Ph-like acute lymphoblastic leukemia with a novel PAX5-KIDINS220 fusion transcript

Genes Chromosomes and Cancer

Volumn 56, Issue 4, 2017, Pages 278-284

  Sakamoto, Kenichi ^a   Imamura, Toshihiko ^a   Kanayama, Takuyo ^a   Yano, Mio ^b   Asai, Daisuke ^c   Deguchi, Takao ^d   Hashii, Yoshiko ^e   Tanizawa, Akihiko ^f   Ohshima, Yusei ^f   Kiyokawa, Nobutaka ^g   Horibe, Keizo ^h   Sato, Atsushi ⁱ  

^a KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^b Japan   (Japan)

^c KYOTO SECOND RED CROSS HOSPITAL   (Japan)

^d MIE UNIVERSITY   (Japan)

^e OSAKA UNIVERSITY   (Japan)

^f UNIVERSITY OF FUKUI   (Japan)

^g NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^h NATIONAL HOSPITAL ORGANIZATION NAGOYA MEDICAL CENTER   (Japan)

ⁱ Miyagi Childrens Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

B LYMPHOCYTE RECEPTOR; CARCINOEMBRYONIC ANTIGEN RELATED CELL ADHESION MOLECULE 6; CD19 ANTIGEN; CD34 ANTIGEN; CD38 ANTIGEN; CD79A ANTIGEN; COMMON ACUTE LYMPHOBLASTIC LEUKEMIA ANTIGEN; HLA DR ANTIGEN; KINASE D INTERACTING SUBSTRATE OF 220 KDA; LYMPHOCYTE FUNCTION ASSOCIATED ANTIGEN 3; MITOGEN ACTIVATED PROTEIN KINASE; PHOSPHOTRANSFERASE; T LYMPHOCYTE RECEPTOR; TRANSCRIPTION FACTOR PAX5; UNCLASSIFIED DRUG; KIDINS220 PROTEIN, HUMAN; MEMBRANE PROTEIN; NERVE PROTEIN; ONCOPROTEIN; PAX5 PROTEIN, HUMAN;

ACUTE LYMPHOBLASTIC LEUKEMIA; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ARTICLE; B LYMPHOCYTE DIFFERENTIATION; CASE REPORT; CELL DIFFERENTIATION; GENE FUSION; GENETIC ANALYSIS; HUMAN; IMMUNOPHENOTYPING; MALE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; UPREGULATION; CHILD; GENETICS; PATHOLOGY; PHILADELPHIA 1 CHROMOSOME; PROGNOSIS;

CHILD; HUMANS; MALE; MEMBRANE PROTEINS; NERVE TISSUE PROTEINS; ONCOGENE PROTEINS, FUSION; PAX5 TRANSCRIPTION FACTOR; PHILADELPHIA CHROMOSOME; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; PROGNOSIS;

EID: 85006054917     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.22433     Document Type: Article

References (33)

