Jess F Peterson1, Beth A Pitel2, Stephanie A Smoley2, James B Smadbeck3, Sarah H Johnson3, George Vasmatzis3, Kathryn E Pearce2, Rong He4, Katalin Kelemen5, Hamid A B Al-Mondhiry6, Nicholas E Lamparella6, Nicole L Hoppman2, Hutton M Kearney2, Linda B Baughn2, Rhett P Ketterling7, Patricia T Greipp2. 1. Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics and Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, United States. Electronic address: peterson.jess@mayo.edu. 2. Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics and Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, United States. 3. Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Rochester, MN, United States. 4. Department of Laboratory Medicine and Pathology, Division of Hematopathology, Mayo Clinic, Rochester, MN, United States. 5. Department of Laboratory and Medicine, Division of Hematopathology, Mayo Clinic, Scottsdale, AZ, United States. 6. Department of Medicine, Division of Hematology/Oncology, Penn State Milton S. Hershey Medical Center, Hershey, PA, United States. 7. Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics and Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, United States; Department of Laboratory Medicine and Pathology, Division of Hematopathology, Mayo Clinic, Rochester, MN, United States.
Abstract
OBJECTIVES: To identify and characterize constitutional chromosomal rearrangements that mimic recurrent genetic abnormalities in acute myeloid leukemia (AML). METHODS: Bone marrow and blood chromosome studies were reviewed to identify constitutional rearrangements that resemble those designated by the 2017 revised World Health Organization (WHO) "AML with recurrent genetic abnormalities". Mate-pair sequencing (MPseq) was performed on cases with constitutional chromosome mimics of recurrent AML abnormalities to further define the rearrangement breakpoints. RESULTS: Three cases with constitutional rearrangements were identified, including t(6;9)(p23;q34), inv(16)(p13.1q22), and t(9;22)(q34.1;q12.2). Two cases were bone marrow specimens being evaluated for hematologic neoplasms, while one case was a blood specimen being evaluated for primary ovarian insufficiency. MPseq provided high-resolution and precise rearrangement breakpoints, and resolved the atypical FISH results generated with each rearrangement. CONCLUSIONS: Our findings illustrate that constitutional rearrangements can mimic recurrent genetic abnormalities observed in AML, and we emphasize the importance of correlating genetic data with clinical and hematopathologic information.
OBJECTIVES: To identify and characterize constitutional chromosomal rearrangements that mimic recurrent genetic abnormalities in acute myeloid leukemia (AML). METHODS: Bone marrow and blood chromosome studies were reviewed to identify constitutional rearrangements that resemble those designated by the 2017 revised World Health Organization (WHO) "AML with recurrent genetic abnormalities". Mate-pair sequencing (MPseq) was performed on cases with constitutional chromosome mimics of recurrent AML abnormalities to further define the rearrangement breakpoints. RESULTS: Three cases with constitutional rearrangements were identified, including t(6;9)(p23;q34), inv(16)(p13.1q22), and t(9;22)(q34.1;q12.2). Two cases were bone marrow specimens being evaluated for hematologic neoplasms, while one case was a blood specimen being evaluated for primary ovarian insufficiency. MPseq provided high-resolution and precise rearrangement breakpoints, and resolved the atypical FISH results generated with each rearrangement. CONCLUSIONS: Our findings illustrate that constitutional rearrangements can mimic recurrent genetic abnormalities observed in AML, and we emphasize the importance of correlating genetic data with clinical and hematopathologic information.
Authors: Alaa Koleilat; James B Smadbeck; Cinthya J Zepeda-Mendoza; Cynthia M Williamson; Beth A Pitel; Crystal L Golden; Xinjie Xu; Patricia T Greipp; Rhett P Ketterling; Nicole L Hoppman; Jess F Peterson; Christine J Harrison; Yassmine M N Akkari; Karen D Tsuchiya; Mary Shago; Linda B Baughn Journal: Genes Chromosomes Cancer Date: 2022-07-19 Impact factor: 4.263