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Histone Demethylase Gene PHF2 Is Mutated in Gastric and Colorectal Cancers

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Pathology & Oncology Research

Abstract

Alterations of genes involved in histone modification are common in cancers. A histone demethylase-encoding gene PHF2 is considered a putative tumor suppressor gene (TSG). PHF2 is essential for p53-mediated TSG functions such as chemotherapy-mediated cancer cell killing. However, inactivating mutations of PHF2 that could inactivate its functions are not reported in cancers. In a genome database, we observed that the PHF2 gene possessed mononucleotide repeats, which could be mutated in cancers with high microsatellite instability (MSI-H). For this, we analyzed 124 colorectal cancers (CRCs) and 79 gastric (GCs) cancers for the mutations and their intratumoral heterogeneity (ITH). Twenty-two of 79 CRCs (27.8 %) and 7 of 34 GCs (20.6 %) harboring MSI-H exhibited frameshift mutations. However, we found no such mutations in microsatellite stable/low MSI (MSS/MSI-L) cancers. Also, we studied ITH for the detected frameshift mutations in 16 cases of CRCs and detected ITH in two (12.5 %) cases. Our data reveal that TSG gene PHF2 harbors mutational ITH as well as the frameshift mutations in CRC and GC with MSI-H. Based on this, it is suggested that frameshift mutations of PHF2 may play a role in tumorigenesis through its TSG inactivation in CRC and GC.

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Acknowledgments

This work was supported by a grant from National Research Foundation of Korea (2012R1A5A2047939).

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Authors and Affiliations

  1. Department of Pathology, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Socho-gu, Seoul, 137-701, South Korea

    Joo Hwa Lee, Nam Jin Yoo, Min Sung Kim & Sug Hyung Lee

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  1. Joo Hwa Lee
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  2. Nam Jin Yoo
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  3. Min Sung Kim
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  4. Sug Hyung Lee
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Correspondence to Sug Hyung Lee.

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Joo Hwa Lee and Nam Jin Yoo contributed equally to this work.

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Lee, J.H., Yoo, N.J., Kim, M.S. et al. Histone Demethylase Gene PHF2 Is Mutated in Gastric and Colorectal Cancers. Pathol. Oncol. Res. 23, 471–476 (2017). https://doi.org/10.1007/s12253-016-0130-1

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  • DOI: https://doi.org/10.1007/s12253-016-0130-1

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