profesionální vybavení genetických a cytogenetických pracovišť
SONDY  / MetaSystems / human / XL hematology

Katalogové číslo: D-5130-100-OG
Značení: Zelená Oranžová
Velikost balení: 100 µl
XL CRLF2 BA is designed as a break apart probe. The orange labeled probe hybridizes proximal to the breakpoint in the CRLF2 gene region at Xp22.33 and Yp11.32, the green labeled probe hybridizes distal to the breakpoint at Xp22.33 and Yp11.32.

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. Three genetic key mechanisms regarding CRLF2 and ALL are known. First, the CRLF2 gene is placed under the control of the IGH enhancer. Translocations of the type t(X;14) or t(Y;14) are the genetic basis for this aberration. Second, fusion of CRLF2 to CSF2RA, a further PAR1 gene, has also been described. Third, cryptic interstitial deletions juxtaposing the initial non-coding exon of the purinergic receptor P2Y8 (P2RY8) and CRLF2 have been shown. The resulting P2RY8-CRLF2 fusion being under the control of the P2RY8 promoter, is strongly transcribed in lymphoid cells. 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.
XL CRLF2 BA detects chromosomal aberrations resulting from CRLF2 gene rearrangements (deletions and translocations). XL P2RY8 del (D-5150-100-OG) can be used as an additional tool to detect the presence of the P2RY8-CRLF2 fusion gene.

Cena za kus: pro registrované