Probes
FGFR1/D8Z2 (8p12/8p11.1-q11.1) & FIP1L1/CHIC2/PDGFRA (4q12) & PCM1/JAK2 (8p22/9p24.1) & PDGFRB (5q32-q33)FGFR1/D8Z2 (8p12/8p11.1-q11.1) & FIP1L1/CHIC2/PDGFRA (4q12) & PCM1/JAK2 (8p22/9p24.1) & PDGFRB (5q32-q33)

Disease:
Eosinophilia, Myeloid and/or lymphoid neoplasms associated with eosinophilia and PDGFRA abberations and/or PCM1/JAK2 translocation, Kosaki Overgrowth Syndrome and Premature Aging Syndrome, Penttinen Type.

Fibroblast growth factor receptor 1 (FGFR1) is a receptor tyrosine kinase. FGFR1 overexpression or amplification in squamous cell carcinoma is associated with tumor growth. Studies have shown overexpression or amplification of FGFR1 to be vulnerable to FGFR-tyrosine kinase inhibitors and FGFR1 inhibitors maybe a promising therapeutic option and have shown tumors with FGFR1 amplification may be sensitive to FGFR1 tyrosine kinase inhibitors. Amplification of the FGFR1 gene is also associated with a poorer prognosis and likelihood of metastasis for some cancers.
4q12 Rearrangement (FIP1L1-PDGFRA) – FIP1L1-PDGFRa fusion (rearrangement of 4q12; interstitial deletion of CHIC2 region) is observed in diverse eosinophilia-associated hematologic disorders. The cases with FIP1L1-PDGFRa fusion show an excellent response to the tyrosine kinase inhibitor imatinib mesylate.
The PDGFRB gene, at 5q32, encodes for the ß chain of the cell surface receptor for platelet-derived growth factor (PDGFRß), a class III receptor tyrosine kinase (RTK) that activates signaling pathways involved in cell growth and differentiation. PDGFRB is a frequent target of chromosomal translocations in a subgroup of hematological malignancies recognized in the 2017 World Health Organization (WHO) as a stand-alone category under “Myeloproliferative neoplasms with eosinophilia and gene rearrangement”.
4q12 Rearrangement (FIP1L1-PDGFRA) – FIP1L1-PDGFRa fusion (rearrangement of 4q12; interstitial deletion of CHIC2 region) is observed in diverse eosinophilia-associated hematologic disorders. The cases with FIP1L1-PDGFRa fusion show an excellent response to the tyrosine kinase inhibitor imatinib mesylate.
Fibroblast growth factor receptor 1 (FGFR1) is a receptor tyrosine kinase. FGFR1 overexpression or amplification in squamous cell carcinoma is associated with tumor growth. Studies have shown overexpression or amplification of FGFR1 to be vulnerable to FGFR-tyrosine kinase inhibitors and FGFR1 inhibitors maybe a promising therapeutic option and have shown tumors with FGFR1 amplification may be sensitive to FGFR1 tyrosine kinase inhibitors. Amplification of the FGFR1 gene is also associated with a poorer prognosis and likelihood of metastasis for some cancers.
4q12 Rearrangement (FIP1L1-PDGFRA) – FIP1L1-PDGFRa fusion (rearrangement of 4q12; interstitial deletion of CHIC2 region) is observed in diverse eosinophilia-associated hematologic disorders. The cases with FIP1L1-PDGFRa fusion show an excellent response to the tyrosine kinase inhibitor imatinib mesylate.
PCM: *(Pericentriolar Material)The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the correct localization of several centrosomal proteins, and for anchoring microtubules to the centrosome. JAK2: Janus kinase: this gene encodes a non-receptor tyrosine kinase that plays a central role in cytokine and growth factor signalling. The primary isoform of this protein has an N-terminal FERM domain that is required for erythropoietin receptor association.
NGS MPN panel is recommended

Collection:
1~2ml in Green top (Sodium Heparin) tube OR Lavender top (EDTA) tube.

Stability:
120 Hours

Unacceptable Conditions:
DO NOT FREEZE