User menu

Accès à distance ? S'identifier sur le proxy UCLouvain

Activation of the Janus kinase/signal transducer and activator of transcription pathway in multiple myeloma is not related to point mutations in kinase and pseudokinase domains ofJAK1

Primary tabs

download
  • Open access
  • PDF
  • 706.18 K
Corbi, Fernanda C. de Oliveira, Mariana Bleker Morelli, Vania M. Han, Sang W. Renauld, Jean-Christophe [UCL] Knoops, Laurent [UCL] Colleoni, Gisele W. B.

Considering the recent impact of tyrosine kinase inhibitors in the treatment of myeloproliferative disorders carrying a recurrent JAK2 mutation not identified in multiple myeloma (MM), this study aimed to search for mutations in kinase and pseudokinase domains of the JAK1 gene in an attempt to define any critical and recurring change that can be used as a therapeutic target. We obtained CD138 + purified cells from 27 bone marrow aspirates of untreated MM, four normal controls and four MM cell lines. After amplification of kinase and pseudokinase domains of JAK1 in cDNA samples, the fragments were automatically sequenced. Seventy-eight percent of MM cases showed at least one polymorphism, all being synonymous single nucleotide polymorphisms (SNPs), with allele frequencies consistent with previous studies in normal European, African American and Asian populations. The four cell lines also showed only synonymous SNPs. Mutations in the kinase and pseudokinase domains of the JAK1 gene do not seem to be important for activation of the Janus kinase/signal transducer and activator of transcription (JAK/STAT) pathway because we were not able to find any recurrent mutation in a case series of 27 patients and four MM cell lines.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès libre
Publication date 2014
Language Anglais
Journal information "Leukemia & Lymphoma" - Vol. 55, no. 5, p. 1176-1180 (2014)
Peer reviewed yes
issn 1042-8194
e-issn 1029-2403
Publication status Publié
Affiliations UCL - (SLuc) Service d'hématologie
UCL - SSS/DDUV - Institut de Duve
Links
  1. Nelson Erik A., Walker Sarah R., Frank David A., Jak/STAT Signaling in the Pathogenesis and Treatment of Multiple Myeloma, Advances in Biology and Therapy of Multiple Myeloma (2013) ISBN:9781461446651 p.117-138, 10.1007/978-1-4614-4666-8_7
  2. Rane Sushil G, Reddy E Premkumar, Janus kinases: components of multiple signaling pathways, 10.1038/sj.onc.1203925
  3. Shi Yan, Xu Conggao, Recent Patents of Gene Mutation Relative to JAK/STAT Pathway and Their Implication in Myeloproliferative Diseases, 10.2174/187221508786241701
  4. Flex Elisabetta, Petrangeli Valentina, Stella Lorenzo, Chiaretti Sabina, Hornakova Tekla, Knoops Laurent, Ariola Cristina, Fodale Valentina, Clappier Emmanuelle, Paoloni Francesca, Martinelli Simone, Fragale Alessandra, Sanchez Massimo, Tavolaro Simona, Messina Monica, Cazzaniga Giovanni, Camera Andrea, Pizzolo Giovanni, Tornesello Assunta, Vignetti Marco, Battistini Angela, Cavé Hélène, Gelb Bruce D., Renauld Jean-Christophe, Biondi Andrea, Constantinescu Stefan N., Foà Robin, Tartaglia Marco, Somatically acquiredJAK1mutations in adult acute lymphoblastic leukemia, 10.1084/jem.20072182
