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Di Napoli A, Vacca D, Bertolazzi G, et al. RNA Sequencing of Primary Cutaneous and Breast-Implant Associated Anaplastic Large Cell Lymphomas Reveals Infrequent Fusion Transcripts and Upregulation of PI3K/AKT Signaling via Neurotrophin Pathway Genes. Cancers (Basel). 2021;13(24)doi: 10.3390/cancers13246174.
Di Napoli, A., Vacca, D., Bertolazzi, G., Lopez, G., Piane, M., Germani, A., Rogges, E., Pepe, G., Santanelli Di Pompeo, F., Salgarello, M., Jobanputra, V., Hsiao, S., Wrzeszczynski, K. O., Berti, E., & Bhagat, G. (2021). RNA Sequencing of Primary Cutaneous and Breast-Implant Associated Anaplastic Large Cell Lymphomas Reveals Infrequent Fusion Transcripts and Upregulation of PI3K/AKT Signaling via Neurotrophin Pathway Genes. Cancers, 13(24), . https://doi.org/10.3390/cancers13246174
Di Napoli, Arianna, et al. "RNA Sequencing of Primary Cutaneous and Breast-Implant Associated Anaplastic Large Cell Lymphomas Reveals Infrequent Fusion Transcripts and Upregulation of PI3K/AKT Signaling via Neurotrophin Pathway Genes." Cancers vol. 13,24 (2021). doi: https://doi.org/10.3390/cancers13246174
Di Napoli A, Vacca D, Bertolazzi G, Lopez G, Piane M, Germani A, Rogges E, Pepe G, Santanelli Di Pompeo F, Salgarello M, Jobanputra V, Hsiao S, Wrzeszczynski KO, Berti E, Bhagat G. RNA Sequencing of Primary Cutaneous and Breast-Implant Associated Anaplastic Large Cell Lymphomas Reveals Infrequent Fusion Transcripts and Upregulation of PI3K/AKT Signaling via Neurotrophin Pathway Genes. Cancers (Basel). 2021 Dec 07;13(24). doi: 10.3390/cancers13246174. PMID: 34944796; PMCID: PMC8699465.
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Cancers (Basel). 2021 Dec 07;13(24). doi: 10.3390/cancers13246174.

RNA Sequencing of Primary Cutaneous and Breast-Implant Associated Anaplastic Large Cell Lymphomas Reveals Infrequent Fusion Transcripts and Upregulation of PI3K/AKT Signaling via Neurotrophin Pathway Genes.

Cancers

Arianna Di Napoli, Davide Vacca, Giorgio Bertolazzi, Gianluca Lopez, Maria Piane, Aldo Germani, Evelina Rogges, Giuseppina Pepe, Fabio Santanelli Di Pompeo, Marzia Salgarello, Vaidehi Jobanputra, Susan Hsiao, Kazimierz O Wrzeszczynski, Emilio Berti, Govind Bhagat

Affiliations

  1. Department of Clinical and Molecular Medicine, Sant'Andrea Hospital, Sapienza University, 00189 Rome, Italy.
  2. Department of Surgical, Oncological and Oral Sciences, Palermo University, 90134 Palermo, Italy.
  3. Tumour Immunology Unit, Human Pathology Section, Department of Health Science, Palermo University, 90134 Palermo, Italy.
  4. Plastic Surgery Unit, Sant'Andrea Hospital, Sapienza University, 00189 Rome, Italy.
  5. Department of Plastic Surgery, Catholic University of Sacred Heart, University Hospital Agostino Gemelli, 00168 Roma, Italy.
  6. Department of Pathology and Cell Biology, Columbia University Medical Center, New York Presbyterian Hospital, New York, NY 10032, USA.
  7. New York Genome Center, New York, NY 10013, USA.
  8. Department of Dermatology, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

PMID: 34944796 PMCID: PMC8699465 DOI: 10.3390/cancers13246174

Abstract

Cutaneous and breast implant-associated anaplastic large-cell lymphomas (cALCLs and BI-ALCLs) are two localized forms of peripheral T-cell lymphomas (PTCLs) that are recognized as distinct entities within the family of ALCL. JAK-STAT signaling is a common feature of all ALCL subtypes, whereas DUSP22/IRF4, TP63 and TYK gene rearrangements have been reported in a proportion of ALK-negative sALCLs and cALCLs. Both cALCLs and BI-ALCLs differ in their gene expression profiles compared to PTCLs; however, a direct comparison of the genomic alterations and transcriptomes of these two entities is lacking. By performing RNA sequencing of 1385 genes (TruSight RNA Pan-Cancer, Illumina) in 12 cALCLs, 10 BI-ALCLs and two anaplastic lymphoma kinase (ALK)-positive sALCLs, we identified the previously reported TYK2-NPM1 fusion in 1 cALCL (1/12, 8%), and four new intrachromosomal gene fusions in 2 BI-ALCLs (2/10, 20%) involving genes on chromosome 1 (EPS15-GNG12 and ARNT-GOLPH3L) and on chromosome 17 (MYO18A-GIT1 and NF1-GOSR1). One of the two BI-ALCL samples showed a complex karyotype, raising the possibility that genomic instability may be responsible for intra-chromosomal fusions in BI-ALCL. Moreover, transcriptional analysis revealed similar upregulation of the PI3K/Akt pathway, associated with enrichment in the expression of neurotrophin signaling genes, which was more conspicuous in BI-ALCL, as well as differences, i.e., over-expression of genes involved in the RNA polymerase II transcription program in BI-ALCL and of the RNA splicing/processing program in cALCL.

