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Microarray, gene sequencing, and reverse transcriptase-polymerase chain reaction analyses of a cryptic PML-RARA
Jason Koshy1, You-Wen Qian, Gayathri Bhagwath
1Department of Pathology, University of Texas Medical Branch at Galveston, Galveston, TX, USA.
Acute promyelocytic leukemia (APL) with a cryptic PML-RARA fusion was identified using RT-PCR when standard tests failed. SNP microarray revealed a PML gene duplication, aiding in diagnosing this rare AML subtype.
Area of Science:
- Hematology
- Molecular Genetics
- Oncology
Background:
- Acute promyelocytic leukemia (APL) is an AML subtype defined by the t(15;17) translocation.
- This translocation fuses the PML and RARA genes.
- Rare cryptic fusions may evade standard cytogenetic and FISH analyses.
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