  5. Vainchenker William, Dusa Alexandra, Constantinescu Stefan N., JAKs in pathology: Role of Janus kinases in hematopoietic malignancies and immunodeficiencies, 10.1016/j.semcdb.2008.07.002
  6. Gaikwad Amos, Rye Cassia L., Devidas Meenakshi, Heerema Nyla A., Carroll Andrew J., Izraeli Shai, Plon Sharon E., Basso Giuseppe, Pession Andrea, Rabin Karen R., Prevalence and clinical correlates ofJAK2mutations in Down syndrome acute lymphoblastic leukaemia, 10.1111/j.1365-2141.2008.07552.x
  7. Huang Q, Leukemia, 21, 813 (2007)
  8. Gordon Geoff M., Lambert Que T., Daniel Kenyon G., Reuther Gary W., Transforming JAK1 mutations exhibit differential signalling, FERM domain requirements and growth responses to interferon-γ, 10.1042/bj20100774
  9. Hornakova T., Chiaretti S., Lemaire M. M., Foa R., Ben Abdelali R., Asnafi V., Tartaglia M., Renauld J. C., Knoops L., ALL-associated JAK1 mutations confer hypersensitivity to the antiproliferative effect of type I interferon, 10.1182/blood-2009-09-245498
  10. Li Jun, Favata Margaret, Kelley Jennifer A., Caulder Eian, Thomas Beth, Wen Xiaoming, Sparks Richard B., Arvanitis Ari, Rogers James D., Combs Andrew P., Vaddi Kris, Solomon Kimberly A., Scherle Peggy A., Newton Robert, Fridman Jordan S., INCB16562, a JAK1/2 Selective Inhibitor, Is Efficacious against Multiple Myeloma Cells and Reverses the Protective Effects of Cytokine and Stromal Cell Support, 10.1593/neo.91192
  11. , Criteria for the classification of monoclonal gammopathies, multiple myeloma and related disorders: a report of the International Myeloma Working Group, 10.1046/j.1365-2141.2003.04355.x
  12. Greipp Philip R., Miguel Jesus San, Durie Brian G.M., Crowley John J., Barlogie Bart, Bladé Joan, Boccadoro Mario, Child J. Anthony, Avet-Loiseau Hervé, Kyle Robert A., Lahuerta Juan J., Ludwig Heinz, Morgan Gareth, Powles Raymond, Shimizu Kazuyuki, Shustik Chaim, Sonneveld Pieter, Tosi Patrizia, Turesson Ingemar, Westin Jan, International Staging System for Multiple Myeloma, 10.1200/jco.2005.04.242
  13. Hall TA, Nucleid Acids Symp Ser, 41, 95 (1999)
  14. Sagawa Morihiko, Nakazato Tomonori, Uchida Hideo, Ikeda Yasuo, Kizaki Masahiro, Cantharidin induces apoptosis of human multiple myeloma cells via inhibition of the JAK/STAT pathway, 10.1111/j.1349-7006.2008.00872.x
  15. Che Y, Oncol Rep, 22, 3777 (2009)
  16. Chapman Michael A., Lawrence Michael S., Keats Jonathan J., Cibulskis Kristian, Sougnez Carrie, Schinzel Anna C., Harview Christina L., Brunet Jean-Philippe, Ahmann Gregory J., Adli Mazhar, Anderson Kenneth C., Ardlie Kristin G., Auclair Daniel, Baker Angela, Bergsagel P. Leif, Bernstein Bradley E., Drier Yotam, Fonseca Rafael, Gabriel Stacey B., Hofmeister Craig C., Jagannath Sundar, Jakubowiak Andrzej J., Krishnan Amrita, Levy Joan, Liefeld Ted, Lonial Sagar, Mahan Scott, Mfuko Bunmi, Monti Stefano, Perkins Louise M., Onofrio Robb, Pugh Trevor J., Rajkumar S. Vincent, Ramos Alex H., Siegel David S., Sivachenko Andrey, Stewart A. Keith, Trudel Suzanne, Vij Ravi, Voet Douglas, Winckler Wendy, Zimmerman Todd, Carpten John, Trent Jeff, Hahn William C., Garraway Levi A., Meyerson Matthew, Lander Eric S., Getz Gad, Golub Todd R., Initial genome sequencing and analysis of multiple myeloma, 10.1038/nature09837
