Sex chromosome loss and the pseudoautosomal region genes in hematological malignancies

Stephanie Weng, Samuel A. Stoner and Dong-Er Zhang _

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Oncotarget. 2016; 7:72356-72372. https://doi.org/10.18632/oncotarget.12050

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Stephanie Weng1, Samuel A. Stoner1 and Dong-Er Zhang1,2

1 Moores Cancer Center, University of California San Diego, La Jolla, CA, USA

2 Department of Pathology and Division of Biological Sciences, University of California San Diego, La Jolla, CA, USA

Correspondence to:

Dong-Er Zhang, email:

Keywords: sex chromosome, hematological malignancy, pseudoautosomal region, sex chromosome loss, haploinsufficiency

Received: July 13, 2016 Accepted: September 07, 2016 Published: September 15, 2016


Cytogenetic aberrations, such as chromosomal translocations, aneuploidy, and amplifications, are frequently detected in hematological malignancies. For many of the common autosomal aberrations, the mechanisms underlying their roles in cancer development have been well-characterized. On the contrary, although loss of a sex chromosome is observed in a broad range of hematological malignancies, how it cooperates in disease development is less understood. Nevertheless, it has been postulated that tumor suppressor genes reside on the sex chromosomes. Although the X and Y sex chromosomes are highly divergent, the pseudoautosomal regions are homologous between both chromosomes. Here, we review what is currently known about the pseudoautosomal region genes in the hematological system. Additionally, we discuss implications for haploinsufficiency of critical pseudoautosomal region sex chromosome genes, driven by sex chromosome loss, in promoting hematological malignancies. Because mechanistic studies on disease development rely heavily on murine models, we also discuss the challenges and caveats of existing models, and propose alternatives for examining the involvement of pseudoautosomal region genes and loss of a sex chromosome in vivo. With the widespread detection of loss of a sex chromosome in different hematological malignances, the elucidation of the role of pseudoautosomal region genes in the development and progression of these diseases would be invaluable to the field.

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