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Pharmacogenetics

Υγρή Βιοψία στον Καρκίνο του Πνεύμονα

  • Nov 11, 2015

Στην Κάρυο βρισκόμαστε στην ευχάριστη θέση να σας γνωστοποιήσουμε ότι στα εργαστήριά μας εφαρμόζουμε τη την πρώτη, πιστοποιημένη κατά CE-IVD μέθοδο υγρής βιοψίας cobas® EGFR Mutation Test v2. Με τη μέθοδο αυτή μπορούμε να ανιχνεύσουμε αξιόπιστα 42 μεταλλαγές του EGFR από μια απλή αιμοληψία σε ασθενείς με μη μικροκυτταρικό καρκίνο του πνεύμονα. Επιπλέον, στο απαντητικό αναφέρεται ο ημιποσοτικός δείκτης SQI, ο οποίος παρέχει τη μοναδική δυνατότητα παρακολούθησης της νόσου σε ενδιάμεσα στάδια.


EGFR Mutations in Liquid Biopsies

The first CE-IVD test for EGFR Mutations in liquid biopsies

The cobas® EGFR Mutation Test v2 CE-IVD, identifies the epidermal growth factor receptor (EGFR) gene in the DNA from non-small cell lung cancer (NSCLC) patients and is intended to be used as an aid in selecting patients with NSCLC for therapy with an EGFR tyrosine kinase inhibitor (TKI).

EGFR mutational analysis by Real-Time PCR

Approximately 10% of patients with NSCLC in the US and 35% in East Asia have tumor associated EGFR mutations. These mutations occur within EGFR exons 18–21, which encodes a portion of the EGFR kinase domain (Figure 1). EGFR mutations are usually heterozygous, with the mutant allele also showing gene amplification. Approximately 90% of these mutations are exon 19 deletions or exon 21 L858R point mutations. These mutations increase the kinase activity of EGFR, leading to hyperactivation of downstream pro-survival signaling pathways.

Ras family mutations (KRAS & NRAS)

Recent reserach indicates that the absence of activating mutations in KRAS and NRAS genes (exons 2, 3 and 4 for each gene) is necessary for the treatment of metastatic colorectal cancer with anti-EGFR antibodies.

Reference:

Peeters M, Oliner KS, Parker A, Siena S, Van Cutsem E, Huang J, Humblet Y, Van Laethem JL, André T, Wiezorek J, Reese D, Patterson SD. Massively parallel tumor multigene sequencing to evaluate response to panitumumab in a randomized phase III study of metastatic colorectal cancer. Clin Cancer Res. 2013 Apr 1;19(7):1902-12.

ALK rearrangement by F.I.S.H.

A group of patients with non-small cell lung cancer (NSCLC) have tumors that contain an inversion in chromosome 2 that juxtaposes the 5' end of the echinoderm microtubule-associated protein-like 4 (EML4) gene with the 3' end of the anaplastic lymphoma kinase (ALK) gene, resulting in the novel fusion oncogene EML4-ALK. This fusion oncogene rearrangement is transforming both in vitro and in vivo and defines a distinct clinicopathologic subset of NSCLC.

BRAF mutation analysis

General:

BRAF belongs to a family of serine-threonine protein kinases that includes ARAF, BRAF, and CRAF (RAF1). RAF kinases are central mediators in the MAP kinase signaling cascade and exert their effect predominantly through phosphorylation and activation of MEK. This occurs following the dimerization (hetero- or homo-) of the RAF molecules. As part of the MAP kinase pathway, RAF is involved in many cellular processes, including cell proliferation, differentiation, and transcriptional regulation.

DPD deficiency (DPYD)

5-Fluorouracil (5FU) is a fluorinated pyrimidine analogue commonly used in combination chemotherapy regimens for patients with breast, colorectal, lung, and other malignancies. Dihydropyrimidine dehydrogenase (DPD), an enzyme encoded by the DPYD gene, is the rate-limiting step in pyrimidine catabolism and deactivates more than 80% of standard doses of 5FU and the oral 5FU prodrug capecitabine.

TheraGuide 5-FU - Myriad

TheraGuide® 5-FU: Personalized Medicine for Customized Chemotherapy

TheraGuide® 5-FU is a blood test that enables physicians to customize chemotherapy and take action to minimize side effects.

There is tremendous benefit to identifying the risk of severe side effects before starting a 5-FU treatment. Knowing whether or not the patient is at high risk for side effects will help to make the best possible treatment decisions.

TargetPrint - Agendia

TargetPrint Provides Quantification of ER, PR and HER2 Status

TargetPrint is a microarray-based gene expression test which offers a quantitative assessment of the patient’s level of estrogen receptor (ER), progesterone receptor (PR) and HER2/neu overexpression within her breast cancer. TargetPrint is offered in conjunction with MammaPrint to provide the physician an even more complete basis for treatment decisions. 

Her-2 gene Amplification via F.Ι.S.H.

Receptor tyrosine-protein kinase erbB-2, also known as CD340 (cluster of differentiation 340), proto-oncogene Neu, Erbb2 (rodent), or ERBB2 (human) is a protein that in humans is encoded by the ERBB2 gene. The ERBB2 gene is also frequently called HER2 (from human epidermal growth factor receptor 2) or HER2/neu.

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