October 29, 2015

13q14, RB1

Loss of 13q14 region Loss of 13q14 band on chromosome 13 is the most common genetic abnormality in chronic lymphocytic leukemia (CLL), but the underlying molecular aberrations (13q14) have not yet been characterized. 13q14 deletion, del(13q14), is a heterogeneous alteration and is composed of multiple subtypes, which influence the biology and prognosis of the CLL. […]

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inv16, CBFB/MYH11

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

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17q21, RARa

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

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15;17 – PML/RARa

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

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8;21 – AML1/ETO

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

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