BẠCH CẦU MẠN DÒNG TỦY Ở TRẺ EM: HIỆN TẠI VÀ THÁCH THỨC TRONG ĐIỀU TRỊ
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Tóm tắt
Bệnh bạch cầu mạn dòng tủy (BCMDT) thường đặc trưng với tình trạng tăng bạch cầu hạt
mất kiểm soát nhưng lại giảm quá trình chết theo chương trình. Bệnh được gây ra bởi nhiễm sắc
thể Philadelphia (t[9;22]), tạo điều kiện cho tổ hợp gen BCR-ABL hình thành. BCDMT ở trẻ em có
một số hình thái khác người lớn như triệu chứng không điển hình và tỷ lệ mang đột biến ASXL1
kèm theo cao, có liên quan đến nguy cơ tiến triển bệnh nhanh hơn. Điều trị chủ yếu tập trung
vào việc sử dụng các thuốc ức chế tyrosine kinase (TKI) và theo dõi đáp ứng sinh học phân tử
mỗi 3 tháng trong suốt quá trình điều trị. Mặc dù thế, điều trị BCMDT trẻ em cũng gặp nhiều khó
khăn như sự kém tuân thủ điều trị, tác dụng phụ lâu dài, khả năng ngưng điều trị vẫn chưa khả
quan. Ghép tế bào gốc đóng vai trò quan trọng giúp trẻ em BCMDT không phải phụ thuộc TKI
suốt đời, nhưng chỉ định ghép vẫn khá hạn chế do biến chứng và tử vong còn cao.
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Tài liệu tham khảo
1. Howlader N, et al. SEER Cancer Statistics
Review, 1975-2017, National Cancer Institute.
Bethesda, MD, https://seer.cancer.gov/
csr/1975_2017/, based on November 2019 SEER
data submission, posted to the SEER web site,
April 2020.
2. Bower, H., et al. Life Expectancy of Patients
With Chronic Myeloid Leukemia Approaches
the Life Expectancy of the General Population.
Journal of Clinical Oncology, 2016. 34(24): p.
2851-2857.
3. Knöfl er, R., et al. Bleeding signs due to
acquired von Willebrand syndrome at diagnosis
of chronic myeloid leukaemia in children. British
Journal of Haematology, 2019. 188(5): p. 701-706.
4. Hochhaus, A., et al. European LeukemiaNet
2020 recommendations for treating chronic myeloid
leukemia. Leukemia, 2020. 34(4): p. 966-984.
5. Arber, D.A., et al. The 2016 revision to the
World Health Organization classifi cation of
myeloid neoplasms and acute leukemia. Blood,
2016. 127(20): p. 2391-2405.
6. Millot, F., et al. Favourable outcome of de
novo advanced phases of childhood chronic
myeloid leukaemia. European Journal of Cancer,
2019. 115: p. 17-23.
7. Ernst, T, et al. Frequent ASXL1 mutations in
children and young adults with chronic myeloid
leukemia. Leukemia, 2018. 32(9): p. 2046-2049.
8. Shih, A.H, et al. The role of mutations in
epigenetic regulators in myeloid malignancies.
Nature Reviews Cancer, 2012. 12(9): p. 599-612.
9. Branford, S, et al. Laying the foundation for
genomically-based risk assessment in chronic
myeloid leukemia. Leukemia, 2019. 33(8): p.
1835-1850.
10. Abdel-Wahab, O. and A. Dey, The ASXL–
BAP1 axis: new factors in myelopoiesis, cancer
and epigenetics. Leukemia, 2012. 27(1): p. 10-15.
11. Suttorp, M., et al. Front-line imatinib
treatment in children and adolescents with
chronic myeloid leukemia: results from a phase III
trial. Leukemia, 2018. 32(7): p. 1657-1669.
12. Millot, F., et al. Imatinib Is Eff ective in
Children With Previously Untreated Chronic
Myelogenous Leukemia in Early Chronic Phase:
Results of the French National Phase IV Trial.
Journal of Clinical Oncology, 2011. 29(20): p.
2827-2832.
13. Hochhaus, A., et al. Long-term benefi ts
and risks of frontline nilotinib vs imatinib for
chronic myeloid leukemia in chronic phase:
5-year update of the randomized ENESTnd trial.
Leukemia, 2016. 30(5): p. 1044-1054.
14. Cortes, J.E., et al. Final 5-Year Study Results
of DASISION: The Dasatinib Versus Imatinib Study
in Treatment-Naïve Chronic Myeloid Leukemia
Patients Trial. Journal of Clinical Oncology, 2016.
34(20): p. 2333-2340.
15. Cortes, J.E., et al. Bosutinib Versus Imatinib
for Newly Diagnosed Chronic Myeloid Leukemia:
Results From the Randomized BFORE Trial.
Journal of Clinical Oncology, 2018. 36(3): p. 231-
237.
16. Gore, L., et al. Dasatinib in Pediatric Patients
With Chronic Myeloid Leukemia in Chronic Phase:
Results From a Phase II Trial. Journal of Clinical
Oncology, 2018. 36(13): p. 1330-1338.