Keywords: ALCL; NTRK signaling; PI3K/Akt pathway; fusion transcripts; transcriptome

References

  1. Nat Protoc. 2009;4(8):1184-91 - PubMed
  2. Cancer Immunol Immunother. 2021 May;70(5):1379-1392 - PubMed
  3. Blood. 2012 Sep 13;120(11):2280-9 - PubMed
  4. Haematologica. 2021 Jun 01;106(6):1714-1724 - PubMed
  5. Aesthet Surg J. 2019 Jan 31;39(Suppl_1):S14-S20 - PubMed
  6. Nature. 2009 Sep 10;461(7261):186-92 - PubMed
  7. Blood. 2014 Aug 28;124(9):1473-80 - PubMed
  8. Oncotarget. 2017 Mar 14;8(11):18525-18536 - PubMed
  9. Oncogene. 2003 Aug 21;22(35):5399-407 - PubMed
  10. Mod Pathol. 2019 Feb;32(2):216-230 - PubMed
  11. Hum Pathol. 2019 Aug;90:60-69 - PubMed
  12. Nat Med. 2012 Nov;18(11):1699-704 - PubMed
  13. Virchows Arch. 2018 Oct;473(4):505-511 - PubMed
  14. Appl Immunohistochem Mol Morphol. 2005 Jun;13(2):132-7 - PubMed
  15. Mod Pathol. 2011 Apr;24(4):596-605 - PubMed
  16. J Clin Oncol. 2008 Sep 1;26(25):4124-30 - PubMed
  17. Leukemia. 2019 Nov;33(11):2563-2574 - PubMed
  18. Leukemia. 1992 May;6(5):405-9 - PubMed
  19. Blood. 2003 Feb 15;101(4):1513-9 - PubMed
  20. Nucleic Acids Res. 2015 Apr 20;43(7):e47 - PubMed
  21. PLoS One. 2017 Jul 17;12(7):e0181097 - PubMed
  22. Acta Histochem. 2015 May-Jun;117(4-5):386-96 - PubMed
  23. Aesthet Surg J. 2016 Jul;36(7):773-81 - PubMed
  24. Bioinformatics. 2011 Jul 15;27(14):1922-8 - PubMed
  25. Blood. 2014 Dec 11;124(25):3768-71 - PubMed
  26. Nucleic Acids Res. 2012 Aug;40(15):e115 - PubMed
  27. Oncotarget. 2018 Nov 16;9(90):36126-36136 - PubMed
  28. J Immunol. 2013 Jan 1;190(1):58-65 - PubMed
  29. Leukemia. 2021 May;35(5):1500-1505 - PubMed
  30. Genome Biol. 2011;12(1):R6 - PubMed
  31. Nat Commun. 2014 Dec 22;5:5893 - PubMed
  32. Hum Genomics. 2017 Jun 21;11(1):13 - PubMed
  33. Bioinformatics. 2010 Apr 1;26(7):873-81 - PubMed
  34. Br J Haematol. 2018 Mar;180(5):741-744 - PubMed
  35. ESMO Open. 2016 Mar 18;1(2):e000023 - PubMed
  36. Leukemia. 2009 Mar;23(3):574-80 - PubMed
  37. Haematologica. 2016 Sep;101(9):e387-90 - PubMed
  38. Cell Death Differ. 2009 May;16(5):782-9 - PubMed
  39. Clin Cancer Res. 2012 Sep 1;18(17):4549-59 - PubMed
  40. Blood. 2008 Sep 15;112(6):2183-9 - PubMed
  41. Bioinformatics. 2013 Jan 1;29(1):15-21 - PubMed
  42. Leuk Lymphoma. 2009 May;50(5):831-3 - PubMed
  43. Blood. 2016 Jul 7;128(1):141-3 - PubMed
  44. Exp Hematol Oncol. 2021 Jan 7;10(1):4 - PubMed
  45. Nat Immunol. 2005 May;6(5):472-80 - PubMed
  46. J Clin Oncol. 2010 Mar 20;28(9):1583-90 - PubMed
  47. Nucleic Acids Res. 2016 Jul 8;44(W1):W90-7 - PubMed
  48. Blood. 2018 Aug 2;132(5):544-547 - PubMed
  49. J Invest Dermatol. 2010 Mar;130(3):816-25 - PubMed
  50. Adv Anat Pathol. 2015 Jan;22(1):29-49 - PubMed
  51. PLoS One. 2013;8(1):e53767 - PubMed
  52. Int J Clin Exp Pathol. 2013 Jul 15;6(8):1631-42 - PubMed
  53. Ann Oncol. 2016 Feb;27(2):306-14 - PubMed
  54. Zhonghua Bing Li Xue Za Zhi. 2019 Oct 8;48(10):791-795 - PubMed
  55. Nat Rev Neurosci. 2003 Apr;4(4):299-309 - PubMed
  56. Blood. 2020 Jan 30;135(5):360-370 - PubMed
  57. J Invest Dermatol. 2010 Feb;130(2):563-75 - PubMed
  58. J Exp Med. 2008 Sep 29;205(10):2295-307 - PubMed
  59. Blood. 2011 Jan 20;117(3):915-9 - PubMed
  60. Mod Pathol. 2005 Oct;18(10):1365-70 - PubMed
  61. Blood. 2020 Dec 17;136(25):2927-2932 - PubMed
  62. Oncogene. 2015 Sep 10;34(37):4845-54 - PubMed

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