Preview

Russian Journal of Pediatric Hematology and Oncology

Advanced search

F359C mutation of the BCR-ABL1 gene in adolescent with chronic myeloid leukemia. Case report

https://doi.org/10.21682/2311-1267-2019-6-2-72-75

Abstract

Chronic myeloid leukemia (CML) in children is rare, less than 3 % of all cases of leukemia in pediatric practice. Along with the successes achieved in the treatment of CML with imatinib, it’s necessary to study of molecular factors in predicting resistance to therapy. According to the literature, about 30 % of adult patients with imatinib resistance have point mutations in the kinase domain of BCR-ABL1 gene. The number of reports about mutation spectrum of the BCR-ABL1 gene in children with resistant forms of CML is limited. This article describes the clinical case of secondary resistance to imatinib in a 15-year-old girl with the F359C mutation of BCR-ABL1 gene and a review of the literature.

About the Authors

M. V. Borisevich
Republican Scientific and Practical Center for Pediatric Oncology, Hematology and Immunology, Ministry of Health of the Republic of Belarus
Belarus

Deputy Director for organizational and methodical work 

43 Frunzenskaya St., Borovlyany village, Minsk district, Minsk region, 223053, Republic of Belarus



T. V. Savitskaya
Republican Scientific and Practical Center for Pediatric Oncology, Hematology and Immunology, Ministry of Health of the Republic of Belarus
Belarus

Cand. of Sci. (Biol.), Leading Researcher Research Department 

43 Frunzenskaya St., Borovlyany village, Minsk district, Minsk region, 223053, Republic of Belarus



References

1. Wang X., Zheng B., Li S., Mulvihill J. J., Chen X., Liu H. Automated identification of abnormal metaphase chromosome cells for the detection of chronic myeloid leukemia using microscopic images. J Biomed Opt 2010;15(4):046026. doi: 10.1117/1.3476336.

2. Deininger M.W., Goldman J.M., Melo J.V. The molecular biology of chronic myeloid leukemia. Blood 2000;96(10):3343–56. PMID: 11071626.

3. Suttorp S., Schulze Ph., Glauche I., Gohring G., von Neuhoff N., Metzler M., Sedlacek P., de Bont E., Balduzzi A., Lausen B., Aleinikova O., Sufliarska S., Henze G., Strauss G., Eggert A., Kremens B., Groll A.H., Berthold F., Klein C., Groß-Wieltsch U., Sykora K.W., Borkhardt A., Kulozik A.E., Schrappe M., Nowasz C., Krumbholz M., Tauer J.T., Claviez A., Harbott J., Kreipe H.H., Schlegelberger B., Thiede C. Front-line imatinib treatment in children and adolescents with chronic myeloid leukemia: results from a phase III trial. Leukemia 2018;32(7):1657–69. doi: 10.1038/s41375-018-0179-9.

4. Baccarani M., Pileri S., Steegmann J., Muller M., Soverini S., Dreyling M.; ESMO Guidelines Working Group. Chronic myeloid leukemia: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol 2012;23 Suppl 7:vii72–7. doi:10.1093/annonc/mds228.

5. Куцев С.И., Вельченко М.В. Значение анализа мутаций гена BCR--ABL в оптимизации таргетной терапии хронического миело-лейкоза. Клиническая онкогематология 2008;1(3):190-9. ID: 11670881. [Kutsev S.I., Velchenko M.V. The role of BCR-ABL gene mutation analysis in the optimization of target therapy of chronic myeloid leukemia. Klinicheskaya onkogematologiya = Clinical Oncohematology 2008;1(3):190–9 (In Russ.)].

6. Branford S., Rudzki Z., Walsh S., Parkinson I., Grigg A., Szer J., Taylor K., Herrmann R., Seymour J.F., Arthur C., Joske D., Lynch K., Hughes T. Detection of BCR-ABL mutations in patients with CML treated with imatinib is virtually always accompanied by clinical resistance, and mutations in the ATP phosphate-binding loop (P-loop) are associated with a poor prognosis. Blood 2003;102:276–83. doi: 10.1182/blood-2002-09-2896.

7. Branford S., Rudzki Z., Walsh S., Grigg A., Arthur C., Taylor K., Herrmann R., Lynch K.P., Hughes T.P. High frequency of point mutations clustered within the adenosine triphosphate-binding region of BCR/ABL in patients with chronic myeloid leukemia or Ph-positive acute lymphoblastic leukemia who develop imatinib (STI571) resistance. Blood 2002;99(9):3472–5. PMID: 11964322.