17. Hijiya, N., et al. Phase 2 study of
nilotinib in pediatric patients with Philadelphia
chromosome–positive chronic myeloid leukemia.
Blood, 2019. 134(23): p. 2036-2045.
18. Champagne, M.A., et al. Higher dose
imatinib for children with de novo chronic phase
chronic myelogenous leukemia: A report from
the Children’s Oncology Group. Pediatric Blood &
Cancer, 2011. 57(1): p. 56-62.
19. Branford, S., J.V. Melo, and T.P. Hughes,
Selecting optimal second-line tyrosine kinase
inhibitor therapy for chronic myeloid leukemia
patients after imatinib failure: does the BCRABL
mutation status really matter? Blood, 2009.
114(27): p. 5426-5435.
20. Gardiner, P. and L. Dvorkin, Promoting
medication adherence in children. Am Fam
Physician, 2006. 74(5): p. 793-8.
21. Mancini, J., et al. Adherence to leukemia
maintenance therapy: a comparative study
among children, adolescents, and adults. Pediatr
Hematol Oncol, 2012. 29(5): p. 428-39.
22. Geissler, J., et al. Factors infl uencing
adherence in CML and ways to improvement:
Results of a patient-driven survey of 2546 patients
in 63 countries. Journal of Cancer Research and
Clinical Oncology, 2017. 143(7): p. 1167-1176.
23. Marin, D., et al. Adherence Is the Critical
Factor for Achieving Molecular Responses in
Patients With Chronic Myeloid Leukemia Who
Achieve Complete Cytogenetic Responses on
Imatinib. Journal of Clinical Oncology, 2010.
28(14): p. 2381-2388.
24. Effi cace, F., et al. Which health-related
quality of life aspects are important to patients
with chronic myeloid leukemia receiving targeted
therapies and to health care professionals?
Annals of Hematology, 2012. 91(9): p. 1371-1381.
25. Saussele, S., et al. Discontinuation of
tyrosine kinase inhibitor therapy in chronic
myeloid leukaemia (EURO-SKI): a prespecifi ed
interim analysis of a prospective, multicentre,
non-randomised, trial. The Lancet Oncology,
2018. 19(6): p. 747-757.
26. Saußele, S., et al. The concept of treatmentfree
remission in chronic myeloid leukemia.
Leukemia, 2016. 30(8): p. 1638-1647.
27. Giona, F., et al. Treatment-free remission
after imatinib discontinuation is possible
in paediatric patients with chronic myeloid
leukaemia. British Journal of Haematology, 2015.
168(2): p. 305-308.
28. Claudiani, S., et al. Cognitive dysfunction
after withdrawal of tyrosine kinase inhibitor
therapy in chronic myeloid leukaemia. American
Journal of Hematology, 2016. 91(11): p. E480 -
E481.
29. Chaudhury, S, et al. Outcomes of
Allogeneic Hematopoietic Cell Transplantation in
Children and Young Adults with Chronic Myeloid
Leukemia: A CIBMTR Cohort Analysis. Biology of
Blood and Marrow Transplantation, 2016. 22(6):
p. 1056-1064.
30. Kurosawa, H, et al. Sequential use of
second-generation tyrosine kinase inhibitors
following imatinib therapy in pediatric chronic
myeloid leukemia: A report from the Japanese
Pediatric Leukemia/Lymphoma Study Group.
Pediatric Blood & Cancer, 2018. 65(12).
Review, 1975-2017, National Cancer Institute.
Bethesda, MD, https://seer.cancer.gov/
csr/1975_2017/, based on November 2019 SEER
data submission, posted to the SEER web site,
April 2020.
2. Bower, H., et al. Life Expectancy of Patients
With Chronic Myeloid Leukemia Approaches
the Life Expectancy of the General Population.
Journal of Clinical Oncology, 2016. 34(24): p.
2851-2857.
3. Knöfl er, R., et al. Bleeding signs due to
acquired von Willebrand syndrome at diagnosis
of chronic myeloid leukaemia in children. British
Journal of Haematology, 2019. 188(5): p. 701-706.
4. Hochhaus, A., et al. European LeukemiaNet
2020 recommendations for treating chronic myeloid
leukemia. Leukemia, 2020. 34(4): p. 966-984.
5. Arber, D.A., et al. The 2016 revision to the
World Health Organization classifi cation of
myeloid neoplasms and acute leukemia. Blood,
2016. 127(20): p. 2391-2405.
6. Millot, F., et al. Favourable outcome of de
novo advanced phases of childhood chronic
myeloid leukaemia. European Journal of Cancer,
2019. 115: p. 17-23.
7. Ernst, T, et al. Frequent ASXL1 mutations in
children and young adults with chronic myeloid
leukemia. Leukemia, 2018. 32(9): p. 2046-2049.
8. Shih, A.H, et al. The role of mutations in
epigenetic regulators in myeloid malignancies.
Nature Reviews Cancer, 2012. 12(9): p. 599-612.
9. Branford, S, et al. Laying the foundation for
genomically-based risk assessment in chronic
myeloid leukemia. Leukemia, 2019. 33(8): p.
1835-1850.
