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
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Discovery of a germline IKZF1 deletion in a B-lymphoblastic leukemia post-induction bone marrow specimen: a case report and review of the literature.
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.
期刊介绍：
The Journal of Hematopathology aims at providing pathologists with a special interest in hematopathology with all the information needed to perform modern pathology in evaluating lymphoid tissues and bone marrow. To this end the journal publishes reviews, editorials, comments, original papers, guidelines and protocols, papers on ancillary techniques, and occasional case reports in the fields of the pathology, molecular biology, and clinical features of diseases of the hematopoietic system.
The journal is the unique reference point for all pathologists with an interest in hematopathology. Molecular biologists involved in the expanding field of molecular diagnostics and research on lymphomas and leukemia benefit from the journal, too. Furthermore, the journal is of major interest for hematologists dealing with patients suffering from lymphomas, leukemias, and other diseases.
The journal is unique in its true international character. Especially in the field of hematopathology it is clear that there are huge geographical variations in incidence of diseases. This is not only locally relevant, but due to globalization, relevant for all those involved in the management of patients.
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