TEL/ETV6-AML1/RUNX1 fusion gene, t(12;21) t(12;21)(p13;q22) reciprocal translocation is the most frequent chromosomal rearrangement in childhood B-ALL with an incidence of 25% in children (only 3% occurs in adults). The expression of the resulting fusion gene TEL-AML1 or ETV6-RUNX1, leads to expansion of the precursors of B cells giving them a great capacity for self-renewal and differentiation to mature […]
12;21 – TEL(ETV6)-AML1(RUNX1) Read More »
MLL rearrangements, (11q23) MLL/ALL1/HRX gene (11q23) encodes a 90 amino acid protein and is highly expressed in the thymus, but not in peripheral lymphoid tissues. In contrast to its restricted normal hematopoietic tissue distribution, this gene is expressed in all leukemia cell lines studied. Chromosomal rearrangements of the human MLL gene are associated with acute leukemias
Mutations in BRAF Oncogenic mutations in the BRAF gene destroy the kinase domain, which results in constitutive activation of MAPK (mitogen-activated protein kinase) route, thereby stimulating the growth of abnormal cells. Activation of the MAPK pathway also occurs as a result of somatic mutations of other oncogenes, such as N-RAS. More than 30 mutations in
CCND1 amplification, (11q13) CCND1 gene encodes the protein CD1 (Cyclin D1), wich is deregulated in cancer, together with other D-type cyclins. CCND1 is considered a phenotype and disease progression marker. CCND1 amplification is a frequent event in some types of malignant melanomas and its pattern of altered expression can influence metastatic progression and survival, associated
Loss of MYB, (6q23) The MYB gene (Avian myeloblastosis Viral Oncogene Homolog) plays an essential role in regulating hematopoiesis and may be involved in tumorigenesis. This gene was chosen as a 6q marker due to its distal location to the breakpoints on 6q (6q21). This test detects the number of copies of the MYB gene
EGFR amplification, (7p12) EGFR, also known as HER1 / ERBB1, is a member of the EGFR family that also includes HER2 / ERBB2, HER3 / ERBB3 and HER4 / ERBB4 genes. The EGFR gene encodes a transmembrane glycoprotein with tyrosine kinase activity, which presumably plays a key role in the control of cell proliferation. EGFR
TP53 mutations Mutation of one allele of the P53 gene often involves deletion of the other allele and the result is the absence of the protein. Monoallelic deletion of P53 (determined by FISH) is found in many solid tumors, including breast, lung, skin, bladder, colon, cervical, ovarian and glioblastoma, among others, in addition to various
1p/19q co-deletion 19q deletions occur in a very large number of gliomas (50-80% of cases) and often accompanied by losses at 1p level (70% of cases). Co-deletion 1p / 19q is common. This event is a favorable prognostic marker and has been very useful to enrich the histological grading of gliomas. Until recently, chemotherapy was considered ineffective. However,
SS18 (SYT) rearrangements, 18q11.2 Synovial sarcomas account for 10% of soft tissue sarcomas, which usually appear within the para-articular regions in young adults, and are characterized by a chromosomal translocation that results in expression of a chimeric transcript SYT-SSX, by usually SYT-SSX1 or SYT-SSX2. In vivo and in vitro studies have shown that fusion oncoprotein
EWS rearrangements, t(22q12) The Ewing sarcoma protein (EWS) is a well-known player in cancer biology for the specific translocations occurring in sarcomas. Translocations of the EWS gene are found in soft tissue tumors such as Ewing tumors (ET), including bone sarcoma and soft tissue sarcoma (ES), peripheral neuroectodermal primitive tumors (PNET), Askin tumors, clear cell
