Constitutional chromosome rearrangements that mimic the 2017 world health organization "acute myeloid leukemia with recurrent genetic abnormalities": A study of three cases and review of the literature.
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.
Published In/Presented At
Peterson, J. F., Pitel, B. A., Smoley, S. A., Smadbeck, J. B., Johnson, S. H., Vasmatzis, G., Pearce, K. E., He, R., Kelemen, K., Al-Mondhiry, H., Lamparella, N. E., Hoppman, N. L., Kearney, H. M., Baughn, L. B., Ketterling, R. P., & Greipp, P. T. (2019). Constitutional chromosome rearrangements that mimic the 2017 world health organization "acute myeloid leukemia with recurrent genetic abnormalities": A study of three cases and review of the literature. Cancer genetics, 230, 37–46. https://doi.org/10.1016/j.cancergen.2018.11.005
Medicine and Health Sciences | Oncology
Peer Reviewed for front end display
Department of Medicine, Hematology-Medical Oncology Division, Department of Medicine Faculty