Cytogenetic finding of simultaneous inversion of chromosome 14 and tetrasomy 8 in a Pediatric B-Lymphoblastic Leukemia-a case report
Abstract Background Clonal cytogenetic abnormalities in B-lymphoblastic leukemia (B-ALL) include structural and numerical chromosomal alterations, where numerical are the most common aberrations. Inversion 14 [inv(14)] is an infrequent finding in B-ALL, but its prognostic and therapeutic significanc...
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| Language: | English |
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BMC
2025-07-01
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| Series: | Molecular Cytogenetics |
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| Online Access: | https://doi.org/10.1186/s13039-025-00715-6 |
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| author | Kiran Sachwani Rehab Pasha Bushra Kaleem Neelum Mansoor |
| author_facet | Kiran Sachwani Rehab Pasha Bushra Kaleem Neelum Mansoor |
| author_sort | Kiran Sachwani |
| collection | DOAJ |
| description | Abstract Background Clonal cytogenetic abnormalities in B-lymphoblastic leukemia (B-ALL) include structural and numerical chromosomal alterations, where numerical are the most common aberrations. Inversion 14 [inv(14)] is an infrequent finding in B-ALL, but its prognostic and therapeutic significance has not been previously explored. Case presentation A 13-year-old boy diagnosed as B-ALL on bone marrow aspirate by flow cytometry is presented. Fluorescence in situ hybridization (FISH) for B-ALL panel was reported as normal. Nevertheless, his cytogenetic studies performed on bone marrow showed tetrasomy 8 and a pericentric inversion in chromosome 14. Conclusion Inversion 14 is a rare finding in B-ALL, and its clinical relevance is worthy of further evaluation. The growing number of such cases reported emphasizes that there exists a possibility of a separate cytogenetic subset with diagnostic, prognostic or even therapeutic relevance. |
| format | Article |
| id | doaj-art-59029620d13e45d0b4018d6919879cbb |
| institution | Kabale University |
| issn | 1755-8166 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj-art-59029620d13e45d0b4018d6919879cbb2025-08-20T03:42:03ZengBMCMolecular Cytogenetics1755-81662025-07-011811610.1186/s13039-025-00715-6Cytogenetic finding of simultaneous inversion of chromosome 14 and tetrasomy 8 in a Pediatric B-Lymphoblastic Leukemia-a case reportKiran Sachwani0Rehab Pasha1Bushra Kaleem2Neelum Mansoor3Department of Cytogenetics, Indus Hospital and Health NetworkDepartment of Cytogenetics, Indus Hospital and Health NetworkIndus Hospital Research Center, Indus Hospital and Health NetworkDepartment of Cytogenetics, Indus Hospital and Health NetworkAbstract Background Clonal cytogenetic abnormalities in B-lymphoblastic leukemia (B-ALL) include structural and numerical chromosomal alterations, where numerical are the most common aberrations. Inversion 14 [inv(14)] is an infrequent finding in B-ALL, but its prognostic and therapeutic significance has not been previously explored. Case presentation A 13-year-old boy diagnosed as B-ALL on bone marrow aspirate by flow cytometry is presented. Fluorescence in situ hybridization (FISH) for B-ALL panel was reported as normal. Nevertheless, his cytogenetic studies performed on bone marrow showed tetrasomy 8 and a pericentric inversion in chromosome 14. Conclusion Inversion 14 is a rare finding in B-ALL, and its clinical relevance is worthy of further evaluation. The growing number of such cases reported emphasizes that there exists a possibility of a separate cytogenetic subset with diagnostic, prognostic or even therapeutic relevance.https://doi.org/10.1186/s13039-025-00715-6CytogeneticsB-ALLPediatricInversion 14T-cell malignancies |
| spellingShingle | Kiran Sachwani Rehab Pasha Bushra Kaleem Neelum Mansoor Cytogenetic finding of simultaneous inversion of chromosome 14 and tetrasomy 8 in a Pediatric B-Lymphoblastic Leukemia-a case report Molecular Cytogenetics Cytogenetics B-ALL Pediatric Inversion 14 T-cell malignancies |
| title | Cytogenetic finding of simultaneous inversion of chromosome 14 and tetrasomy 8 in a Pediatric B-Lymphoblastic Leukemia-a case report |
| title_full | Cytogenetic finding of simultaneous inversion of chromosome 14 and tetrasomy 8 in a Pediatric B-Lymphoblastic Leukemia-a case report |
| title_fullStr | Cytogenetic finding of simultaneous inversion of chromosome 14 and tetrasomy 8 in a Pediatric B-Lymphoblastic Leukemia-a case report |
| title_full_unstemmed | Cytogenetic finding of simultaneous inversion of chromosome 14 and tetrasomy 8 in a Pediatric B-Lymphoblastic Leukemia-a case report |
| title_short | Cytogenetic finding of simultaneous inversion of chromosome 14 and tetrasomy 8 in a Pediatric B-Lymphoblastic Leukemia-a case report |
| title_sort | cytogenetic finding of simultaneous inversion of chromosome 14 and tetrasomy 8 in a pediatric b lymphoblastic leukemia a case report |
| topic | Cytogenetics B-ALL Pediatric Inversion 14 T-cell malignancies |
| url | https://doi.org/10.1186/s13039-025-00715-6 |
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