Oncology  

Pharmacogenetic tests used in oncology can be divided in 2 groups:

  1. Tests determining the toxicity of chemotherapeutics such as 5-Fluorouracil, Irinotecan and Thiopurine.
    Such toxicity is caused by mutations in the genes encoding Dihydropyrimidine Dehydrogenase, UDP-Glycuronosyl transferase or Thiopurine S-Methyltransferase, respectively.
  2. Tests determining the response to the treatment with specific tyrosine kinase inhibitors (TKIs).
    Such response is determined by mutations in specific tyrosine kinase genes. Only patients with a mutation in the specific tyrosine kinase will respond to treatment with the specific TKI.
    Also the development of resistance against TKIs is genetically determined by mutations in the tyrosine kinase genes.

The most prominent examples of pharmacogenetic tests used in oncology are given below.


These tests require samples specified in the column: Tissue

Test
Disease
Gene
Tissue
Test Number
5-FLUORO URACIL TOXICITY VARIOUS  ALLELE 2A (IVS14+1G-A) IN DPD (DIHYDROPYRIMIDINE DEHYDROGENASE) DNA 1
ALLELES *3,*4, *5A, *7, *8, *9, *10, *12, *13, M166V, R886H, D949V IN DPD (DIHYDROPYRIMIDINE DEHYDROGENASE) DNA 2
IRINOTECAN TOXICITY
VARIOUS TA INSERTION IN PROMOTOR OF UGT1A1  (UDP-GLYCURONOSYL TRANSFERASE) DNA 3
THIOPURINE TOXICITY
VARIOUS ALLELES 1, 2, 3A, 3C IN TMPT (THIOPURINE S-METHYLTRANSFERASE) DNA 4
HERCEPTIN RESPONSIVENESS BREAST CANCER HER2 / NEU OVEREXPRESSION PARAFFINISED BREAST TUMOUR TISSUE 5
GLEEVEC / IMATINIB RESPONSIVENESS CHRONIC MYELOGENOUS LEUKEMIA (CML) AND ACUTE LEUKEMIA EXONS 4-10 MUTATIONS IN ABL (INCLUDING T315I) BLOOD OR BONE MARROW IN PAX RNA TUBES 6
GLEEVEC / IMATINIB RESPONSIVENESS CHRONIC MYELOGENOUS LEUKEMIA (CML) AND ACUTE LEUKEMIA FUSION OF ABL TO BCR BLOOD OR BONE MARROW IN PAX RNA TUBES 7
GLEEVEC / IMATINIB RESPONSIVENESS ACUTE LEUKEMIA FUSION OF PDGFRB TO TEL/ETV6 BLOOD OR BONE MARROW IN PAX RNA TUBES 8
GLEEVEC / IMATINIB RESPONSIVENESS HYPEREOSINOPHILIC SYNDROME FUSION OF PDGFRB TO TEL/ETV6 BLOOD OR BONE MARROW IN PAX RNA TUBES 8
GLEEVEC / IMATINIB RESPONSIVENESS HYPEREOSINOPHILIC SYNDROME del(4)(q12q12) WITH FIP1L1-PDGFRA FUSION BLOOD OR BONE MARROW IN PAX RNA TUBES 9
GLEEVEC / IMATINIB RESPONSIVENESS CHRONIC EOSINOPHILIC LEUKEMIA del(4)(q12q12) WITH FIP1L1-PDGFRA FUSION BLOOD OR BONE MARROW IN PAX RNA TUBES 9
GLEEVEC / IMATINIB RESPONSIVENESS ACUTE MYELOID LEUKEMIA MUTATIONS IN EXONS 8, 11 AND 17 IN KIT WHOLE BLOOD, BONE MARROW ASPIRATE OR PARAFFIN-EMBEDDED BIOPSY 10
GLEEVEC / IMATINIB RESPONSIVENESS MASTOCYTOSIS MUTATIONS IN EXON 17 IN KIT PARAFFINISED TUMOUR TISSUE 11
GLEEVEC / IMATINIB RESPONSIVENESS MAST CELL LEUKEMIA MUTATIONS IN EXON 17 IN KIT WHOLE BLOOD, BONE MARROW ASPIRATE OR PARAFFIN-EMBEDDED BIOPSY 11
GLEEVEC / IMATINIB RESPONSIVENESS GASTROINTESTINAL STROMAL TUMOR, GIST MUTATIONS IN EXONS 9, 11, 13 AND 17 IN KIT PARAFFINISED TUMOUR TISSUE 12
GLEEVEC / IMATINIB RESPONSIVENESS GASTROINTESTINAL STROMAL TUMOR, GIST MUTATIONS IN EXONS 12 AND 18 IN PDGFRA PARAFFINISED TUMOUR TISSUE 13
IRESSA / GEFITINIB RESPONSIVENESS NON SMALL CELL LUNG CANCER (NSCLC) EXON 18-21 MUTATIONS IN EGFR (EPIDERMAL GROWTH  FACTOR RECEPTOR) FRESH TISSUE (ETHANOL-FIXED TISSUE) 14
VARIOUS FLT3 INHIBITORS
ACUTE MYELOID LEUKEMIA ACTIVATING MUTATION (INTERNAL TANDEM DUPLICATION) IN FLT3 (RECEPTOR TYROSINE KINASE) BLOOD OR BONE MARROW 15
VARIOUS FLT3 INHIBITORS
ACUTE MYELOID LEUKEMIA ACTIVATING MUTATIONS IN EXON 14 IN FLT3 (RECEPTOR TYROSINE KINASE) BLOOD OR BONE MARROW 16
BETA2-AGONISTS RESPONSE VARIOUS R16G AND Q27E MUTATIONS IN ADRB2 DNA 18

ABACAVIR TOXICITY

VARIOUS

HLA-B*5701

DNA 19


 



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