8. Shah N., Nicoll J., Nagar B., Gorre M.E., Paquette R.L., Kuriyan J., Sawyers C.L. Multiple BCR-ABL kinase domain mutations confer polyclonal resistance to the tyrosine kinase inhibitor imatinib (STI571) in chronic phase and blast crisis chronic myeloid leukemia. Cancer Cell 2002;2:117–25. PMID: 12204532.

9. Gambacorti-Passerini C., Gunby R., Piazza R., Galietta A., Rostagno R., Scapozza L. Molecular mechanisms of resistance to imatinib in Philadelphia chromosome-positive leukaemias. Lancet Oncol 2003;4:75–85. PMID: 12573349.

10. Shah N., Sawyers C. Mechanisms of resistance to STI571 in Philadelphia chromosome-associated leukemias. Oncogene 2003;22:7389–95. doi:10.1038/sj.onc.1206942.

11. Al-Ali H., Heinrich M., Lange T., Krahl R., Mueller M., Müller C., Niederwieser D., Druker B.J., Deininger M.W. High incidence of BCR-ABL kinase domain mutations and absence of mutations of the PDGFR and KIT activation loops in CML patients with secondary resistance to imatinib. Hematol J 2004;5(1):55–60. doi: 10.1038/sj.thj.6200319.

12. Hochhaus A., La Rosee P. Imatinib therapy in chronic myelogenous leukemia: strategies to avoid and overcome resistance. Leukemia 2004;18:1321–31. doi: 10.1038/sj.leu.2403426.

13. Soverini S., Colarossi S., Gnani A., Rosti G., Castagnetti F., Poerio A., Iacobucci I., Amabile M., Abruzzese E., Orlandi E., Radaelli F., Ciccone F., Tiribelli M., di Lorenzo R., Caracciolo C., Izzo B., Pane F., Saglio G., Baccarani M., Martinelli G. Contribution of ABL kinase domain mutations to imatinib resistance in different subsets of Philadelphia positive patients: by the GIMEMA Working Party on Chronic Myeloid Leukemia. Clin Cancer Res 2006;12(24):7374–9. doi: 10.1158/1078-0432.CCR-06-1516.

14. Deininger M.W. Optimizing therapy of chronic myeloid leukemia. Exp Hematol 2007;35:144–54. PMID: 17379100.

15. Baccarani M., Saglio G., Goldman J., Hochhaus A., Simonsson B., Appelbaum F., Apperley J., Cervantes F., Cortes J., Deininger M., Gratwohl A., Guilhot F., Horowitz M., Hughes T., Kantarjian H., Larson R., Niederwieser D., Silver R., Hehlmann R. Evolving concepts in the management of chronic myeloid leukemia: recommendations from an expert panel on behalf of the European LeukemiaNet. Blood 2006;108:1809–20. doi: 10.1182/blood-2006-02-005686.

16. Gorre M.E., Mohammed M., Ellwood K., Hsu N., Paquette R., Rao P.N., Sawyers C.L. Clinical resistance to STI-571 cancer therapy caused by BCR-ABL gene mutation or amplification. Science 2001;293:876–80. doi: 10.1126/science.1062538.

17. Liелhwева E.IO., WyXов O.A., J1а3аpева O.B., TypкиHа A.r. МyTа-uии киHа3Hоrо )l,оMеHа rеHа BCR-ABL npи XpоHичеcкоM Mиелолеtl:-ко3е. KлиHичеcка5 оHкоrеMаTолоrи5 2012;5(1):13-21. [Chelysheva E.Yu., Shukhov O.A., Lazareva O.V., Turkina A.G. Mutations in the kinase domain of the BCR-ABL gene in chronic myeloid leukemia. Klinicheskaya onkogematologiya = Clinical Oncohematology 2012;5(1):13–21. (In Russ.)].

18. Hughes T., Deininger M., Hochhaus A., Branford S., Radich J., Kaeda J., Baccarani M., Cortes J., Cross N.C., Druker B.J., Gabert J., Grimwade D., Hehlmann R., Kamel-Reid S., Lipton J.H., Longtine J., Martinelli G., Saglio G., Soverini S., Stock W., Goldman J.M. Monitoring CML patients responding to treatment with tyrosine kinase inhibitors: Review and recommendations for harmonizing current methodology for detecting BCR-ABL transcripts and kinase domain mutations and for expressing results. Blood 2006;108:28–37. doi: 10.1182/blood-2006-01-0092.