10. Abdel-Wahab, O. and A. Dey, The ASXL–
BAP1 axis: new factors in myelopoiesis, cancer
and epigenetics. Leukemia, 2012. 27(1): p. 10-15.
11. Suttorp, M., et al. Front-line imatinib
treatment in children and adolescents with
chronic myeloid leukemia: results from a phase III
trial. Leukemia, 2018. 32(7): p. 1657-1669.
12. Millot, F., et al. Imatinib Is Eff ective in
Children With Previously Untreated Chronic
Myelogenous Leukemia in Early Chronic Phase:
Results of the French National Phase IV Trial.
Journal of Clinical Oncology, 2011. 29(20): p.
2827-2832.
13. Hochhaus, A., et al. Long-term benefi ts
and risks of frontline nilotinib vs imatinib for
chronic myeloid leukemia in chronic phase:
5-year update of the randomized ENESTnd trial.
Leukemia, 2016. 30(5): p. 1044-1054.
14. Cortes, J.E., et al. Final 5-Year Study Results
of DASISION: The Dasatinib Versus Imatinib Study
in Treatment-Naïve Chronic Myeloid Leukemia
Patients Trial. Journal of Clinical Oncology, 2016.
34(20): p. 2333-2340.
15. Cortes, J.E., et al. Bosutinib Versus Imatinib
for Newly Diagnosed Chronic Myeloid Leukemia:
Results From the Randomized BFORE Trial.
Journal of Clinical Oncology, 2018. 36(3): p. 231-
237.
16. Gore, L., et al. Dasatinib in Pediatric Patients
With Chronic Myeloid Leukemia in Chronic Phase:
Results From a Phase II Trial. Journal of Clinical
Oncology, 2018. 36(13): p. 1330-1338.
17. Hijiya, N., et al. Phase 2 study of
nilotinib in pediatric patients with Philadelphia
chromosome–positive chronic myeloid leukemia.
Blood, 2019. 134(23): p. 2036-2045.
18. Champagne, M.A., et al. Higher dose
imatinib for children with de novo chronic phase
chronic myelogenous leukemia: A report from
the Children’s Oncology Group. Pediatric Blood &
Cancer, 2011. 57(1): p. 56-62.
19. Branford, S., J.V. Melo, and T.P. Hughes,
Selecting optimal second-line tyrosine kinase
inhibitor therapy for chronic myeloid leukemia
patients after imatinib failure: does the BCRABL
mutation status really matter? Blood, 2009.
114(27): p. 5426-5435.
20. Gardiner, P. and L. Dvorkin, Promoting
medication adherence in children. Am Fam
Physician, 2006. 74(5): p. 793-8.
21. Mancini, J., et al. Adherence to leukemia
maintenance therapy: a comparative study
among children, adolescents, and adults. Pediatr
Hematol Oncol, 2012. 29(5): p. 428-39.
22. Geissler, J., et al. Factors infl uencing
adherence in CML and ways to improvement:
Results of a patient-driven survey of 2546 patients
in 63 countries. Journal of Cancer Research and
Clinical Oncology, 2017. 143(7): p. 1167-1176.
23. Marin, D., et al. Adherence Is the Critical
Factor for Achieving Molecular Responses in
Patients With Chronic Myeloid Leukemia Who
Achieve Complete Cytogenetic Responses on
Imatinib. Journal of Clinical Oncology, 2010.
28(14): p. 2381-2388.
24. Effi cace, F., et al. Which health-related
quality of life aspects are important to patients
with chronic myeloid leukemia receiving targeted
therapies and to health care professionals?
Annals of Hematology, 2012. 91(9): p. 1371-1381.
25. Saussele, S., et al. Discontinuation of
tyrosine kinase inhibitor therapy in chronic
myeloid leukaemia (EURO-SKI): a prespecifi ed
interim analysis of a prospective, multicentre,
non-randomised, trial. The Lancet Oncology,
2018. 19(6): p. 747-757.
26. Saußele, S., et al. The concept of treatmentfree
remission in chronic myeloid leukemia.
Leukemia, 2016. 30(8): p. 1638-1647.
27. Giona, F., et al. Treatment-free remission
after imatinib discontinuation is possible
in paediatric patients with chronic myeloid
leukaemia. British Journal of Haematology, 2015.
168(2): p. 305-308.
28. Claudiani, S., et al. Cognitive dysfunction
after withdrawal of tyrosine kinase inhibitor
therapy in chronic myeloid leukaemia. American
Journal of Hematology, 2016. 91(11): p. E480 -
E481.
29. Chaudhury, S, et al. Outcomes of
Allogeneic Hematopoietic Cell Transplantation in
Children and Young Adults with Chronic Myeloid
Leukemia: A CIBMTR Cohort Analysis. Biology of
Blood and Marrow Transplantation, 2016. 22(6):
p. 1056-1064.
30. Kurosawa, H, et al. Sequential use of
second-generation tyrosine kinase inhibitors
following imatinib therapy in pediatric chronic
myeloid leukemia: A report from the Japanese
Pediatric Leukemia/Lymphoma Study Group.
Pediatric Blood & Cancer, 2018. 65(12).