Myeloproliferative neoplasm with ETV6-ABL1 fusion: a case report and literature review.

ETV6-ABL1 is a rare gene fusion with oncogenic properties, reported so far in 28 patients presenting a variety of haematological malignancies associated with clinical outcome, including chronic myeloid leukaemia (CML), acute myeloid leukaemia (AML), acute lymphoblastic leukaemia (ALL) and chronic myeloproliferative neoplasm (cMPN). Here we report on a 46-year-old female who presented with Philadelphia negative CML, positive for the ETV6-ABL1 fusion. Whole genome screening carried out with oligonucleotide arrays showed a subtle loss at 12p13 and cryptic imbalances within the 9q34.3 region in a highly unstable genome. FISH mapping with custom BAC probes identified two breakpoints 5 Mb apart within the 9q34 region, together with a break at 12p13. While FISH with commercial BCR-ABL1 probes failed to detect any ABL1 changes, the ETV6 break-apart probe conclusively identified the ETV6-ABL1 fusion thus determining the probe's role as the primary diagnostic FISH test for this chimeric oncogene. In addition, we confirm the association of the ETV6-ABL1 fusion with imatinib resistance reported so far in three other patients, while recording excellent response to the 2nd generation tyrosine kinase inhibitor (TKI) nilotinib. In summary, we highlight the value of ETV6 FISH as a diagnostic test and the therapy resistance of ETV6-ABL1 positive disorders to imatinib.

Evaluation of potential genotoxicity of virgin olive oil (VOO) using the drosophila wing-spot test.

Edible and nonedible grades of virgin olive oil (VOO), differing in quality characteristics, were evaluated for potential genotoxicity in the Drosophila somatic mutation and recombination test (SMART) before and after heating at high temperatures. Drosophila larvae were fed on medium containing 6 and 12% v/v of each of the examined oils. Edible VOOs did not exhibit any mutagenic or recombination activity even after thermal treatment. Lower grade VOO gave negative results at the concentration of 6% and inconclusive ones at 12%. However, after its thermal treatment, a statistically significant increase of large single spots was observed, giving a positive result for this spot category at both concentrations. Evaluation of the possible contribution of olive phenolic compounds to the nongenotoxic effects observed was carried out using a polar olive leaf extract and pure oleuropein. No significant increase in the frequency of any category of mutant spots was recorded for leaf extract (0.8-12 mg of total polar phenols/dose) or pure oleuropein (0.8-8 mg/dose). These results are expected to contribute to the ongoing interest in the inherent properties of VOO as part of the everyday diet.