19. Hochhaus A., Saglio G., Larson R.A., Kim D.W., Etienne G., Rosti G., De Souza C., Kurokawa M., Kalaycio M.E., Hoenekopp A., Fan X., Shou Y., Kantarjian H.M., Hughes T.P. Nilotinib is associated with a reduced incidence of BCR-ABL mutations vs imatinib in patients with newly diagnosed chronic myeloid leukemia in chronic phase. Blood 2013;121:3703–8. doi:10.1182/blood-2012-04-423418.

20. Hochhaus A., Baccarani M., Deininger M., Apperley J.F., Lipton J.H., Goldberg S.L., Corm S., Shah N.P., Cervantes F., Silver R.T., Niederwieser D., Stone R.M., Dombret H., Larson R.A., Roy L., Hughes T., Müller M.C., Ezzeddine R., Countouriotis A.M., Kantarjian H.M. Dasatinib induces durable cytogenetic responses in patients with chronic myelogenous leukemia in chronic phase with resistance or intolerance to imatinib. Leukemia 2008;22:1200–6. doi: 10.1038/leu.2008.84.

21. Mauro M.J., Baccarani M., Cervantes F., Lipton J.H., Matloub Y., Sinha R., Stone R.M. Dasatinib 2-year efficacy in patients with chronic-phase chronic myelogenous leukemia (CML-CP) with resistance or intolerance to imatinib (START-C). J Clin Oncol 2008;26:abstr. 7009. doi:10.1200/jco.2008.26.15.

22. Yap E., Tumian N.R., Azma R.Z., Sharifah N.A., Salwati S., Hamidah N.H., Elias M.H., Wong C.L. Primary imatinib resistance in chronic myeloid leukemia patients in a developing country: BCR-ABL kinase domain mutations or BCR-ABL independent mechanisms? Malaysian J Pathol 2017;39(2):107–13. PMID: 28866691.

23. Baccarani M., Cortes J., Pane F., Niederwieser D., Saglio G., Apperley J., Cervantes F., Deininger M., Gratwohl A., Guilhot F., Hochhaus A., Horowitz M., Hughes T., Kantarjian H., Larson R., Radich J., Simonsson B., Silver R.T., Goldman J., Hehlmann R. Chronic myeloid leukemia: an update of concepts and management recommendations of European Leukemia Net. J Clin Oncol 2009;27(35):6041–51. doi:10.1200/JCO.2009.25.0779.

24. Gabert J., Beillard E., van der Velden V.H.J., Grimwade D., Pallisgaard N., Barbany G., Cazzaniga G., Cayuela J.M., Cavé H., Pane F., Aerts J.L., De Micheli D., Thirion X., Pradel V., González M., Viehmann S., Malec M., Saglio G., van Dongen J.J. Standardization and quality control studies of ‘real-time’ quantitative reverse transcriptase polymerase chain reaction of fusion gene transcripts for residual disease detection in leukemia. A Europe Against Cancer Program. Leukemia 2003;17:2318–57. doi:10.1038/sj.leu.2403135.

25. Guilhot F., Apperley J., Kim D.W., Bullorsky E.O., Baccarani M., Roboz G.J., Amadori S., de Souza C.A., Lipton J.H., Hochhaus A., Heim D., Larson R.A., Branford S., Muller M.C., Agarwal P., Gollerkeri A., Talpaz M. Dasatinib induces significant hematologic and cytogenetic responses in patients with imatinib-resistant or –intolerant chronic myeloid leukemia in accelerated phase. Blood 2007;109:4143–50. doi: 10.1182/blood-2006-09-046839.


Review

For citations:


Borisevich M.V., Savitskaya T.V. F359C mutation of the BCR-ABL1 gene in adolescent with chronic myeloid leukemia. Case report. Russian Journal of Pediatric Hematology and Oncology. 2019;6(2):72-75. (In Russ.) https://doi.org/10.21682/2311-1267-2019-6-2-72-75

Views: 853


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 2311-1267 (Print)
ISSN 2413-5496 (Online)
X