and MSH3, and the complex coordinates the action of other repair proteins, as described for the

Mutations in MMR genes (MLH1) MLH1 (mutL Homology 1) gene, located on 3p21.3, encodes a protein that plays an essential role in DNA repair. MLH1 protein forms a complex with the protein encoded by the PMS2 gene, and the active complex coordinates the activities of other proteins that repair errors made during DNA replication. More

Lynch syndrome 4 gene panel Hereditary nonpolyposis colon carcinoma (HNPCC) or Lynch syndrome is formally defined molecularly as germline mutations usually identified in any of the four MMR genes: MLH1, MSH2, MSH6 and PMS2; with 90% of the mutations involved in MLH1 (50%) or MSH2 (40%). An accurate molecular diagnosis can help determine if a

Familial adenomatous polyposis 2 genes panel The hereditary nonpolyposis colon cancer, also called familial adenomatous polyposis (FAP) represents nearly 1% of colorectal carcinomas and do not has a characteristic autosomal inheritance pattern. The molecular diagnosis of FAP and AFAP is based on the search for mutations or deletions in the APC gene and / or