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PML‐RARA fusion resulting from a cryptic insertion of RARA gene into PML gene without the reciprocal RARA‐PML fusion: clinical, cytogenetic, and molecular characterization and prognosis

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We describe a case of acute promyelocytic leukemia in a 61‐yr‐old woman with a cryptic insertion of RARA gene into PML gene. Using a combination of cytogenetic and molecular methods, we confirmed the insertion and presence of the PML‐RARA transcript and lack of the reciprocal RARA‐PML transcript. Although such cryptic insertions leading to a PML‐RARA fusion have been previously reported, we show that such variant insertions, based on our case, appear to have the same prognostic significance as the classical t(15;17)(q22;q21).
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Keywords: acute promyelocytic leukemia; cryptic PML‐RARA; fluorescence in situ hybridization; karyotype; reverse transcriptase‐polymerase chain reaction

Document Type: Research Article

Publication date: October 1, 2014

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