  17. Cenci Simone, Sitia Roberto, Managing and exploiting stress in the antibody factory, 10.1016/j.febslet.2007.04.031
  18. Todd Derrick J., Lee Ann-Hwee, Glimcher Laurie H., The endoplasmic reticulum stress response in immunity and autoimmunity, 10.1038/nri2359
  19. Masciarelli Silvia, Fra Anna M., Pengo Niccolò, Bertolotti Milena, Cenci Simone, Fagioli Claudio, Ron David, Hendershot Linda M., Sitia Roberto, CHOP-independent apoptosis and pathway-selective induction of the UPR in developing plasma cells, 10.1016/j.molimm.2009.12.003
  20. Adams Julian, The development of proteasome inhibitors as anticancer drugs, 10.1016/s1535-6108(04)00120-5
  21. Keats Jonathan J., Fonseca Rafael, Chesi Marta, Schop Roelandt, Baker Angela, Chng Wee-Joo, Van Wier Scott, Tiedemann Rodger, Shi Chang-Xin, Sebag Michael, Braggio Esteban, Henry Travis, Zhu Yuan-Xiao, Fogle Homer, Price-Troska Tammy, Ahmann Gregory, Mancini Catherine, Brents Leslie A., Kumar Shaji, Greipp Philip, Dispenzieri Angela, Bryant Barb, Mulligan George, Bruhn Laurakay, Barrett Michael, Valdez Riccardo, Trent Jeff, Stewart A. Keith, Carpten John, Bergsagel P. Leif, Promiscuous Mutations Activate the Noncanonical NF-κB Pathway in Multiple Myeloma, 10.1016/j.ccr.2007.07.003
  22. Annunziata Christina M., Davis R. Eric, Demchenko Yulia, Bellamy William, Gabrea Ana, Zhan Fenghuang, Lenz Georg, Hanamura Ichiro, Wright George, Xiao Wenming, Dave Sandeep, Hurt Elaine M., Tan Bruce, Zhao Hong, Stephens Owen, Santra Madhumita, Williams David R., Dang Lenny, Barlogie Bart, Shaughnessy John D., Kuehl W. Michael, Staudt Louis M., Frequent Engagement of the Classical and Alternative NF-κB Pathways by Diverse Genetic Abnormalities in Multiple Myeloma, 10.1016/j.ccr.2007.07.004
  23. Darnell James E., Transcription factors as targets for cancer therapy, 10.1038/nrc906
  24. Ihle James N, The Stat family in cytokine signaling, 10.1016/s0955-0674(00)00199-x
  25. ZL Wu, YQ Song, YF Shi, Zhu J, High nuclear expression of STAT3 is associated with unfavorable prognosis in diffuse large B-cell lymphoma, 10.1186/1756-8722-4-31
  26. Liby K., The Synthetic Triterpenoid CDDO-Imidazolide Suppresses STAT Phosphorylation and Induces Apoptosis in Myeloma and Lung Cancer Cells, 10.1158/1078-0432.ccr-06-0215
  27. Nelson E. A., Walker S. R., Kepich A., Gashin L. B., Hideshima T., Ikeda H., Chauhan D., Anderson K. C., Frank D. A., Nifuroxazide inhibits survival of multiple myeloma cells by directly inhibiting STAT3, 10.1182/blood-2007-12-129718
Bibliographic reference Corbi, Fernanda C. ; de Oliveira, Mariana Bleker ; Morelli, Vania M. ; Han, Sang W. ; Renauld, Jean-Christophe ; et. al. Activation of the Janus kinase/signal transducer and activator of transcription pathway in multiple myeloma is not related to point mutations in kinase and pseudokinase domains ofJAK1. In: Leukemia & Lymphoma, Vol. 55, no. 5, p. 1176-1180 (2014)
Permanent URL http://hdl.handle.net/2078.1/141128