Coexistence of P190 BCR/ABL transcript and CALR 52-bp deletion in chronic myeloid leukemia blast crisis: a case report
We present a case of a 78-year-old woman presented with thrombocytosis and high blast count, who had a history of splenectomy. Her cytogenetic analysis revealed aberrant chromosomal rearrangements in different clonal populations harboring 46XX karyotype with t(9;22)(q34;q11). RT-PCR assay detected t...
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| Format: | Article |
| Language: | English |
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PAGEPress Publications
2016-01-01
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| Series: | Mediterranean Journal of Hematology and Infectious Diseases |
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| Online Access: | http://www.mjhid.org/index.php/mjhid/article/view/2432 |
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| author | najmaldin saki Mohammad Seghatoleslami Neda Ketabchi Alireza Ordo Javad Mohammadi-Asl Neda Golchin |
| author_facet | najmaldin saki Mohammad Seghatoleslami Neda Ketabchi Alireza Ordo Javad Mohammadi-Asl Neda Golchin |
| author_sort | najmaldin saki |
| collection | DOAJ |
| description | We present a case of a 78-year-old woman presented with thrombocytosis and high blast count, who had a history of splenectomy. Her cytogenetic analysis revealed aberrant chromosomal rearrangements in different clonal populations harboring 46XX karyotype with t(9;22)(q34;q11). RT-PCR assay detected the e1a2 BCR-ABL translocation resulting from a rearrangement of the minor breakpoint cluster region (m-bcr) in the BCR gene. Subsequent evaluations of the disease showed calreticulin (CALR) 52-bp deletion as well as the absence of JAK2V617F heterozygous mutation in granulocyte population of peripheral blood using allele-specific PCR and bi-directional DNA sequencing. To our knowledge, this is the first case of a patient initially diagnosed as p190 BCR-ABL transcript positive CML in blastic crisis characterized with a 52-bp deletion in CALR gene. |
| format | Article |
| id | doaj-art-642d923756e14ccb8de390c14cda1b0d |
| institution | Kabale University |
| issn | 2035-3006 |
| language | English |
| publishDate | 2016-01-01 |
| publisher | PAGEPress Publications |
| record_format | Article |
| series | Mediterranean Journal of Hematology and Infectious Diseases |
| spelling | doaj-art-642d923756e14ccb8de390c14cda1b0d2025-01-02T00:37:31ZengPAGEPress PublicationsMediterranean Journal of Hematology and Infectious Diseases2035-30062016-01-0180e2016002e201600210.4084/mjhid.2016.0021596Coexistence of P190 BCR/ABL transcript and CALR 52-bp deletion in chronic myeloid leukemia blast crisis: a case reportnajmaldin saki0Mohammad SeghatoleslamiNeda KetabchiAlireza OrdoJavad Mohammadi-AslNeda GolchinHealth research institute, Research Center of Thalassemia & Hemoglobinopathy, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.We present a case of a 78-year-old woman presented with thrombocytosis and high blast count, who had a history of splenectomy. Her cytogenetic analysis revealed aberrant chromosomal rearrangements in different clonal populations harboring 46XX karyotype with t(9;22)(q34;q11). RT-PCR assay detected the e1a2 BCR-ABL translocation resulting from a rearrangement of the minor breakpoint cluster region (m-bcr) in the BCR gene. Subsequent evaluations of the disease showed calreticulin (CALR) 52-bp deletion as well as the absence of JAK2V617F heterozygous mutation in granulocyte population of peripheral blood using allele-specific PCR and bi-directional DNA sequencing. To our knowledge, this is the first case of a patient initially diagnosed as p190 BCR-ABL transcript positive CML in blastic crisis characterized with a 52-bp deletion in CALR gene.http://www.mjhid.org/index.php/mjhid/article/view/2432Chronic myeloid leukemia, BCR-ABL, Calreticulin. |
| spellingShingle | najmaldin saki Mohammad Seghatoleslami Neda Ketabchi Alireza Ordo Javad Mohammadi-Asl Neda Golchin Coexistence of P190 BCR/ABL transcript and CALR 52-bp deletion in chronic myeloid leukemia blast crisis: a case report Mediterranean Journal of Hematology and Infectious Diseases Chronic myeloid leukemia, BCR-ABL, Calreticulin. |
| title | Coexistence of P190 BCR/ABL transcript and CALR 52-bp deletion in chronic myeloid leukemia blast crisis: a case report |
| title_full | Coexistence of P190 BCR/ABL transcript and CALR 52-bp deletion in chronic myeloid leukemia blast crisis: a case report |
| title_fullStr | Coexistence of P190 BCR/ABL transcript and CALR 52-bp deletion in chronic myeloid leukemia blast crisis: a case report |
| title_full_unstemmed | Coexistence of P190 BCR/ABL transcript and CALR 52-bp deletion in chronic myeloid leukemia blast crisis: a case report |
| title_short | Coexistence of P190 BCR/ABL transcript and CALR 52-bp deletion in chronic myeloid leukemia blast crisis: a case report |
| title_sort | coexistence of p190 bcr abl transcript and calr 52 bp deletion in chronic myeloid leukemia blast crisis a case report |
| topic | Chronic myeloid leukemia, BCR-ABL, Calreticulin. |
| url | http://www.mjhid.org/index.php/mjhid/article/view/2432 |
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