XL P2RY8 del
XL P2RY8 del detects deletions in the short arm of chromosome X and Y at Xp22.33 and Yp11.32, respectively. The orange labeled probe spans P2RY8 and extends distally, the green labeled probe covers the 5´end of P2RY8 and extends proximally.
Acute lymphoblastic leukemia (ALL) is the most common malignancy in children (prevalence of approximately 1:1500). Children with Down syndrome have a 10- to 20-fold increased risk of developing acute leukemia. B-Cell dependent BCR-ABL1-like ALL, also known as Philadelphia chromosome (Ph)-like ALL, is a high-risk subset with a gene expression profile that shares significant overlap with that of Ph-positive (Ph+) ALL, but lacking the BCR-ABL1 fusion. In 2017, the WHO recognized BCR-ABL1-like ALL as new entity. Chromosomal rearrangements resulting in the overexpression of cytokine receptor like factor 2 (CRLF2) can be found in up to 50% of BCR-ABL1-like ALL cases. The CRLF2 gene is located in the pseudoautosomal region 1 (PAR1) of the X and the Y chromosome. CRLF2 rearrangements result in increased protein levels, which initiate significantly enhanced JAK/STAT signaling, whereby disproportionate JAK and subsequent STAT5 activation induces strongly enhanced B-cell activation and proliferation. One of the genetic mechanisms leading to constitutive overexpression of CRLF2 is a gene fusion of CRLF2 with another PAR1 gene, purinergic receptor P2Y8 (P2RY8). The resulting P2RY8-CRLF2 fusion being under the control of the P2RY8 promoter is strongly transcribed in lymphoid cells.
XL P2RY8 del can be used to detect the presence of the P2RY8-CRLF2 fusion gene.
Cena za kus: pro registrované
Acute lymphoblastic leukemia (ALL) is the most common malignancy in children (prevalence of approximately 1:1500). Children with Down syndrome have a 10- to 20-fold increased risk of developing acute leukemia. B-Cell dependent BCR-ABL1-like ALL, also known as Philadelphia chromosome (Ph)-like ALL, is a high-risk subset with a gene expression profile that shares significant overlap with that of Ph-positive (Ph+) ALL, but lacking the BCR-ABL1 fusion. In 2017, the WHO recognized BCR-ABL1-like ALL as new entity. Chromosomal rearrangements resulting in the overexpression of cytokine receptor like factor 2 (CRLF2) can be found in up to 50% of BCR-ABL1-like ALL cases. The CRLF2 gene is located in the pseudoautosomal region 1 (PAR1) of the X and the Y chromosome. CRLF2 rearrangements result in increased protein levels, which initiate significantly enhanced JAK/STAT signaling, whereby disproportionate JAK and subsequent STAT5 activation induces strongly enhanced B-cell activation and proliferation. One of the genetic mechanisms leading to constitutive overexpression of CRLF2 is a gene fusion of CRLF2 with another PAR1 gene, purinergic receptor P2Y8 (P2RY8). The resulting P2RY8-CRLF2 fusion being under the control of the P2RY8 promoter is strongly transcribed in lymphoid cells.
XL P2RY8 del can be used to detect the presence of the P2RY8-CRLF2 fusion gene.
Cena za kus: pro registrované
