XL t(3;3) GATA2/MECOM DF DF
XL t(3;3) GATA2/MECOM DF is designed as a dual fusion probe. The orange labeled probe spans the breakpoint at 3q26 (MECOM), the green labeled probe spans the breakpoint at 3q21 (GATA2 and RPN1).
The chromosomal aberrations inv(3)(q21q26.2) and t(3;3)(q21;q26.2) characterize a distinct entity within patients with acute myeloid leukemia (AML). Their incidence in AML is about 1-2.5% and patients have an unfavorable prognosis and low response to chemotherapy. Inv(3)/t(3;3) juxtapose the GATA2 enhancer with the MECOM locus which results in overexpression of EVI1. The EVI1 gene is located in 3q26 and is involved in hematopoietic stem cell maintenance. EVI1 is together with MDS1 located in the ´MDS1 and EVI1 complex locus´ (MECOM) and is the major player in this subtype of AML. Furthermore, structural rearrangements caused by inv(3)/t(3;3) result in reduced GATA2 expression which may contribute to the oncogenic potential of this aberration. GATA2 is located in chromosomal region 3q21 and is involved in development and proliferation of hematopoietic stem cells. Several other recurrent 3q26 rearrangements as t(3;21)(q26;q22), t(3;12)(q26;p13) and t(2;3)(p15-23;q26) are known and many more rearrangements may occur.
Cena za kus: pro registrované
The chromosomal aberrations inv(3)(q21q26.2) and t(3;3)(q21;q26.2) characterize a distinct entity within patients with acute myeloid leukemia (AML). Their incidence in AML is about 1-2.5% and patients have an unfavorable prognosis and low response to chemotherapy. Inv(3)/t(3;3) juxtapose the GATA2 enhancer with the MECOM locus which results in overexpression of EVI1. The EVI1 gene is located in 3q26 and is involved in hematopoietic stem cell maintenance. EVI1 is together with MDS1 located in the ´MDS1 and EVI1 complex locus´ (MECOM) and is the major player in this subtype of AML. Furthermore, structural rearrangements caused by inv(3)/t(3;3) result in reduced GATA2 expression which may contribute to the oncogenic potential of this aberration. GATA2 is located in chromosomal region 3q21 and is involved in development and proliferation of hematopoietic stem cells. Several other recurrent 3q26 rearrangements as t(3;21)(q26;q22), t(3;12)(q26;p13) and t(2;3)(p15-23;q26) are known and many more rearrangements may occur.
Cena za kus: pro registrované
