Disease |
B-lymphoblastic leukemia, BCR-ABL1-like (WHO, 2016). |
Epidemiology | Only 2 cases described: a 20-years-old man (Roberts et al, 2014; Raca et al., 2015; Roberts et al., 2017) and a second patient without further data (case A530 in Boer et al., 2017). These cases were first classified as B-ALL, and reclassified later as "B-ALL, BCR-ABL1-like" after characterization [CHU1]of the RCSD1/ABL2 fusion. The RCSD1/ABL2 case described by Roberts et al, 2014 was part of a study of 1665 B-ALL cases, three of which with ABL2 fusions. In the case described in Boer et al., 2017, the RCDS1/ABL2 fusion case was identified in a series of 77 BCR-ABL1-like B-ALL cases. |
Treatment | The 20-year-old case received induction therapy with vincristine/peg-asparaginase/daunorubicin/prednisone with intrathecal cytorabine and methotrexate; there was no response post induction at days 15 and 29). Additional therapy included Cytoxan, cytarabine, 6-mercaptopurine, decadron, vincristine, peg-asparaginase and intrathecal therapy with methotrexate (8-week cycle) and produced a morphologic remission but high-level minimal residual disease (MRD) was detected by flow cytometry. The patient received a hematopoietic stem cell transplant (total body irradiation and etoposide based preparative regimen) from an unrelated donor (Raca et al., 2015). The other case was treated according to the ALL10-HR protocol. There was a good response to prednisone, and high MRD (Boer et al., 2017). |
Evolution | The 20-year-old case was in complete remission 8 month post-transplant and with no evidence of MRD (Raca et al., 2015). The other patient has been followed up for 3-4 years (Boer et al., 2017). |
Prognosis | The two cases showed a IKZF1 deletion. Roberts et al. showed a tyrosine kinase inhibitors sensitivity when the RCSD1/ABL2 fusion was tested in Ba/F3 cells and in vivo mice models, and dasatinib was proposed to be evaluated in the future treatment of BCR-ABL1-like B-ALL with ABL-class fusions, especially for RCSD1/ABL2 fusion)(Roberts et al, 2017) |
Tyrosine kinase fusion genes in pediatric BCR-ABL1-like acute lymphoblastic leukemia. |
Boer JM, Steeghs EM, Marchante JR, Boeree A, Beaudoin JJ, Beverloo HB, Kuiper RP, Escherich G, van der Velden VH, van der Schoot CE, de Groot-Kruseman HA, Pieters R, den Boer ML. |
Oncotarget. 2017 Jan 17;8(3):4618-4628. |
PMID 27855558 |
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The CapZ interacting protein Rcsd1 is required for cardiogenesis downstream of Wnt11a in Xenopus laevis. |
Hempel A, Kühl SJ, Rothe M, Rao Tata P, Sirbu IO, Vainio SJ, Kühl M. |
Dev Biol. 2017 Apr 1;424(1):28-39. doi: 10.1016/j.ydbio.2017.02.014. Epub 2017 Feb 22. |
PMID 28237811 |
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A Role for the Non-Receptor Tyrosine Kinase Abl2/Arg in Experimental Neuroinflammation. |
Jacobsen FA, Scherer AN, Mouritsen J, Bragadóttir H, Thomas Bäckström B, Sardar S, Holmberg D, Koleske AJ, Andersson . |
J Neuroimmune Pharmacol. 2018 Jun;13(2):265-276. doi: 10.1007/s11481-018-9783-8. Epub 2018 Mar 17. |
PMID 29550892 |
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ABL2 suppresses FLT3-ITD-induced cell proliferation through negative regulation of AKT signaling. |
Kazi JU, Rupar K, Marhäll A, Moharram SA, Khanum F, Shah K, Gazi M, Nagaraj SR, Sun J, Chougule RA, Rönnstrand L. |
Oncotarget. 2017 Feb 14;8(7):12194-12202. doi: 10.18632/oncotarget.14577. |
PMID 28086240 |
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RCSD1-ABL2 fusion resulting from a complex chromosomal rearrangement in high-risk B-cell acute lymphoblastic leukemia. |
Raca G, Gurbuxani S, Zhang Z, Li Z, Sukhanova M, McNeer J, Stock W. |
Leuk Lymphoma. 2015 Apr;56(4):1145-7. |
PMID 25098428 |
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Oncogenic role and therapeutic targeting of ABL-class and JAK-STAT activating kinase alterations in Ph-like ALL. |
Roberts KG, Yang YL, Payne-Turner D, Lin W, Files JK, Dickerson K, Gu Z, Taunton J, Janke LJ, Chen T, Loh ML, Hunger SP, Mullighan CG. |
Blood Adv. 2017 Aug 30;1(20):1657-1671. |
PMID 29296813 |
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Combinatorial proteomic analysis of intercellular signaling applied to the CD28 T-cell costimulatory receptor. |
Tian R, Wang H, Gish GD, Petsalaki E, Pasculescu A, Shi Y, Mollenauer M, Bagshaw RD, Yosef N, Hunter T, Gingras AC, Weiss A, Pawson T. |
Proc Natl Acad Sci U S A. 2015 Mar 31;112(13):E1594-603. doi: 10.1073/pnas.1503286112. Epub 2015 Mar 17. |
PMID 25829543 |
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