Trisomy 5:A Rare Isolated Finding in Pediatric B-lymphoblastic Leukemia

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dc.contributor.authorSachwani, Kiranen_US
dc.contributor.authorMansoor, Neelumen_US
dc.date.accessioned2023-08-25T07:35:59Z
dc.date.available2023-08-25T07:35:59Z
dc.date.issued2023-04
dc.description.abstractBackground and Objectives: In acute leukemia, all diagnostic criteria and treatment protocols are based on cytogenetic and molecular geneticfindings. Despite recent advances in molecular biology, cytogenetic studies still play a pivotal role in the sub-classification of B-lymphoblastic leukemia (B-ALL). B-ALL is characterized by clonal cytogenetic abnormalities with numerical chromosomal aberrations being more common. An extra copy of chromosome 5 is common to see in cases with hyper diploidy. However, a gain of chromosome 5 as a sole anomaly is exceptionally rare in B-ALL. To date, trisomy 5 as a sole abnormality is reported in few cases only. We aimed to report the clinicopathologic profile of this rare finding to increase knowledge and highlight the disease course of these patients.Methods: We report a case of a 14-year boy presented with fever, lethargy and episodes of nasal bleeding for two weeks. He was admitted to the pediatric oncology unit at Indus hospital and health network, Karachi. Flowcytometry performed on peripheral blood using 8-color flowcytometry. Conventional karyotyping was performed by GTG banding. FISH panel was comprisedof dual color dual fusion probes for BCR::ABL1and ETV6::RUNX1whereas break apart probe for KMT2A (Metasystem, Germany).Digital image analysis for karyotyping and FISH was done on Leica Biosystems, Cytovision MB8.Results:Flowcytometry results were consistent with B-ALL. Cytogenetic analysis on his bone marrow aspirate revealed trisomy 5 as a sole abnormality with no evidence of any other clonal cytogenetic abnormality. FISH studies for BCR::ABL1, ETV6::RUNX1and KMT2Ashowed no evidence of gene rearrangements.Conclusion:Trisomy 5 is a very rare cytogenetic aberration. Only few cases reported in children. Inferior outcome is reported in both children and adults. The increasing number of reported cases raises the possibility of a distinct cytogenetic entity. Its prognostic and therapeutic implications are yet to be explored.en_US
dc.identifier.affiliationsDepartment of Pathology and Cytogenetics, The Indus Hospital and Health Network, Pakistan.en_US
dc.identifier.citationSachwani Kiran, Mansoor Neelum. Trisomy 5:A Rare Isolated Finding in Pediatric B-lymphoblastic Leukemia. International Blood Research & Reviews. 2023 Apr; 14(3): 1-5en_US
dc.identifier.issn2321–7219
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/225684
dc.languageenen_US
dc.publisherSciencedomain Internationalen_US
dc.relation.issuenumber3en_US
dc.relation.volume14en_US
dc.source.urihttps://dx.doi.org/10.9734/IBRR/2023/v14i3306en_US
dc.subjectCytogeneticsen_US
dc.subjecttrisomy 5en_US
dc.subjectB-lymphoblastic leukemiaen_US
dc.subjectpediatric.en_US
dc.titleTrisomy 5:A Rare Isolated Finding in Pediatric B-lymphoblastic Leukemiaen_US
dc.typeJournal Articleen_US
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