Unique amplification of BCR-ABL1 gene fusion in a case of T-cell acute lymphoblastic leukemia
Abstract Background ABL1 gene translocations can be seen in precursor T-acute lymphoblastic leukemia (T-ALL). The typical translocation partner is the NUP214 gene. BCR-ABL translocations are relatively rare in this entity. Furthermore, while there have been unique patterns of amplification noted amo...
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| Format: | Article |
| Language: | English |
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BMC
2017-10-01
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| Series: | Molecular Cytogenetics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13039-017-0340-6 |
| _version_ | 1811223080654077952 |
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| author | Rima Koka Najeebah A. Bade Edward A. Sausville Yi Ning Ying Zou |
| author_facet | Rima Koka Najeebah A. Bade Edward A. Sausville Yi Ning Ying Zou |
| author_sort | Rima Koka |
| collection | DOAJ |
| description | Abstract Background ABL1 gene translocations can be seen in precursor T-acute lymphoblastic leukemia (T-ALL). The typical translocation partner is the NUP214 gene. BCR-ABL translocations are relatively rare in this entity. Furthermore, while there have been unique patterns of amplification noted among the NUP214-ABL fusion genes, there have been few such reports among cases with BCR-ABL fusion genes. Case presentation Here we report a unique case of a 44-year old patient with T-ALL in which the blasts demonstrated a derivative chromosome 9 involving a 9;22 translocation and a dicentric Philadelphia chromosome 22 with a homogeneously staining region at the interface of the 9;22 translocation, leading to BCR-ABL1 gene amplification. Fluorescence in-situ hybridization (FISH) showed abnormal BCR/ABL1 fusions with the BCR-ABL1 gene amplification in 48% of the interphase cells analyzed. The translocation was confirmed by SNP array. Conclusions We present a novel derivative chromosome 9 that shows BCR-ABL gene fusion along with a dicentric Philadelphia chromosome 22 with BCR-ABL1 gene amplification. This is a unique pattern of BCR-ABL fusion which has never been described in T-ALL. It is significant that the patient responded to standard treatment with the CALGB 10403 protocol and supplementation with a tyrosine kinase inhibitor. Identification of additional patients with this pattern of BCR-ABL fusion will allow for enhanced risk assessment and prognostication. |
| first_indexed | 2024-04-12T08:25:56Z |
| format | Article |
| id | doaj.art-e929ed700e364723a046b308da161a86 |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-04-12T08:25:56Z |
| publishDate | 2017-10-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-e929ed700e364723a046b308da161a862022-12-22T03:40:23ZengBMCMolecular Cytogenetics1755-81662017-10-011011510.1186/s13039-017-0340-6Unique amplification of BCR-ABL1 gene fusion in a case of T-cell acute lymphoblastic leukemiaRima Koka0Najeebah A. Bade1Edward A. Sausville2Yi Ning3Ying Zou4Department of Pathology, University of Maryland School of Medicine BaltimoreDepartment of Medicine, University of Maryland School of MedicineDepartment of Medicine, University of Maryland School of MedicineDepartment of Pathology, Johns Hopkins HospitalDepartment of Pathology, University of Maryland School of Medicine BaltimoreAbstract Background ABL1 gene translocations can be seen in precursor T-acute lymphoblastic leukemia (T-ALL). The typical translocation partner is the NUP214 gene. BCR-ABL translocations are relatively rare in this entity. Furthermore, while there have been unique patterns of amplification noted among the NUP214-ABL fusion genes, there have been few such reports among cases with BCR-ABL fusion genes. Case presentation Here we report a unique case of a 44-year old patient with T-ALL in which the blasts demonstrated a derivative chromosome 9 involving a 9;22 translocation and a dicentric Philadelphia chromosome 22 with a homogeneously staining region at the interface of the 9;22 translocation, leading to BCR-ABL1 gene amplification. Fluorescence in-situ hybridization (FISH) showed abnormal BCR/ABL1 fusions with the BCR-ABL1 gene amplification in 48% of the interphase cells analyzed. The translocation was confirmed by SNP array. Conclusions We present a novel derivative chromosome 9 that shows BCR-ABL gene fusion along with a dicentric Philadelphia chromosome 22 with BCR-ABL1 gene amplification. This is a unique pattern of BCR-ABL fusion which has never been described in T-ALL. It is significant that the patient responded to standard treatment with the CALGB 10403 protocol and supplementation with a tyrosine kinase inhibitor. Identification of additional patients with this pattern of BCR-ABL fusion will allow for enhanced risk assessment and prognostication.http://link.springer.com/article/10.1186/s13039-017-0340-6T-lymphoblastic leukemiaBCR/ABLGene amplificationIsodicentric chromosome 22Derivative chromosome 9 |
| spellingShingle | Rima Koka Najeebah A. Bade Edward A. Sausville Yi Ning Ying Zou Unique amplification of BCR-ABL1 gene fusion in a case of T-cell acute lymphoblastic leukemia Molecular Cytogenetics T-lymphoblastic leukemia BCR/ABL Gene amplification Isodicentric chromosome 22 Derivative chromosome 9 |
| title | Unique amplification of BCR-ABL1 gene fusion in a case of T-cell acute lymphoblastic leukemia |
| title_full | Unique amplification of BCR-ABL1 gene fusion in a case of T-cell acute lymphoblastic leukemia |
| title_fullStr | Unique amplification of BCR-ABL1 gene fusion in a case of T-cell acute lymphoblastic leukemia |
| title_full_unstemmed | Unique amplification of BCR-ABL1 gene fusion in a case of T-cell acute lymphoblastic leukemia |
| title_short | Unique amplification of BCR-ABL1 gene fusion in a case of T-cell acute lymphoblastic leukemia |
| title_sort | unique amplification of bcr abl1 gene fusion in a case of t cell acute lymphoblastic leukemia |
| topic | T-lymphoblastic leukemia BCR/ABL Gene amplification Isodicentric chromosome 22 Derivative chromosome 9 |
| url | http://link.springer.com/article/10.1186/s13039-017-0340-6 |
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