Evolutional change of karyotype with t(8;9)(p22;p24) and HLA-DR immunophenotype in relapsed acute myeloid leukemia.
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.
Huang
Kuan-Po
KP
Division of Oncology and Hematology, Buddhist Tzu Chi General Hospital, 707, Sec.3, Chung-Yang Rd., Hualien, Taiwan, ROC.
Chase
Andrew J
AJ
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.
Cross
Nicholas C P
NCP
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.
Reiter
Andrea
A
III. Medizinische Klinik, Medizinische Fakultät Mannheim der Universität Heidelberg, Mannheim, Germany.
Li
Tzu-Ying
TY
Cytogenetics Laboratory, Center for Medical Genetics, Buddhist Tzu Chi General Hospital and Tzu Chi University, Hualien, Taiwan, ROC.
Wang
Tso-Fu
TF
Division of Oncology and Hematology, Buddhist Tzu Chi General Hospital, 707, Sec.3, Chung-Yang Rd., Hualien, Taiwan, ROC.
Chu
Sung-Chao
SC
Division of Oncology and Hematology, Buddhist Tzu Chi General Hospital, 707, Sec.3, Chung-Yang Rd., Hualien, Taiwan, ROC.
Lu
Xuan-Yin
XY
Division of Oncology and Hematology, Buddhist Tzu Chi General Hospital, 707, Sec.3, Chung-Yang Rd., Hualien, Taiwan, ROC.
Li
Chi-Cheng
CC
Division of Oncology and Hematology, Buddhist Tzu Chi General Hospital, 707, Sec.3, Chung-Yang Rd., Hualien, Taiwan, ROC.
Kao
Ruey-Ho
RH
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.
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
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