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Identification of a Cryptic t(8;20;21)(q22;p13;q22) Resulting in RUNX1T1/RUNX1 Fusion in a Patient with Newly Diagnosed Acute Myeloid Leukemia.
Macke, Erica L; Meyer, Reid G; Hoppman, Nicole L; Ketterling, Rhett P; Greipp, Patricia T; Xu, Xinjie; Baughn, Linda B; Shafer, Danielle A; He, Rui R; Peterson, Jess F.
Afiliación
  • Macke EL; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, US.
  • Meyer RG; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, US.
  • Hoppman NL; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, US.
  • Ketterling RP; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, US.
  • Greipp PT; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, US.
  • Xu X; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, US.
  • Baughn LB; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, US.
  • Shafer DA; Inova Schar Cancer Institute, Inova Fairfax Hospital, Falls Church, Virginia, US.
  • He RR; Department of Pathology, Inova Fairfax Hospital, Falls Church, Virginia, US.
  • Peterson JF; Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, US.
Lab Med ; 53(4): e87-e90, 2022 Jul 04.
Article en En | MEDLINE | ID: mdl-34791328
The detection of recurrent genetic abnormalities in acute myeloid leukemia (AML), including RUNX1T1/RUNX1 gene fusion, is critical for optimal medical management. Herein, we report a 45 year old woman with newly diagnosed AML and conventional chromosome studies that revealed an apparently balanced t(8;20)(q22;p13) in all 20 metaphases analyzed. A RUNX1T1/RUNX1 dual-color dual-fusion fluorescence in situ hybridization (FISH) probe set was subsequently performed and revealed a RUNX1T1/RUNX1 gene fusion. Metaphase FISH studies performed on abnormal metaphases revealed a cryptic, complex translocation resulting in RUNX1T1/RUNX1 fusion, t(8;20;21)(q22;p13;q22). This case study shows the importance of performing FISH studies or other high-resolution genetic testing concurrently with conventional chromosome studies for the detection of cryptic recurrent gene fusions in AML, particularly a focused genetic evaluation such as RUNX1T1/RUNX1 gene fusion, when specific abnormalities involving 8q22 are identified.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Leucemia Mieloide Aguda / Subunidad alfa 2 del Factor de Unión al Sitio Principal Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Lab Med Año: 2022 Tipo del documento: Article Pais de publicación: Reino Unido
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Leucemia Mieloide Aguda / Subunidad alfa 2 del Factor de Unión al Sitio Principal Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Lab Med Año: 2022 Tipo del documento: Article Pais de publicación: Reino Unido