Characterization of a cryptic PML-RARA fusion by mate-pair sequencing in a case of acute promyelocytic leukemia with a normal karyotype and negative RARA FISH studies

Matthew J. SchultzDivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA;

Patrick R. BlackburnDivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA;

Christopher H. CogbillDepartment of Pathology, Gunderson Lutheran Medical Center, La Crosse, WI, USA;

Beth A. PitelDivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA;

James B. SmadbeckCenter for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Rochester, MN, USA;

Sarah H. JohnsonCenter for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Rochester, MN, USA;

George VasmatzisCenter for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Rochester, MN, USA;

Karen L. RechDivision of Hematopathology, Department of Laboratory Medicine and Genomics, Mayo Clinic, Rochester, MN, USA

William R. SukovDivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA;

Patricia T. GreippDivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA;

Nicole L. HoppmanDivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA;

Linda B. BaughnDivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA;

Rhett P. KetterlingDivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA; ;Division of Hematopathology, Department of Laboratory Medicine and Genomics, Mayo Clinic, Rochester, MN, USA

Jess F. PetersonDivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA; Correspondence[email protected]

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Disclosure statement

Algorithms described in this manuscript for mate-pair sequencing are licensed to WholeGenome LLC owned by G.V. No potential conflict of interest was reported by the other authors.

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Characterization of a cryptic PML-RARA fusion by mate-pair sequencing in a case of acute promyelocytic leukemia with a normal karyotype and negative RARA FISH studies

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Characterization of a cryptic PML-RARA fusion by mate-pair sequencing in a case of acute promyelocytic leukemia with a normal karyotype and negative RARA FISH studies

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