Student or educator? Sign up with your school email and get 6 months of Pro free.
Cited by 794

The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.

Integrated molecular analysis of adult T cell leukemia/lymphoma

Kataoka, Keisuke, Nagata, Yasunobu, Kitanaka, Akira, Shiraishi, Yuichi, Shimamura, Teppei, Yasunaga, Jun-ichirou, Totoki, Yasushi, Chiba, Kenichi, Sato-Otsubo, Aiko, Nagae, Genta, Ishii, Ryohei, Muto, Satsuki, Kotani, Shinichi, Watatani, Yosaku, Takeda, June, Sanada, Masashi, Tanaka, Hiroko, Suzuki, Hiromichi, Sato, Yusuke, Shiozawa, Yusuke, Yoshizato, Tetsuichi, Yoshida, Kenichi, Makishima, Hideki, Iwanaga, Masako, Ma, Guangyong, Nosaka, Kisato, Hishizawa, Masakatsu, Itonaga, Hidehiro, Imaizumi, Yoshitaka, Munakata, Wataru, Ogasawara, Hideaki, Sato, Toshitaka, Sasai, Ken, Muramoto, Kenzo, Penova, Marina, Kawaguchi, Takahisa, Nakamura, Hiromi, Hama, Natsuko, Shide, Kotaro, Kubuki, Yoko, Hidaka, Tomonori, Kameda, Takuro, Nakamaki, Tsuyoshi, Ishiyama, Ken, Miyawaki, Shuichi, Yoon, Sung-Soo, Tobinai, Kensei, Miyazaki, Yasushi, Takaori-Kondo, Akifumi, Matsuda, Fumihiko, Takeuchi, Kengo, Nureki, Osamu, Aburatani, Hiroyuki, Watanabe, Toshiki, Shibata, Tatsuhiro, Matsuoka, Masao, Miyano, Satoru, Shimoda, Kazuya, Ogawa, Seishi·2015·Nature Genetics

Abstract

Adult T cell leukemia/lymphoma (ATL) is a peripheral T cell neoplasm of largely unknown genetic basis, associated with human T cell leukemia virus type-1 (HTLV-1) infection. Here we describe an integrated molecular study in which we performed whole-genome, exome, transcriptome and targeted resequencing, as well as array-based copy number and methylation analyses, in a total of 426 ATL cases. The identified alterations overlap significantly with the HTLV-1 Tax interactome and are highly enriched for T cell receptor-NF-κB signaling, T cell trafficking and other T cell-related pathways as well as immunosurveillance. Other notable features include a predominance of activating mutations (in PLCG1, PRKCB, CARD11, VAV1, IRF4, FYN, CCR4 and CCR7) and gene fusions (CTLA4-CD28 and ICOS-CD28). We also discovered frequent intragenic deletions involving IKZF2, CARD11 and TP73 and mutations in GATA3, HNRNPA2B1, GPR183, CSNK2A1, CSNK2B and CSNK1A1. Our findings not only provide unique insights into key molecules in T cell signaling but will also guide the development of new diagnostics and therapeutics in this intractable tumor.

