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Review
. 2025 Jul 15;18(1):34.
doi: 10.1007/s12308-025-00648-4.

Discovery of a germline IKZF1 deletion in a B-lymphoblastic leukemia post-induction bone marrow specimen: a case report and review of the literature

Sharri Cyrus  1 , Arun R Panigrahi  2 , Alexia P Monahan  2 , Ananya Datta Mitra  3 , Reid G Meyer  1 , Nicole L Hoppman  1 , Patricia T Greipp  4 , Linda B Baughn  4 , Jess F Peterson  5
Affiliations
Review

Discovery of a germline IKZF1 deletion in a B-lymphoblastic leukemia post-induction bone marrow specimen: a case report and review of the literature

Sharri Cyrus et al. J Hematop. .

Abstract

Somatic IKZF1 alterations are common in B-lymphoblastic leukemia (B-ALL) and are generally associated with poor outcomes. However, rare germline missense and nonsense variants were found to predispose individuals to leukemia. We report a case of B-ALL in a female patient with a germline IKZF1 deletion. The deletion was detected with diagnostic fluorescence in situ hybridization studies and persisted after treatment at a high percentage of nuclei discordant to that of the residual disease. A chromosomal microarray analysis was subsequently performed on a peripheral blood specimen which indicated that the deletion was most likely germline in origin and was confirmed by buccal and skin fibroblast analysis. This report emphasizes the increased predisposition of leukemia for individuals who have germline deletions of IKZF1.

Keywords: IKZF1; B-lymphoblastic leukemia/lymphoma (B-ALL/LBL); Germline predisposition.

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Conflict of interest statement

Declarations. Competing interests: The authors declare no competing interests. Ethical approval: All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent: For this type of study, informed consent is not required. Consent for publication: For this type of study, consent for publication is not required.

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