Evidence map›Paper›PMID 40682071›Full record

ArticleMolecular cytogenetics2025

Cytogenetic finding of simultaneous inversion of chromosome 14 and tetrasomy 8 in a Pediatric B-Lymphoblastic Leukemia-a case report.

Kiran Sachwani, Rehab Pasha, Bushra Kaleem, Neelum Mansoor

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Article in Molecular cytogenetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Kiran SachwaniDepartment of Cytogenetics, Indus Hospital and Health Network, Karachi, Pakistan.
Rehab PashaDepartment of Cytogenetics, Indus Hospital and Health Network, Karachi, Pakistan.
Bushra KaleemIndus Hospital Research Center, Indus Hospital and Health Network, Karachi, Pakistan.
Neelum MansoorDepartment of Cytogenetics, Indus Hospital and Health Network, Karachi, Pakistan. neelum.mansoor@tih.org.pk.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundClonal 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.

conclusionInversion 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.

Indexed as

B-ALLCytogeneticsInversion 14PediatricT-cell malignancies

Identifiers

PMID40682071
PMCPMC12275340

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