A chronic myeloid leukemia case with a variant translocation t(11;22)(q23;q11.2): masked Philadelphia or simple variant translocation?
| Autor: | Acar, Kadir, Uz, Burak |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Adult
Male masked Philedelphia chromosome variant translocation Fusion Proteins bcr-abl Case Report Antineoplastic Agents Cronic myeloid leukemia Translocation Genetic imatinib mesylate Karyotyping Leukemia Myelogenous Chronic BCR-ABL Positive hemic and lymphatic diseases Humans Philadelphia Chromosome neoplasms nilotinib In Situ Hybridization Fluorescence |
| Zdroj: | Pan African Medical Journal; Vol. 30 No. 1 (2018) The Pan African Medical Journal |
| ISSN: | 1937-8688 |
| Popis: | Chronic myeloid leukemia (CML) is characterized by the presence of the Philadelphia chromosome (Ph), usually due to a reciprocal translocation, t(9;22)(q34;q11.2). The remaining cases (2-10%) have variant translocation, and more rarely (~1%) a cryptic rearrangement is present which can be detected by fluorescence in situ hybridization analysis in a CML patient with a Ph-negative karyotype (Masked Ph). We present a masked/variant BCL-ABL-positive CML patient showing a t(11;22)(q23;q11.2) which was detected using a combined approach of conventional cytogenetics and reverse transcription polymerase chain reaction. In February 2013, the patient was diagnosed as having CML. Imatinib mesylate (400 mg/day), was then started. Under imatinib therapy a complete hematologic and cytogenetic response was attained. In December 2013, an increment in BCR-ABL/ABL transcript levels according to the International Scale (from 0.0471% to 1.4034%), indicating imatinib failure, was documented. Administration of nilotinib (400 mg twice daily) resulted in durable molecular response after 3 months. The patient is still on nilotinib treatment throughout the observation period with no sign of recurrence and adverse events. |
| Databáze: | OpenAIRE |
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