[Chronic myeloid leukemia onset with marked thrombocythemia].
This study was aimed to investigate the clinical, pathological and biological features of a special case of chronic myeloid leukemia (CML) with marked thrombocythemic onset. The morphological changes of cells were analyzed by using bone marrow smear and biopsy; Ph chromosome, a specific marker of CML, was assayed by conventional chromosomal analysis and fluorescence in situ hybridization, bcr/abl fusion gene was detected by reverse transcription-polymerase chain reaction. The results indicated that CML mimicked essential thrombocythemia (ET) at presentation was relatively rare and might be misdiagnosed as ET, bone marrow smear and biopsy revealed, marked thrombocytosis and moderate leukocytosis; RT-PCR, FISH and conventional chromosomal analysis demonstrated the existence of Ph chromosome and bcr/abl fusion gene. This special CML could progress into accelerated phase or blast crisis. The megakaryocytes in Ph+ ET were smaller than normal ones and had typically hypolobulated round nuclei. Patients diagnosed as Ph+ ET might progress into CML and showed a high tendency to myelofibrosis and blastic transformation. It is concluded that the value of routine cytogenetical and molecular biological analysis in diagnosis for potential CML cases, which mimicked ET as in this presentation, is very distinctive, and the importance is magnified by the recent availability of imatinib, a specific inhibitor of the bcr/abl tyrosine kinase produced by the Philadelphia chromosome. Every case of "ET" should be tested for the Philadelphia chromosome and bcr/abl transcript.
Shen
Qun
Q
Department of Molecular Toxicology, College of Public Health, Nanjing Medical University, Nanjing 210029, China. shenq@med-mail.com.cn
Zhou
Jian-Wei
JW
Zhu
Guang-Rong
GR
Yang
Yue-Yan
YY
Qiu
Hai-Rong
HR
Zhu
Guang-Rong
GR
Xia
Wen
W
Jiang
Peng-Jun
PJ
D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D008533:Megakaryocytes / Q000473:pathology / Q000648:ultrastructure; D010677:Philadelphia Chromosome; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013920:Thrombocythemia, Essential / Q000175:diagnosis*
D016044:Fusion Proteins, bcr-abl