Chromosome 12 trisomy Trisomy of chromosome 12 is the most common chromosomal aberration found in CLL. The clinical and biological characteristics of CLL +12 are high rates of cell proliferation and progression of the disease, lymph node involvement and predisposition to Richter syndrome. It has been described recently the overexpression of CD49d in over 40% […]
MYD88 L265P mutation MYD88 L265P mutation appears to be the most frequent mutation described to date in WM (91% of cases). MYD88 L265P mutation may be considered as the first genetic hit in Waldeström Macroglobulinemia that promotes NF-κB and JAK-STAT3 signaling and subsequently initiates alteration of major pathways, such as apoptotic pathways. The diagnostic discrimination of
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.
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
