Журналов:     Статей:        

Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2018; 17: 37-45

Внутрихромосомная амплификация 21q (iAMP21) как маркер неблагоприятного прогноза при острых лимфобластных лейкозах из В-линейных предшественников

Ольшанская Ю.В. , Казакова А.Н. , Червова А.А. , Румянцева Ю.В. , Литвинов Д.В. , Зеркаленкова Е.А. , Солдаткина О.И. , Лагойко С.Н. , Мякова Н.В. , Хенце Г. ., Румянцев А.Г. , Карачунский А.И.

https://doi.org/10.24287/1726-1708-2018-17-1-37-45

Аннотация

Детские острые лимфобластные лейкозы из В-линейных предшественников (ВП-ОЛЛ) с внутрихромосомной амплификацией участка длинного плеча хромосомы 21 (iAMP21 - intrachromosomal amplification of chromosome 21) имеют крайне неблагоприятный прогноз при терапии согласно группе стандартного риска преимущественно за счет высокой частоты развития рецидивов. Терапия в соответствии с высокой группой риска кардинально меняет прогноз заболевания. В нашем исследовании проанализированы клинические особенности и результаты терапии детей с ВП-ОЛЛ и iAMP21, получавших лечение в рамках оригинального национального протокола лечения ОЛЛ у детей Москва-Берлин 2008 (ALL-MВ 2008). Большинство пациентов было стратифицировано в группу стандартного и промежуточного рисков. При ВП-ОЛЛ с iAMP21 7-летняя бессобытийная выживаемость составила 0,48  0,24 против 0,87  0,2 в группе остальных пациентов; кумулятивная вероятность развития рецидива - 0,41  0,24 и 0,07  0,2 соответственно. Данная группа ВП-ОЛЛ требует изменения подхода к стратификации на группы риска и поиска новых подходов к терапии. Для точного и своевременного выявления iAMP21 необходимо исследование методом FISH в дебюте заболевания.
Список литературы

1. Heerema N.A., Carroll A.J., Devidas M., Loh M.L., Borowitz M.J., Gastier-Foster J.M., et al. Intrachromosomal amplification of chromosome 21 is associated with inferior outcomes in children with acute lymphoblastic leukemia treated in contemporary standard-risk children's oncology group studies: a report from the children's oncology group. J Clin Oncol 2013; 31 (27): 3397-402.

2. Moorman A.V., Richards S.M., Robin-son H.M., Strefford J.C., Gibson B.E., Kinsey S.E., et al. UK Medical Research Council (MRC)/National Cancer Research Institute (NCRI) Childhood Leukaemia Working Party (CLWP). Prognosis of children with acute lymphoblastic leukemia (ALL) and intrachromosomal amplification of chromosome 21 (iAMP21). Blood 2007; 109 (6): 2327-30.

3. Dubé I.D., el-Solh H. An apparent tandem quadruplication of chromosome 21 in a case of childhood acute lymphoblastic leukemia. Cancer Genet Cytogenet 1986; 23 (3): 253-6.

4. Baialardo E.M., Felice M.S., Rossi J., Barreiro C., Gallego M.S. Tandem triplication and quadruplication of chromosome 21 in childhood acute lymphoblastic leukemia. Cancer Genet Cytogenet 1996; 92 (1): 43-5.

5. Busson-Le Coniat M., Nguyen Khac F., Daniel M.T., Bernard O.A., Berger R. Chromosome 21 abnormalities with AML1 amplification in acute lymphoblastic leukemia. Genes Chromosomes Cancer 2001; 32 (3): 244-9.

6. Mathew S., Rao P.H., Dalton J., Dow-ning J.R., Raimondi S.C. Multicolor spectral karyotyping identifies novel translocations in childhood acute lymphoblastic leukemia. Leukemia 2001; 15 (3): 468-72.

7. Soulier J., Trakhtenbrot L., Najfeld V., Lipton J.M., Mathew S., Avet-Loiseau H., et al. Amplification of band q22 of chromosome 21, including AML1, in older children with acute lymphoblastic leukemia: an emerging molecular cytogenetic subgroup. Leukemia 2003; 17 (8): 1679-82.

8. Harewood L., Robinson H., Harris R., Al-Obaidi M.J., Jalali G.R., Martineau M., et al. Amplification of AML1 on a duplicated chromosome 21 in acute lymphoblastic leukemia: a study of 20 cases. Leukemia 2003; 17 (3): 547-53.

9. Robinson H.M., Broadfield Z.J., Cheung K.L., Harewood L., Harris R.L., Jalali G.R., et al. Amplification of AML1 in acute lymphoblastic leukemia is associated with a poor outcome. Leukemia 2003; 17 (11): 2249-50.

10. Harrison C.J., Moorman A.V., Schwab C., Carroll A.J., Raetz E.A., Devidas M., et al. Ponte di Legno International Workshop in Childhood Acute Lymphoblastic Leukemia. An international study of intrachromosomal amplification of chromosome 21 (iAMP21): cytogenetic characterization and outcome. Leukemia 2014; 28(5): 1015-21.

11. Rand V., Parker H., Russell L.J., Schwab C., Ensor H., Irving J., et al. Genomic characterization implicates iAMP21 as a likely primary genetic event in childhood B-cell precursor acute lymphoblastic leukemia. Blood 2011; 117 (25): 6848-55.

12. Gu J., Reynolds A., Fang L., DeGraffenreid C., Sterns K., Patel K.R., et al. Coexistence of iAMP21 and ETV6-RUNX1 fusion in an adolescent with B cell acute lymphoblastic leukemia: literature review of six additional cases. MolCytogenet 2016; 9: 84.

13. Strefford J.C., van Delft F.W., Robinson H.M., Worley H., