Evidence map›Paper›PMID 40663277›Full record

ReviewJournal of hematopathology2025

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, Arun R Panigrahi, Alexia P Monahan, Ananya Datta Mitra, Reid G Meyer, Nicole L Hoppman, Patricia T Greipp, Linda B Baughn, Jess F Peterson

Abstract readCase ReportsReview
PubMed Publisher
In one paragraph

Review in Journal of hematopathology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Sharri CyrusDivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.
Arun R PanigrahiDepartment of Pediatrics, University of California at Davis Comprehensive Cancer Center, Sacramento, CA, 95817, USA.
Alexia P MonahanDepartment of Pediatrics, University of California at Davis Comprehensive Cancer Center, Sacramento, CA, 95817, USA.
Ananya Datta MitraDepartment of Pathology and Laboratory Medicine, University of California Davis Medical Center, Sacramento, CA, 95817, USA.
Reid G MeyerDivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.
Nicole L HoppmanDivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.
Patricia T GreippDivision of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA, 200 First Street.
Linda B BaughnDivision of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA, 200 First Street.
Jess F PetersonDivision of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA, 200 First Street. peterson.jess@mayo.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Bone MarrowGene DeletionGerm-Line MutationIkaros Transcription FactorPrecursor B-Cell Lymphoblastic Leukemia-LymphomaFemaleHumansIn Situ Hybridization, FluorescenceIkaros Transcription FactorIKZF1 protein, humanIKZF1; B-lymphoblastic leukemia/lymphoma (B-ALL/LBL); Germline predisposition

Identifiers

PMID40663277

What OpenQuestion holds

Textmetadata
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.