1. Anderl S, Konig M, Attarbaschi A, Strehl S. 2015. PAX5-KIAA1549L: a novel fusion gene in a case of pediatric B-cell precursor acute lymphoblastic leukemia. Mol Cytogenet 8:48.
2. Andreadi C, Noble C, Patel B, Jin H, Aguilar Hernandez MM, Balmanno K, Cook SJ, Pritchard C. 2012. Regulation of MEK/ERK pathway output by subcellular localization of B-Raf. Biochem Soc Trans 40:67–72.
3. Arevalo JC, Yano H, Teng KK, Chao MV. 2004. A unique pathway for sustained neurotrophin signaling through an ankyrin-rich membrane-spanning protein. Embo J 23:2358–2368.
4. Arevalo JC, Pereira DB, Yano H, Teng KK, Chao MV. 2006. Identification of a switch in neurotrophin signaling by selective tyrosine phosphorylation. J Biol Chem 281:1001–1007.
5. Asai D, Imamura T, Suenobu S, Saito A, Hasegawa D, Deguchi T, Hashii Y, Matsumoto K, Kawasaki H, Hori H, Iguchi A, Kosaka Y, Kato K, Horibe K, Yumura-Yagi K, Hara J, Oda M. 2013. IKZF1 deletion is associated with a poor outcome in pediatric B-cell precursor acute lymphoblastic leukemia in Japan. Cancer Med 2:412–419.
6. Auer F, Ingenhag D, Bhatia S, Enczmann J, Cobaleda C, Sanchez-Garcia I, Borkhardt A, Hauer J. 2016. GEMMs addressing Pax5 loss-of-function in childhood pB-ALL. Eur J Med Genet 59:166–172.
7. Cobaleda C, Schebesta A, Delogu A, Busslinger M. 2007. Pax5: the guardian of B cell identity and function. Nat Immunol 8:463–470.
8. Coyaud E, Struski S, Prade N, Familiades J, Eichner R, Quelen C, Bousquet M, Mugneret F, Talmant P, Pages MP, Lefebvre C, Penther D, Lippert E, Nadal N, Taviaux S, Poppe B, Luquet I, Baranger L, Eclache V, Radford I, Barin C, Mozziconacci MJ, Lafage-Pochitaloff M, Antoine-Poirel H, Charrin C, Perot C, Terre C, Brousset P, Dastugue N, Broccardo C. 2010. Wide diversity of PAX5 alterations in B-ALL: a Groupe Francophone de Cytogenetique Hematologique study. Blood 115:3089–3097.
9. Den Boer ML, van Slegtenhorst M, De Menezes RX, Cheok MH, Buijs-Gladdines JG, Peters ST, Van Zutven LJ, Beverloo HB, Van der Spek PJ, Escherich G, Horstmann MA, Janka-Schaub GE, Kamps WA, Evans WE, Pieters R. 2009. A subtype of childhood acute lymphoblastic leukaemia with poor treatment outcome: a genome-wide classification study. Lancet Oncol 10:125–134.
10. Deswal S, Meyer A, Fiala GJ, Eisenhardt AE, Schmitt LC, Salek M, Brummer T, Acuto O, Schamel WW. 2013. Kidins220/ARMS associates with B-Raf and the TCR, promoting sustained Erk signaling in T cells. J Immunol 190:1927–1935.
11. Fazio G, Palmi C, Rolink A, Biondi A, Cazzaniga G. 2008. PAX5/TEL acts as a transcriptional repressor causing down-modulation of CD19, enhances migration to CXCL12, and confers survival advantage in pre-BI cells. Cancer Res 68:181–189.
12. Fazio G, Daniele G, Cazzaniga V, Impera L, Severgnini M, Iacobucci I, Galbiati M, Leszl A, Cifola I, De Bellis G, Bresciani P, Martinelli G, Basso G, Biondi A, Storlazzi CT, Cazzaniga G. 2015. Three novel fusion transcripts of the paired box 5 gene in B-cell precursor acute lymphoblastic leukemia. Haematologica 100:e14–e17.
13. Fiala GJ, Janowska I, Prutek F, Hobeika E, Satapathy A, Sprenger A, Plum T, Seidl M, Dengjel J, Reth M, Cesca F, Brummer T, Minguet S, Schamel WW. 2015. Kidins220/ARMS binds to the B cell antigen receptor and regulates B cell development and activation. J Exp Med 212:1693–1708.
14. Fortschegger K, Anderl S, Denk D, Strehl S. 2014. Functional heterogeneity of PAX5 chimeras reveals insight for leukemia development. Mol Cancer Res 12:595–606.
15. Iglesias T, Cabrera-Poch N, Mitchell MP, Naven TJ, Rozengurt E, Schiavo G. 2000. Identification and cloning of Kidins220, a novel neuronal substrate of protein kinase D. J Biol Chem 275:40048–40056.
16. Imamura T, Kiyokawa N, Kato M, Imai C, Okamoto Y, Yano M, Ohki K, Yamashita Y, Kodama Y, Saito A, Mori M, Ishimaru S, Deguchi T, Hashii Y, Shimomura Y, Hori T, Kato K, Goto H, Ogawa C, Koh K, Taki T, Manabe A, Sato A, Kikuta A, Adachi S, Horibe K, Ohara A, Watanabe A, Kawano Y, Ishii E, Shimada H. 2016. Characterization of pediatric Philadelphia-negative B-cell precursor acute lymphoblastic leukemia with kinase fusions in Japan. Blood Cancer J 6:e419.
17. Liao YH, Hsu SM, Huang PH. 2007. ARMS depletion facilitates UV irradiation induced apoptotic cell death in melanoma. Cancer Res 67:11547–11556.
18. Liao YH, Hsu SM, Yang HL, Tsai MS, Huang PH. 2011. Upregulated ankyrin repeat-rich membrane spanning protein contributes to tumour progression in cutaneous melanoma. Br J Cancer 104:982–988.
