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PCM1::JAK2 fusion associates with an atypical form of mycosis fungoides

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Abstract 

Deregulation of JAK-STAT pathway seems to be relevant in mycosis fungoides (MFs). We report the case of a 23-year-old woman diagnosed of atypical MF carrying isolated PCM1::JAK2 fusion and eosinophilia. The disease was refractory to common treatments and progressed increasing the number of large CD30 positive T-cells. After progression, treatment with brentuximab vedotin was decided and decreased the proportion of large cells, but the low-grade component persisted, and the skin lesions worsened. Immunohistochemical expression of p-STAT3 detected in most tumor cells demonstrated the abnormal activation of JAK-STAT pathway. Very few cases of mature T-cell lymphomas carrying PCM1::JAK2 gene fusion have been reported to date, and we review previous cases described with this alteration. Described cases shared similar clinicopathological features and low genetic complexity, and the presence of PCM1::JAK2 fusion associates with a distinctive form of the disease.

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Fig. 1
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Data availability

The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.

Code availability

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References

  1. Schwaller J (2012) Modeling ETV6-JAK2-induced leukemia: insights from the zebrafish. Haematologica 97:1783–1785. https://doi.org/10.3324/haematol.2012.080754

    Article  CAS  Google Scholar 

  2. Van Roosbroeck K, Cox L, Tousseyn T, Lahortiga I, Gielen O, Cauwelier B et al (2011) JAK2 rearrangements, including the novel SEC31A-JAK2 fusion, are recurrent in classical Hodgkin lymphoma. Blood 117:4056–4064. https://doi.org/10.1182/blood-2010-06-291310

    Article  CAS  Google Scholar 

  3. Poitras JL, Dal Cin P, Aster JC, Deangelo DJ, Morton CC (2008) Novel SSBP2-JAK2 fusion gene resulting from a t(5;9)(q14.1;p24.1) in pre-B acute lymphocytic leukemia. Genes Chromosom Cancer 47:884–889. https://doi.org/10.1002/gcc.20585

    Article  CAS  Google Scholar 

  4. Pérez C, González-Rincón J, Onaindia A, Almaráz C, García-Díaz N, Pisonero H et al (2015) Mutated JAK kinases and deregulated STAT activity are potential therapeutic targets in cutaneous T-cell lymphoma. Haematologica 100:e450–e453. https://doi.org/10.3324/haematol.2015.132837

    Article  CAS  Google Scholar 

  5. Choi J, Goh G, Walradt T, Hong BS, Bunick CG, Chen K et al (2015) Genomic landscape of cutaneous T cell lymphoma. Nat Genet 47:1011–1019. https://doi.org/10.1038/ng.3356

    Article  CAS  Google Scholar 

  6. Swerdlow SH, Campo E, Harris NL, et al (2017) WHO classification of tumours of haematopoietic and lymphoid tissues. International Agency for Research on Cancer, Lyon.

  7. Davis TH, Morton CC, Miller-Cassman R, Balk SP, Kadin ME (1992) Hodgkin’s disease, lymphomatoid papulosis, and cutaneous T-cell lymphoma derived from a common T-cell clone. N Engl J Med 326:1115–1122. https://doi.org/10.1056/nejm199204233261704

    Article  CAS  Google Scholar 

  8. Riedlinger GM, Chojecki A, Aviv H, Weissmann D, Joshi S, Murphy SM, et al (2019) Hodgkin lymphoma and cutaneous T-cell lymphoma sharing the PCM1-JAK2 fusion and a common T-cell clone. JCO Precis Oncol 1-8. https://doi.org/10.1200/po.19.00082

  9. Fernandez-Pol S, Neishaboori N, Chapman CM, Khodadoust MS, Kim YH, Rieger KE, et al (2021) Two cases of mycosis fungoides with PCM1-JAK2 fusion. JCO Precis Oncol 646-652. https://doi.org/10.1200/po.20.00366

  10. Bastidas Torres AN, Cats D, Out-Luiting JJ, Fanoni D, Mei H, Venegoni L, et al (2021) Deregulation of JAK2 signaling underlies primary cutaneous CD8+ aggressive epidermotropic cytotoxic T-cell lymphoma. Haematologica. https://doi.org/10.3324/haematol.2020.274506

  11. Fitzpatrick MJ, Massoth LR, Marcus C, Vergilio JA, Severson E, Duncan D et al (2021) JAK2 rearrangements are a recurrent alteration in CD30+ systemic T-cell lymphomas with anaplastic morphology. Am J Surg Pathol 45:895–904. https://doi.org/10.1097/PAS.0000000000001708

