title: Evolutional change of karyotype with t(8;9)(p22;p24) and HLA-DR immunophenotype in relapsed acute myeloid leukemia.
abstract: The rare recurrent translocation of (8;9)(p22;p24) with PCM1-JAK2 fusion was recently characterized in diverse hematological malignancies. Most of them are atypical chronic myeloid leukemia (CML) or other myeloproliferative disorders (MPD), and are predominantly in the male. We report a female patient with acute myeloid leukemia (AML) initially presenting with normal karyotype and negative HLA-DR expression who achieved complete remission after standard chemotherapy. The disease relapsed 7 months later with cytogenetic change of t(8;9)(p22;p24). Flow cytometry analysis showed evolutional change of immunophenotype from negative to positive HLA-DR expression and fluorescence in situ hybridization (FISH) analysis demonstrated a PCM1-JAK2 fusion gene. We speculate that the cytogenetic change of t(8;9)(p22;p24) may induce HLA-DR immunophenotypic switch and a coordination of the two evolutional changes may play a role in leukemic cell progression.
authors.affiliation: Division of Oncology and Hematology, Buddhist Tzu Chi General Hospital, 707, Sec.3, Chung-Yang Rd., Hualien, Taiwan, ROC.
authors.forename: Kuan-Po
authors.initials: KP
authors.lastname: Huang
authors.affiliation: Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Chase
authors.affiliation: Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.
authors.forename: Nicholas C P
authors.initials: NCP
authors.lastname: Cross
authors.affiliation: III. Medizinische Klinik, Medizinische Fakultät Mannheim der Universität Heidelberg, Mannheim, Germany.
authors.forename: Andrea
authors.initials: A
authors.lastname: Reiter
authors.affiliation: Cytogenetics Laboratory, Center for Medical Genetics, Buddhist Tzu Chi General Hospital and Tzu Chi University, Hualien, Taiwan, ROC.
authors.forename: Tzu-Ying
authors.initials: TY
authors.lastname: Li
authors.affiliation: Division of Oncology and Hematology, Buddhist Tzu Chi General Hospital, 707, Sec.3, Chung-Yang Rd., Hualien, Taiwan, ROC.
authors.forename: Tso-Fu
authors.initials: TF
authors.lastname: Wang
authors.affiliation: Division of Oncology and Hematology, Buddhist Tzu Chi General Hospital, 707, Sec.3, Chung-Yang Rd., Hualien, Taiwan, ROC.
authors.forename: Sung-Chao
authors.initials: SC
authors.lastname: Chu
authors.affiliation: Division of Oncology and Hematology, Buddhist Tzu Chi General Hospital, 707, Sec.3, Chung-Yang Rd., Hualien, Taiwan, ROC.
authors.forename: Xuan-Yin
authors.initials: XY
authors.lastname: Lu
authors.affiliation: Division of Oncology and Hematology, Buddhist Tzu Chi General Hospital, 707, Sec.3, Chung-Yang Rd., Hualien, Taiwan, ROC.
authors.forename: Chi-Cheng
authors.initials: CC
authors.lastname: Li
authors.affiliation: Division of Oncology and Hematology, Buddhist Tzu Chi General Hospital, 707, Sec.3, Chung-Yang Rd., Hualien, Taiwan, ROC. rueyhokao@tzuchi.org.tw.|Department of Oncology, Buddhist Tzu Chi University, Hualien, Taiwan, ROC. rueyhokao@tzuchi.org.tw.
authors.forename: Ruey-Ho
authors.initials: RH
authors.lastname: Kao
mesh_terms: D001324:Autoantigens / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics*; D002869:Chromosome Aberrations; D002898:Chromosomes, Human, Pair 8; D002899:Chromosomes, Human, Pair 9; D017809:Fatal Outcome; D005260:Female; D005434:Flow Cytometry; D015973:Gene Expression Regulation, Leukemic; D006684:HLA-DR Antigens / Q000235:genetics*; D006801:Humans; D016130:Immunophenotyping; D053614:Janus Kinase 2 / Q000235:genetics*; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D012008:Recurrence; D014178:Translocation, Genetic
chemical_list: D001324:Autoantigens; D018797:Cell Cycle Proteins; D006684:HLA-DR Antigens; D015514:Oncogene Proteins, Fusion; C086074:PCM1 protein, human; C507924:JAK2 protein, human; D053614:Janus Kinase 2