A novel dic (17;18) (p13.1;q11.2) with loss of TP53 and BCR/ABL rearrangement in an Imatinib resistant chronic myeloid leukemia

作者：Al achkar Walid^*; Wafa Abdulsamad; Moassass Faten; Othman Moneeb Abdullah Kassem

来源：Molecular Cytogenetics, 2012, 5: 36.

DOI：10.1186/1755-8166-5-36

• Dic (17
• 18)
• Chronic myeloid leukemia (CML)
• TP53 gene
• T315I
• Fluorescence in situ hybridization (FISH)
• Reverse transcription polymerase chain reaction (RT-PCR)
• Imatinib resistant

Background: The so-called Philadelphia (Ph) chromosome is present in more than 90% of chronic myeloid leukemia (CML) cases. It results in juxtaposition of the 50 part of the BCR gene on chromosome 22 to the 30 part of the ABL gene on chromosome 9. Since the majority of CML cases are currently treated with Imatinib, variant rearrangements in general have no specific prognostic significance, although the mechanisms involved in resistance to therapy have yet to be investigated. The T315I mutation within the abl-gene is the most frequent one associated with resistance to tyrosine kinase inhibitors. %26lt;br%26gt;Results: This study evaluated a Ph chromosome positive CML case resistant to imatinib mesylate. A dic(17;18), loss of TP53 gene, co-expression of b2a2 and b3a2 fusions transcript and a T315I mutation were found. %26lt;br%26gt;Conclusions: We reported here a novel case of a Ph chromosome positive CML with a secondary abnormality [dic(17;18)], resulting to Glivec resistance but good response to nilotinib. The dic(17;18) might be a marker for poor prognosis in CML. Our finding indicated for an aggressive progression of the disease. The patient died under the treatment due to unknown reasons.

• 出版日期2012-8-20