A Novel BCR::ABL1 Variant Detected with Multiple Testing Modalities.

Autor:	Jean, J., Sukhanova, M., Dittmann, D., Gao, J., Jennings, L. J., Langabeer, Stephen E.
Předmět:	CHRONIC myeloid leukemia CAPILLARY electrophoresis POLYMERASE chain reaction GENETIC transcription DIAGNOSIS
Zdroj:	Case Reports in Hematology; 8/16/2024, Vol. 2024, p1-5, 5p
Abstrakt:	Chronic myeloid leukemia (CML) is associated with several breakpoint regions that result in different BCR::ABL1 fusion transcripts. These include the major breakpoint region (M‐BCR), minor breakpoint region (m‐BCR), and mu breakpoint region (u‐BCR) corresponding to p210, p190, and p230 fusion transcripts, respectively. This patient is a 38‐year‐old female with a new diagnosis of CML in chronic phase. A novel p210 fusion transcript splice variant was detected with qualitative reverse transcription PCR and capillary electrophoresis. Subsequent FISH study was performed, which revealed 86.5% positive for the BCR::ABL1 fusion. Quantitative real‐time polymerase chain reaction (PCR) showed a negative result for the p210 fusion transcript. The variant was further characterized by Sanger sequencing. This variant is in‐frame and predicted to be functional. This case illustrates the need for a combination of different testing techniques to fully characterize the rare BCR::ABL1 fusion transcripts. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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