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This article has an addendum. Addendum in: Oncotarget. 2023; 14:131-131.

Prognostic significance of isochromosome 17q in hematologic malignancies

Dorota Koczkodaj _, Justyna Muzyka-Kasietczuk, Sylwia Chocholska and Monika Podhorecka

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Oncotarget. 2021; 12:708-718. https://doi.org/10.18632/oncotarget.27914

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Dorota Koczkodaj1, Justyna Muzyka-Kasietczuk2, Sylwia Chocholska2 and Monika Podhorecka2

1 Department of Cancer Genetics with the Cytogenetic Laboratory, Medical University of Lublin, Lublin, Poland

2 Department of Hematooncology and Bone Marrow Transplantation, Medical University of Lublin, Lublin, Poland

Correspondence to:

Dorota Koczkodaj,email: [email protected]

Keywords: isochromosome 17q; karyotype; FISH; hematologic malignancies; prognosis

Received: December 24, 2020     Accepted: February 19, 2021     Published: March 30, 2021

Copyright: © 2021 Koczkodaj et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Isochromosome 17q [i(17q)] with its two identical long arms is formed by duplication of the q arm and loss of the short p arm. The breakpoint in chromosome 17 that allows the formation of this isochromosome is located at 17p11.2, and the ~240 kb region with its large, palindromic, low-copy repeat sequences are present here. The region is highly unstable and susceptible to a variety of genomic alterations which may be induced by or without toxic agents. One molecular consequence of i(17q) development is the obligatory loss of a single TP53 allele of the tumor suppressor P53 protein located at 17p13.1. Isochromosome 17q is involved in cancer development and progression. It occurs in combination with other chromosomal defects (complex cytogenetics), and rarely as a single mutation. The i(17q) rearrangement has been described as the most common chromosomal aberration in primitive neuroectodermal tumors and medulloblastomas. This isochromosome is also detected in different hematological disorders. In this article, we analyze literature data on the presence of i(17q) in proliferative disorders of the hematopoietic system in the context of its role as a prognostic factor of disease progression. The case reports are added to support the presented data. Currently, there are no indications for the use of specific treatment regimens in the subjects with a presence of the isochromosome 17q. Thus, it is of importance to continue studies on the prognostic role of this abnormality and even single cases should be reported as they may be used for further statistical analyses or meta-analyses.

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