Deletion 9p23 to 9p11.1 as sole additional abnormality in a Philadelphia positive chronic myeloid leukemia in blast crisis: a rare event

Molecular Cytogenetics

Walid Al-Achkar¹  Thomas Liehr³  Adnan Ikhtiar²  Manar Asa’ad¹  Abdulsamad Wafa¹ 

[1] Department of Molecular Biology and Biotechnology, Human Genetics Division, Atomic Energy Commission, Damascus, Syria;Department of Molecular Biology and Biotechnology, Mammalians Biology Division, Atomic Energy Commission, Damascus, Syria;Institute of Human Genetics, Jena University Hospital, Jena, Germany

关键词: Prognostic factors;    CDKN2A gene;    del(9)(p24p12);    Philadelphia chromosome;    Chronic myeloid leukemia;   

Others  :  1222625
DOI  :  10.1186/s13039-015-0165-0

 received in 2015-04-15, accepted in 2015-07-18,  发布年份 2015

【 摘 要 】

Background

Chronic myeloid leukemia (CML) is a myeloproliferative disorder characterized by the presence of a derivative chromosome 22 [der(22)] commonly called Philadelphia chromosome (Ph). The Ph chromosome is a product of the reciprocal translocation t(9;22)(q34.1;q11.2). Additional genetic changes occur in less than 10 % of CML cases at the time of diagnosis and other genetic changes are seen in 60–80 % of the cases in advanced disease. Even though deletions in chromosome 9 are not rare findings in advanced phase-CML, del(9)(p23p11.1) as sole additional abnormality detected by fluorescence in situ hybridization (FISH) technique, to our knowledge has not been described in the literature.

Results

A complete cytogenetic and molecular cytogenetic analysis, molecular biology method (reverse transcription polymerase chain reaction (RT-PCR)), and immunophenotype confirmed to be a CML case in blast crisis (BC). It revealed del(9)(p23p11.1) as sole abnormality detected by FISH technique besides Ph chromosome, which leads to monoallely of tumor suppressor gene CDKN2A (cyclin-dependent kinase inhibitor 2A) before Imatinib mesylate (IM) treatment.

Conclusions

The patient did not demonstrate a good response to IM treatment. The underlying mechanisms and prognostic implications of these cytogenetic abnormalities are discussed.

【 授权许可】

   
2015 Wafa et al.

【 图 表 】

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