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inv(16)(p13;q22) and (16;16)(p13;q22) rearrangement inv(16)(p13q22) and t(16;16)(p13;q22) alterations are recurrent chromosomal rearrangements commonly associated with subtypes of AML (M4Eo, M2, M5) and in patients with high risk of MDS. inv(16)(p13q22) fuses CBFB gene (16q22) with MYH11 gene (16p13) resulting in a chimeric protein, CBFB-MYH11. The fusion protein CBFB-MYH11 blocks the process of cell differentiation in […]

RARa (17q21) gene atypical rearrangements In 10% of AML (M3) cases the translocation t(15;17)(q22;q12) is not found and RARa gene fuses with other genes, such as PLZF in the t(11;17)(q23q21), NPM1 in the t(5;17), NuMA in the t(11;17)(q13q21), FIPIL1 in t(4;17), BCOR in the t(X;17), and PRKAR1A or STAT5b in 17q rearrangements. The most common of

RARa (17q21.1) gene and PML (15q22) gene rearrangements, t(15;17)(q22;q21.1) RARa (17q21) gene encodes protein called retinoic acid receptor alpha, which acts as a nuclear receptor by binding specifically to DNA sequences controlling the transcription of genes important in the maturation (differentiation) of promyelocytes. Acute promyelocytic leukemia M3 subtype (AML M3) is characterized by a clonal

t(12;21)(p13;q22)  reciprocal translocation, AML1/ETO fusion gene Translocation t(8;21)(q22;q22) involves the AML1 gene, also known as RUNX1, and gene ETO, and is one of the genetic alterations found more often in childhood acute myeloblastic leukemias (AML). The frequency of this alteration in the AML-M2 subtype approaches 40%. The AML1/ETO fusion gene transcript is detected in AML patients

Deletion of 5q, del(5q) Partial or complete deletion of the long arm of chromosome 5 [del(5q)], with or without additional karyotypic abnormalities, is present in 10-15% of myelodysplastic syndromes (MDS). Anemia in these MDS responds less often to erythroblastic stimulating agents. However, immunomodulatory, anti-cytokine, and anti-angiogenic agent Lenalidomide (CC5013) leads to red blood cells transfusion

Deletions in 1p and amplifications in 1q Chromosome 1 aberrations are the most common structural aberrations in MM and mostly involve deletions in 1p and amplifications in 1q. The deletions of 1p are mainly interstitial deletions and are associated with a poor prognosis. Chromosome 1 aberrations involving the q arm are particularly complex and tend

FUS rearrangements (16p11) The FUS gene, located on chromosome 16p11, consists of 15 exons located within 11 kb of genomic DNA, and the exon 1 contains a 72-bp untranslated region and the translation initiation codon.  The FUS protein contains an RNA-recognition motif and is a component of nuclear riboprotein complexes. Chromosomal rearrangements involving the FUS

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