Overview

Integrity signals

Registry

Crossref · 10.1038/ng.3415

Cites

11 of 11 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Verification

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Citations

Cites

Show all 11 references

Research works printed but not linked: 50

  1. Ishitsuka, K. & Tamura, K. Human T-cell leukaemia virus type I and adult T-cell leukaemia-lymphoma. Lancet Oncol. 15, e517–e526 (2014). · DOI
  2. Yamagishi, M. & Watanabe, T. Molecular hallmarks of adult T cell leukemia. Front. Microbiol. 3, 334 (2012). · DOI
  3. Nakagawa, M. et al. Gain-of-function CCR4 mutations in adult T cell leukemia/lymphoma. J. Exp. Med. 211, 2497–2505 (2014). · DOI
  4. Swerdllow, S., Campo, E. & Harris, N.L. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues (IARC Press, 2008).
  5. Chiu, Y.L. & Greene, W.C. The APOBEC3 cytidine deaminases: an innate defensive network opposing exogenous retroviruses and endogenous retroelements. Annu. Rev. Immunol. 26, 317–353 (2008). · DOI · Paper page
  6. Boxus, M. et al. The HTLV-1 Tax interactome. Retrovirology 5, 76 (2008). · DOI
  7. Thome, M., Charton, J.E., Pelzer, C. & Hailfinger, S. Antigen receptor signaling to NF-κB via CARMA1, BCL10, and MALT1. Cold Spring Harb. Perspect. Biol. 2, a003004 (2010). · DOI
  8. Vallabhapurapu, S. & Karin, M. Regulation and function of NF-κB transcription factors in the immune system. Annu. Rev. Immunol. 27, 693–733 (2009). · DOI
  9. Paul, S. & Schaefer, B.C. A new look at T cell receptor signaling to nuclear factor–κB. Trends Immunol. 34, 269–281 (2013). · DOI
  10. Bidère, N. et al. Casein kinase 1α governs antigen-receptor-induced NF-κB activation and human lymphoma cell survival. Nature 458, 92–96 (2009). · DOI
  11. Orel, L., Neumeier, H., Hochrainer, K., Binder, B.R. & Schmid, J.A. Crosstalk between the NF-κB activating IKK-complex and the CSN signalosome. J. Cell. Mol. Med. 14, 1555–1568 (2010). · DOI
  12. Phillips-Mason, P.J., Kaur, H., Burden-Gulley, S.M., Craig, S.E. & Brady-Kalnay, S.M. Identification of phospholipase C γ1 as a protein tyrosine phosphatase μ substrate that regulates cell migration. J. Cell. Biochem. 112, 39–48 (2011). · DOI
  13. Wall, K.A., Pierce, J.D. & Elbein, A.D. Inhibitors of glycoprotein processing alter T-cell proliferative responses to antigen and to interleukin 2. Proc. Natl. Acad. Sci. USA 85, 5644–5648 (1988). · DOI
  14. Fu, J. et al. The tumor suppressor gene WWOX links the canonical and noncanonical NF-κB pathways in HTLV-I Tax-mediated tumorigenesis. Blood 117, 1652–1661 (2011). · DOI
  15. Antal, C.E. et al. Cancer-associated protein kinase C mutations reveal kinase's role as tumor suppressor. Cell 160, 489–502 (2015). · DOI
  16. Leonard, T.A., Rozycki, B., Saidi, L.F., Hummer, G. & Hurley, J.H. Crystal structure and allosteric activation of protein kinase C βII. Cell 144, 55–66 (2011). · DOI
  17. Shaffer, A.L. III, Young, R.M. & Staudt, L.M. Pathogenesis of human B cell lymphomas. Annu. Rev. Immunol. 30, 565–610 (2012). · DOI · Paper page
  18. Sommer, K. et al. Phosphorylation of the CARMA1 linker controls NF-κB activation. Immunity 23, 561–574 (2005). · DOI · Paper page
  19. Palomero, T. et al. Recurrent mutations in epigenetic regulators, RHOA and FYN kinase in peripheral T cell lymphomas. Nat. Genet. 46, 166–170 (2014). · DOI
  20. Bustelo, X.R. Regulatory and signaling properties of the Vav family. Mol. Cell. Biol. 20, 1461–1477 (2000). · DOI
  21. Rudd, C.E., Taylor, A. & Schneider, H. CD28 and CTLA-4 coreceptor expression and signal transduction. Immunol. Rev. 229, 12–26 (2009). · DOI · Paper page
  22. Griffith, J.W., Sokol, C.L. & Luster, A.D. Chemokines and chemokine receptors: positioning cells for host defense and immunity. Annu. Rev. Immunol. 32, 659–702 (2014). · DOI · Paper page
  23. Bangham, C.R. & Osame, M. Cellular immune response to HTLV-1. Oncogene 24, 6035–6046 (2005). · DOI
  24. Bhatia, A. & Kumar, Y. Cellular and molecular mechanisms in cancer immune escape: a comprehensive review. Expert Rev. Clin. Immunol. 10, 41–62 (2014). · DOI
  25. Asanuma, S. et al. Adult T-cell leukemia cells are characterized by abnormalities of Helios expression that promote T cell growth. Cancer Sci. 104, 1097–1106 (2013). · DOI
  26. Zhang, Z. et al. Expression of a non-DNA-binding isoform of Helios induces T-cell lymphoma in mice. Blood 109, 2190–2197 (2007). · DOI
  27. Melino, G., De Laurenzi, V. & Vousden, K.H. p73: friend or foe in tumorigenesis. Nat. Rev. Cancer 2, 605–615 (2002). · DOI · Paper page
  28. Supek, F., Minana, B., Valcarcel, J., Gabaldon, T. & Lehner, B. Synonymous mutations frequently act as driver mutations in human cancers. Cell 156, 1324–1335 (2014). · DOI
  29. Feschotte, C. & Gilbert, C. Endogenous viruses: insights into viral evolution and impact on host biology. Nat. Rev. Genet. 13, 283–296 (2012). · DOI · Paper page
  30. Tong, X. et al. Ataxin-1 and Brother of ataxin-1 are components of the Notch signalling pathway. EMBO Rep. 12, 428–435 (2011). · DOI
  31. Hodson, D.J. et al. Deletion of the RNA-binding proteins ZFP36L1 and ZFP36L2 leads to perturbed thymic development and T lymphoblastic leukemia. Nat. Immunol. 11, 717–724 (2010). · DOI
  32. Litchfield, D.W. Protein kinase CK2: structure, regulation and role in cellular decisions of life and death. Biochem. J. 369, 1–15 (2003). · DOI · Paper page
  33. Perissi, V., Aggarwal, A., Glass, C.K., Rose, D.W. & Rosenfeld, M.G. A corepressor/coactivator exchange complex required for transcriptional activation by nuclear receptors and other regulated transcription factors. Cell 116, 511–526 (2004). · DOI · Paper page
  34. Childs, K.S. & Goodbourn, S. Identification of novel co-repressor molecules for Interferon Regulatory Factor-2. Nucleic Acids Res. 31, 3016–3026 (2003). · DOI
  35. Kaida, D., Schneider-Poetsch, T. & Yoshida, M. Splicing in oncogenesis and tumor suppression. Cancer Sci. 103, 1611–1616 (2012). · DOI
  36. Mallory, M.J. et al. Signal- and development-dependent alternative splicing of LEF1 in T cells is controlled by CELF2. Mol. Cell. Biol. 31, 2184–2195 (2011). · DOI
  37. Ramsay, A.J. et al. POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia. Nat. Genet. 45, 526–530 (2013). · DOI · Paper page
  38. You, J.S. & Jones, P.A. Cancer genetics and epigenetics: two sides of the same coin? Cancer Cell 22, 9–20 (2012). · DOI
  39. Kinpara, S. et al. Involvement of double-stranded RNA-dependent protein kinase and antisense viral RNA in the constitutive NFκB activation in adult T-cell leukemia/lymphoma cells. Leukemia 29, 1425–1429 (2015). · DOI
  40. Mackay, H.J. & Twelves, C.J. Targeting the protein kinase C family: are we there yet? Nat. Rev. Cancer 7, 554–562 (2007). · DOI
  41. Tsukasaki, K. et al. Definition, prognostic factors, treatment, and response criteria of adult T-cell leukemia-lymphoma: a proposal from an international consensus meeting. J. Clin. Oncol. 27, 453–459 (2009). · DOI · Paper page
  42. Iwanaga, M. et al. Human T-cell leukemia virus type I (HTLV-1) proviral load and disease progression in asymptomatic HTLV-1 carriers: a nationwide prospective study in Japan. Blood 116, 1211–1219 (2010). · DOI
  43. Sato, Y. et al. Integrated molecular analysis of clear-cell renal cell carcinoma. Nat. Genet. 45, 860–867 (2013). · DOI
  44. Nannya, Y. et al. A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res. 65, 6071–6079 (2005). · DOI · Paper page
  45. Yamamoto, G. et al. Highly sensitive method for genomewide detection of allelic composition in nonpaired, primary tumor specimens by use of Affymetrix single-nucleotide-polymorphism genotyping microarrays. Am. J. Hum. Genet. 81, 114–126 (2007). · DOI
  46. Van Loo, P. et al. Allele-specific copy number analysis of tumors. Proc. Natl. Acad. Sci. USA 107, 16910–16915 (2010). · DOI · Paper page
  47. Mermel, C.H. et al. GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers. Genome Biol. 12, R41 (2011). · DOI
  48. Shiraishi, Y. et al. An empirical Bayesian framework for somatic mutation detection from cancer genome sequencing data. Nucleic Acids Res. 41, e89 (2013). · DOI
  49. Accomando, W.P., Wiencke, J.K., Houseman, E.A., Nelson, H.H. & Kelsey, K.T. Quantitative reconstruction of leukocyte subsets using DNA methylation. Genome Biol. 15, R50 (2014). · DOI
  50. Teschendorff, A.E. et al. A beta-mixture quantile normalization method for correcting probe design bias in Illumina Infinium 450 k DNA methylation data. Bioinformatics 29, 189–196 (2013). · DOI

