An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case
Abstract Background About 25 years ago, the acquired chromosome abnormality dicentric dic(9;20)(p11 ~ 13;q11) was seen described as a non-random aberration in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Yet, about 200 cases were reported. However, dicentric dic(9;20) is a subtle abnorma...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2020-07-01
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| Series: | Molecular Cytogenetics |
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| Online Access: | http://link.springer.com/article/10.1186/s13039-020-00499-x |
| _version_ | 1828445751080910848 |
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| author | Abdulsamad Wafa Rami A. Jarjour Abdulmunim Aljapawe Suher ALmedania Thomas Liehr Joana B. Melo Isabel M. Carreira Moneeb A. K. Othman Walid Al-Achkar |
| author_facet | Abdulsamad Wafa Rami A. Jarjour Abdulmunim Aljapawe Suher ALmedania Thomas Liehr Joana B. Melo Isabel M. Carreira Moneeb A. K. Othman Walid Al-Achkar |
| author_sort | Abdulsamad Wafa |
| collection | DOAJ |
| description | Abstract Background About 25 years ago, the acquired chromosome abnormality dicentric dic(9;20)(p11 ~ 13;q11) was seen described as a non-random aberration in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Yet, about 200 cases were reported. However, dicentric dic(9;20) is a subtle abnormality which easily may be mixed up with monosomy 20 and/or del(9p). The dicentric dic(9;20) can be found as a sole chromosomal abnormality or can be masked within complex rearrangements; also, a dicentric dic(9;20) is often associated with mono- or biallelic loss of CDKN2A gene. Case presentation Here we report a case of 16-year-old male diagnosed with a de novo pre-B-ALL. Molecular approaches (array-based multicolor banding (aMCB) and array comparative genomic hybridization (aCGH)) were applied, and a unique complex karyotype involving six chromosomes was identified. It included three previously unreported chromosomal aberrations: dicentric dic(9;20;X), deletion del(7)(p22.2p15.2) and dicentric dic(7;13). The dicentric dic(9;20;X) also led to monoallelic loss of tumor suppressor gene CDKN2A. After successful chemotherapeutic treatment the patient experienced a relapse with a secondary ALL without complex karyotype but a deletion del(19)(p13). Unfortunately, the patient died after 17 months of the initial diagnosis. Conclusions To the best of our knowledge, a comparable childhood ALL associated with such complex karyotype and deletion del(19)(p13) in secondary ALL was not previously reported. Thus, the complex karyotype with dicentrc dic(9;20;X) seems to indicate for a poor prognosis. |
| first_indexed | 2024-12-10T22:02:18Z |
| format | Article |
| id | doaj.art-85791fde35d048e18bca23dd84b3ec80 |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-12-10T22:02:18Z |
| publishDate | 2020-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-85791fde35d048e18bca23dd84b3ec802022-12-22T01:31:52ZengBMCMolecular Cytogenetics1755-81662020-07-011311610.1186/s13039-020-00499-xAn acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia caseAbdulsamad Wafa0Rami A. Jarjour1Abdulmunim Aljapawe2Suher ALmedania3Thomas Liehr4Joana B. Melo5Isabel M. Carreira6Moneeb A. K. Othman7Walid Al-Achkar8Department of Molecular Biology and Biotechnology, Human Genetics Division, Atomic Energy CommissionDepartment of Molecular Biology and Biotechnology, Human Genetics Division, Atomic Energy CommissionDepartment of Molecular Biology and Biotechnology, Mammalians Biology Division, Atomic Energy CommissionDepartment of Molecular Biology and Biotechnology, Human Genetics Division, Atomic Energy CommissionJena University Hospital, Institute of Human GeneticsCytogenetics and Genomics Laboratory, Faculty of Medicine, University of CoimbraCytogenetics and Genomics Laboratory, Faculty of Medicine, University of CoimbraJena University Hospital, Institute of Human GeneticsDepartment of Molecular Biology and Biotechnology, Human Genetics Division, Atomic Energy CommissionAbstract Background About 25 years ago, the acquired chromosome abnormality dicentric dic(9;20)(p11 ~ 13;q11) was seen described as a non-random aberration in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Yet, about 200 cases were reported. However, dicentric dic(9;20) is a subtle abnormality which easily may be mixed up with monosomy 20 and/or del(9p). The dicentric dic(9;20) can be found as a sole chromosomal abnormality or can be masked within complex rearrangements; also, a dicentric dic(9;20) is often associated with mono- or biallelic loss of CDKN2A gene. Case presentation Here we report a case of 16-year-old male diagnosed with a de novo pre-B-ALL. Molecular approaches (array-based multicolor banding (aMCB) and array comparative genomic hybridization (aCGH)) were applied, and a unique complex karyotype involving six chromosomes was identified. It included three previously unreported chromosomal aberrations: dicentric dic(9;20;X), deletion del(7)(p22.2p15.2) and dicentric dic(7;13). The dicentric dic(9;20;X) also led to monoallelic loss of tumor suppressor gene CDKN2A. After successful chemotherapeutic treatment the patient experienced a relapse with a secondary ALL without complex karyotype but a deletion del(19)(p13). Unfortunately, the patient died after 17 months of the initial diagnosis. Conclusions To the best of our knowledge, a comparable childhood ALL associated with such complex karyotype and deletion del(19)(p13) in secondary ALL was not previously reported. Thus, the complex karyotype with dicentrc dic(9;20;X) seems to indicate for a poor prognosis.http://link.springer.com/article/10.1186/s13039-020-00499-xAcute lymphoblastic leukemiaComplex karyotypeDicentric dic(9;20)Array-based multicolor banding (aMCB)Array comparative genomic hybridization (aCGH)Prognostic factors |
| spellingShingle | Abdulsamad Wafa Rami A. Jarjour Abdulmunim Aljapawe Suher ALmedania Thomas Liehr Joana B. Melo Isabel M. Carreira Moneeb A. K. Othman Walid Al-Achkar An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case Molecular Cytogenetics Acute lymphoblastic leukemia Complex karyotype Dicentric dic(9;20) Array-based multicolor banding (aMCB) Array comparative genomic hybridization (aCGH) Prognostic factors |
| title | An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case |
| title_full | An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case |
| title_fullStr | An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case |
| title_full_unstemmed | An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case |
| title_short | An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case |
| title_sort | acquired stable variant of a dicentric dic 9 20 and complex karyotype in a syrian childhood b acute lymphoblastic leukemia case |
| topic | Acute lymphoblastic leukemia Complex karyotype Dicentric dic(9;20) Array-based multicolor banding (aMCB) Array comparative genomic hybridization (aCGH) Prognostic factors |
| url | http://link.springer.com/article/10.1186/s13039-020-00499-x |
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