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Emergence of Monosomy 7 in Philadelphia-Negative Cells during MDS Development and not CML Diagnosis Proved by Serial Droplet Digital PCR

Laboratory Medicine Online 2020년 10권 4호 p.321 ~ 325
박설희, 문영철, 성주명, 허정원,
소속 상세정보
박설희 ( Park Shol-Hui ) - Ewha Womans University College of Medicine Department of Laboratory Medicine
문영철 ( Mun Yeung-Chul ) - Ewha Womans University College of Medicine Department of Internal Medicine
성주명 ( Seong Chu-Myong ) - Ewha Womans University College of Medicine Department of Internal Medicine
허정원 ( Huh Jung-Won ) - Ewha Womans University College of Medicine Department of Laboratory Medicine

Abstract


Emergence of new clonal chromosomal abnormality (CCA) has been reported in Philadelphia-negative cells in patients with chronic myeloid leukemia (CML) undergoing the tyrosine kinase inhibitor (TKI) treatment. However, the time of emergence and clinical significance of CCA remains to be elucidated. In this study, we report a CML patient undergoing TKI treatment who developed myelodysplastic syndrome (MDS) after 206 months since the diagnosis of CML. Results of droplet digital PCR performed with serial bone marrow samples revealed that monosomy 7 in Philadelphia-negative cells appeared at the time of MDS development that did not exist initially at the time of CML diagnosis.

키워드

Philadelphia-negative cell; Chronic myeloid leukemia; Monosomy 7; Droplet digital PCR; Myelodysplastic syndrome

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