    Article  Google Scholar 

  12. Panagopoulos I, Gorunova L, Spetalen S, Bassarova A, Beiske K, Micci F et al (2017) Fusion of the genes ataxin 2 like, ATXN2L, and Janus kinase 2, JAK2, in cutaneous CD4 positive T-cell lymphoma. Oncotarget 8:103775–103784. https://doi.org/10.18632/oncotarget.21790

    Article  Google Scholar 

  13. Verma A, Kambhampati S, Parmar S, Platanias LC (2003) Jak family of kinases in cancer. Cancer Metastasis Rev 22:423–434. https://doi.org/10.1023/a:1023805715476

    Article  CAS  Google Scholar 

  14. Schwaller J, Parganas E, Wang D, Cain D, Aster JC, Williams IR et al (2000) Stat5 is essential for the myelo- and lymphoproliferative disease induced by TEL/JAK2. Mol Cell 6:693–704. https://doi.org/10.1016/s1097-2765(00)00067-8

    Article  CAS  Google Scholar 

  15. Ehrentraut S, Nagel S, Scherr ME, Schneider B, Quentmeier H, Geffers R et al (2013) t(8;9)(p22;p24)/PCM1-JAK2 activates SOCS2 and SOCS3 via STAT5. PLoS One 8:e53767. https://doi.org/10.1371/journal.pone.0053767

    Article  CAS  Google Scholar 

  16. Chase A, Bryant C, Score J, Haferlach C, Grossmann V, Schwaab J et al (2013) Ruxolitinib as potential targeted therapy for patients with JAK2 rearrangements. Haematologica 98:404–408. https://doi.org/10.3324/haematol.2012.067959

    Article  CAS  Google Scholar 

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Acknowledgements

The authors want to thank Xenia Riera, Francesc Garcia-Pallarols, and Lola Tobalina for their excellent technical assistance and English editing.

Funding

This research was funded by grant Fondo de Investigacion Sanitaria (FIS), Instituto de Salud Carlos III PI17/313 (L.C.).

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Author notes

  1. Juan Jose Rodriguez-Sevilla and Marta Salido contributed equally to this work.

Authors and Affiliations

  1. Department of Hematology, Hospital del Mar, Institute Hospital del Mar d’Investigacions Mediques (IMIM), Barcelona, Spain

    Juan Jose Rodriguez-Sevilla & Blanca Sanchez-Gonzalez

  2. Department of Pathology, Hospital del Mar, Institute Hospital del Mar d’Investigacions Mediques (IMIM), Barcelona, Spain

    Marta Salido, Maria Rodriguez-Rivera & Luis Colomo

  3. Department of Dermatology, Hospital del Mar, Institute Hospital del Mar d’Investigacions Mediques (IMIM), Barcelona, Spain

    Fernando Gallardo & Ramon Maria Pujol

  4. Universitat Pompeu Fabra, Barcelona, Spain

    Fernando Gallardo & Luis Colomo

  5. Universitat Autonoma de Barcelona, Barcelona, Spain

    Ramon Maria Pujol

Authors
  1. Juan Jose Rodriguez-Sevilla
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  2. Marta Salido
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  3. Maria Rodriguez-Rivera
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  4. Blanca Sanchez-Gonzalez
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  5. Fernando Gallardo
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  6. Ramon Maria Pujol
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  7. Luis Colomo
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Contributions

Conceptualization: Juan Jose Rodriguez-Sevilla, Marta Salido, Ramon Maria Pujol, Luis Colomo; methodology: Maria Rodriguez-Rivera, Blanca Sanchez-Gonzalez, Fernando Gallardo; formal analysis and investigation: Juan Jose Rodriguez-Sevilla, Marta Salido, Ramon Maria Pujol, Blanca Sanchez-Gonzalez, Fernando Gallardo, Luis Colomo; writing — original draft preparation: Juan Jose Rodriguez-Sevilla, Marta Salido, Blanca Sanchez-Gonzalez, Fernando Gallardo, Ramon Maria Pujol, Luis Colomo; writing — review and editing: Juan Jose Rodriguez-Sevilla, Marta Salido, Ramon Maria Pujol, Luis Colomo; funding acquisition: Luis Colomo; supervision: Luis Colomo.

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Correspondence to Luis Colomo.

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Rodriguez-Sevilla, J.J., Salido, M., Rodriguez-Rivera, M. et al. PCM1::JAK2 fusion associates with an atypical form of mycosis fungoides. Virchows Arch 481, 967–973 (2022). https://doi.org/10.1007/s00428-022-03372-x

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  • DOI: https://doi.org/10.1007/s00428-022-03372-x

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