FGFR CDx Molecular Analysis is the first companion diagnostic test for identification of fibroblast growth factor receptor alterations in urothelial carcinoma. Patients with FGFR alterations identified by this test may be eligible for treatment with BALVERSA™ (erdafitinib) which is indicated for patients with locally advanced or metastatic urothelial carcinoma who have progressed on platinum-based chemotherapy.1

FGFR plays an important role in cell development, differentiation, survival, migration, angiogenesis and carcinogenesis2. FGFR aberrations can contribute to carcinogenic events by influencing PI3K/AKT, STAT and RAS/MAPK pathways3. FGFR3 abnormalities accounts for ~70% of non-muscle-invasive bladder cancers and 10-20% of invasive bladder cancers4. FGFR3 is considered as an important therapeutic target in both non-invasive and invasive UC5.

Alternative Name: therascreen® FGFR RGQ RT-PCR Kit

References

  1. FDA approves first targeted therapy for metastatic bladder cancer. Office Commissioner – https://www.fda.gov/news-events/press-announcements/fda-approves-first-targeted-therapy-metastatic-bladder-cancer. Accessed May 9, 2019.
  2. Helsten T, Elkin S, Arthur E, Tomson BN, Carter J, Kurzrock R. The FGFR Landscape in Cancer: Analysis of 4,853 Tumors by Next-Generation Sequencing. Clinical Cancer Research. 2015;22(1):259-267. doi:10.1158/1078-0432.ccr-14-3212.
  3. Costa R, Carneiro B, Taxter T, et.al. FGFR3-TACC3 fusion in solid tumors: mini review. Oncotarget. 2016;7(34):55924-55938. doi: 10.18632/oncotarget.10482.
  4. Chae YK, Ranganath K, Hemmerman P, et.al. Inhibition of the fibroblast growth factor receptor (FGFR) pathway: the current landscape and barriers to clinical application. Oncotarget. 2017;8(9):16052-16074. doi: 10.18632/oncotarget.14109.
  5. Williams S, Hurst C and Knowles M. Oncogenic FGFR3 gene fusions in bladder cancer. Human Molecular Genetics. 2013;22(4):795-803. doi:10.1093/hmg/dds486

The BCR-ABL MRDx® TFR Monitoring Test is a companion diagnostic for Chronic Myeloid Leukemia (CML) patients in the chronic phase (CP) being treated with nilotinib who may be candidates for treatment discontinuation and monitoring of treatment-free remission (TFR).

MRDx® is a registered trademark of MolecularMD

The presence of any of 59 possible EGFR mutations in exons 18-21 (including the T790M mutation in exon 20) is identified by real-time polymerase chain reaction.

Detects FLT3 and NPM1 mutations, which are commonly found in acute myeloid leukemia (AML). FLT3 ITD and TKD regions are analyzed by polymerase chain reaction (PCR) and fluorescent fragment size analysis. The signal ratio of the FLT3 ITD region compares the signal intensity of the mutation to the wild-type. Exon 12 of NPM1 is analyzed by PCR and fluorescent fragment size analysis to detect small insertion mutations specific to AML.

Internal Tandem Duplication (ITD) and Tyrosine Kinase Domain (TKD). FLT3 ITD and TKD regions are analyzed by polymerase chain reaction (PCR) and fluorescent fragment size analysis. The signal ratio of the FLT3 ITD region compares the signal intensity of the mutation to the wild-type.

Exon 12 of NPM1 is analyzed by polymerase chain reaction (PCR) and fluorescent fragment size analysis to detect small insertion mutations specific to AML.

Detection of gene fusion transcripts in Acute Lymphoblastic Leukemia (ALL) from ribonucleic acid (RNA). RNA is isolated from bone marrow aspirates or peripheral blood and the cDNA sequence of targeted regions of the ABL1, ABL2, BCR, CRLF2, CSF1R, ETV6, IL2RB, IL3, JAK2, KMT2A, MEF2D, MLLT10, NUP98, PAX5, PDGFRB, PTK2B, RUNX1 ,TAL1, TCF3, TLX1, TLX3, TYK2, and ZNF384 genes is determined using next-generation sequencing (NGS) technology.

KIT mutations are present in the majority of cases of mast cell disease/systemic mastocytosis. Patient DNA is isolated and subjected to allele-specific polymerase chain reaction (PCR) amplification.

When serial or subsequent COMPASS® evaluations are requested on the same patient and deemed clinically appropriate by a Genoptix Hematopathologist, Genoptix will automatically provide a CHART® report, unless otherwise indicated by the ordering physician. CHART® includes all medically necessary technologies, and a consultative review and correlation with relevant prior findings and intervening treatment by a Genoptix Hematopathologist.