19. Marincevic-Zuniga Y, Zachariadis V, Cavelier L, Castor A, Barbany G, Forestier E, Fogelstrand L, Heyman M, Abrahamsson J, Lonnerholm G, Nordgren A, Syvanen AC, Nordlund J. 2016. PAX5-ESRRB is a recurrent fusion gene in B-cell precursor pediatric acute lymphoblastic leukemia. Haematologica 101:e20–e23.
20. Masuzawa A, Kiyotani C, Osumi T, Shioda Y, Iijima K, Tomita O, Nakabayashi K, Oboki K, Yasuda K, Sakamoto H, Ichikawa H, Hata K, Yoshida T, Matsumoto K, Kiyokawa N, Mori T. 2014. Poor responses to tyrosine kinase inhibitors in a child with precursor B-cell acute lymphoblastic leukemia with SNX2-ABL1 chimeric transcript. Eur J Haematol 92:263–267.
21. Medvedovic J, Ebert A, Tagoh H, Busslinger M. 2011. Pax5: a master regulator of B cell development and leukemogenesis. Adv Immunol 111:179–206.
22. Mullighan CG, Goorha S, Radtke I, Miller CB, Coustan-Smith E, Dalton JD, Girtman K, Mathew S, Ma J, Pounds SB, Su X, Pui CH, Relling MV, Evans WE, Shurtleff SA, Downing JR. 2007. Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia. Nature 446:758–764.
23. Nebral K, Denk D, Attarbaschi A, Konig M, Mann G, Haas OA, Strehl S. 2009. Incidence and diversity of PAX5 fusion genes in childhood acute lymphoblastic leukemia. Leukemia 23:134–143.
24. Neubrand VE, Cesca F, Benfenati F, Schiavo G. 2012. Kidins220/ARMS as a functional mediator of multiple receptor signalling pathways. J Cell Sci 125:1845–1854.
25. O’Brien P, Morin P, Jr., Ouellette RJ, Robichaud GA. 2011. The Pax-5 gene: a pluripotent regulator of B-cell differentiation and cancer disease. Cancer Res 71:7345–7350.
26. Ofverholm I, Tran AN, Heyman M, Zachariadis V, Nordenskjold M, Nordgren A, Barbany G. 2013. Impact of IKZF1 deletions and PAX5 amplifications in pediatric B-cell precursor ALL treated according to NOPHO protocols. Leukemia 27:1936–1939.
27. Roberts KG, Morin RD, Zhang J, Hirst M, Zhao Y, Su X, Chen SC, Payne-Turner D, Churchman ML, Harvey RC, Chen X, Kasap C, Yan C, Becksfort J, Finney RP, Teachey DT, Maude SL, Tse K, Moore R, Jones S, Mungall K, Birol I, Edmonson MN, Hu Y, Buetow KE, Chen IM, Carroll WL, Wei L, Ma J, Kleppe M, Levine RL, Garcia-Manero G, Larsen E, Shah NP, Devidas M, Reaman G, Smith M, Paugh SW, Evans WE, Grupp SA, Jeha S, Pui CH, Gerhard DS, Downing JR, Willman CL, Loh M, Hunger SP, Marra MA, Mullighan CG. 2012. Genetic alterations activating kinase and cytokine receptor signaling in high-risk acute lymphoblastic leukemia. Cancer Cell 22:153–166.
28. Roberts KG, Li Y, Payne-Turner D, Harvey RC, Yang YL, Pei D, McCastlain K, Ding L, Lu C, Song G, Ma J, Becksfort J, Rusch M, Chen SC, Easton J, Cheng J, Boggs K, Santiago-Morales N, Iacobucci I, Fulton RS, Wen J, Valentine M, Cheng C, Paugh SW, Devidas M, Chen IM, Reshmi S, Smith A, Hedlund E, Gupta P, Nagahawatte P, Wu G, Chen X, Yergeau D, Vadodaria B, Mulder H, Winick NJ, Larsen EC, Carroll WL, Heerema NA, Carroll AJ, Grayson G, Tasian SK, Moore AS, Keller F, Frei-Jones M, Whitlock JA, Raetz EA, White DL, Hughes TP, Guidry Auvil JM, Smith MA, Marcucci G, Bloomfield CD, Mrozek K, Kohlschmidt J, Stock W, Kornblau SM, Konopleva M, Paietta E, Pui CH, Jeha S, Relling MV, Evans WE, Gerhard DS, Gastier-Foster JM, Mardis E, Wilson RK, Loh ML, Downing JR, Hunger SP, Willman CL, Zhang J, Mullighan CG. 2014. Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia. N Engl J Med 371:1005–1015.
29. Schinnerl D, Fortschegger K, Kauer M, Marchante JR, Kofler R, Den Boer ML, Strehl S. 2015. The role of the Janus-faced transcription factor PAX5-JAK2 in acute lymphoblastic leukemia. Blood 125:1282–1291.
30. Seda V, Mraz M. 2015. B-cell receptor signalling and its crosstalk with other pathways in normal and malignant cells. Eur J Haematol 94:193–205.
31. Somasundaram R, Prasad MA, Ungerback J, Sigvardsson M. 2015. Transcription factor networks in B-cell differentiation link development to acute lymphoid leukemia. Blood 126:144–152.
32. York RD, Yao H, Dillon T, Ellig CL, Eckert SP, McCleskey EW, Stork PJ. 1998. Rap1 mediates sustained MAP kinase activation induced by nerve growth factor. Nature 392:622–626.
33. Yoshida H, Imamura T, Saito AM, Takahashi Y, Suenobu S, Hasegawa D, Deguchi T, Hashii Y, Kawasaki H, Endo M, Hori H, Suzuki N, Kosaka Y, Kato K, Yumura-Yagi K, Hara J, Oda M, Sato A, Horibe K. 2015. Protracted administration of L-Asparaginase in maintenance phase is the risk factor for hyperglycemia in older patients with pediatric acute lymphoblastic leukemia. PLoS One 10:e0136428.