Cited by

Metadata

Authors
Kataoka, K., Nagata, Y., Kitanaka, A., Shiraishi, Y., Shimamura, T., Yasunaga, J.-I., Totoki, Y., Chiba, K., Sato-Otsubo, A., Nagae, G., Ishii, R., Muto, S., Kotani, S., Watatani, Y., Takeda, J., Sanada, M., Tanaka, H., Suzuki, H., Sato, Y., Shiozawa, Y., Yoshizato, T., Yoshida, K., Makishima, H., Iwanaga, M., Ma, G., Nosaka, K., Hishizawa, M., Itonaga, H., Imaizumi, Y., Munakata, W., Ogasawara, H., Sato, T., Sasai, K., Muramoto, K., Penova, M., Kawaguchi, T., Nakamura, H., Hama, N., Shide, K., Kubuki, Y., Hidaka, T., Kameda, T., Nakamaki, T., Ishiyama, K., Miyawaki, S., Yoon, S.-S., Tobinai, K., Miyazaki, Y., Takaori-Kondo, A., Matsuda, F., Takeuchi, K., Nureki, O., Aburatani, H., Watanabe, T., Shibata, T., Matsuoka, M., Miyano, S., Shimoda, K., & Ogawa, S.
Venue
Nature Genetics
Published
2015-10-05
Volume
47
Issue
11
Pages
1304-1315
ISSN
  • 1061-4036
  • 1546-1718
Cited by
794
References
11
Language
en
Licence
www.springer.com/tdm (tdm)

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Data sources

Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.