Analysis of mutations in the BCR-ABL1 kinase domain, using direct sequencing: detection of the T315I mutation in bone marrow CD34+ cells of a patient with chronic myelogenous leukemia 6 months prior to its emergence in peripheral blood
Jazyk angličtina Země Nový Zéland Médium print
Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem
- MeSH
- antigeny CD34 analýza MeSH
- bcr-abl fúzní proteiny genetika MeSH
- benzamidy MeSH
- buňky kostní dřeně cytologie enzymologie MeSH
- chronická myeloidní leukemie krev farmakoterapie genetika MeSH
- hydroxymočovina terapeutické užití MeSH
- imatinib mesylát MeSH
- lidé MeSH
- mutace MeSH
- piperaziny terapeutické užití MeSH
- progrese nemoci MeSH
- protinádorové látky terapeutické užití MeSH
- pyrimidiny terapeutické užití MeSH
- senioři MeSH
- tyrosinkinasy genetika MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
- Názvy látek
- antigeny CD34 MeSH
- bcr-abl fúzní proteiny MeSH
- benzamidy MeSH
- hydroxymočovina MeSH
- imatinib mesylát MeSH
- nilotinib MeSH Prohlížeč
- piperaziny MeSH
- protinádorové látky MeSH
- pyrimidiny MeSH
- tyrosinkinasy MeSH
BACKGROUND AND OBJECTIVE: It has been shown that the occurrence of the BCR-ABL1 T315I mutation leads to a very poor therapeutic outcome in chronic myelogenous leukemia (CML) patients treated with tyrosine kinase inhibitors. Therefore, early detection of this mutation could potentially lead to early therapeutic intervention and a better prognosis with the ongoing treatment regimen. METHODS: The detection of BCR-ABL1 kinase domain (KD) mutations was performed by direct sequencing of peripheral blood (PB), total bone marrow (BM), and BM CD34+ cells from a reported CML patient. RESULTS: In this patient, the T315I mutation was detected in BM CD34+ cells 6 months prior to its emergence in PB, suggesting evolution and expansion of the T315I mutation clone, which most likely originated from more primitive CML cells. CONCLUSION: Our finding reflects the natural development of a T315I mutation within the hematopoietic system of the reported patient and indicates the importance of BCR-ABL1 mutation monitoring in more primitive cell populations. Considering the natural history of T315I development in this reported CML case, we hypothesize that BCR-ABL1 KD mutations may be pre-concentrated in more primitive CML cells, which subsequently expand into the PB. These findings may have future implications for the strategy used for detecting BCR-ABL1 mutations.
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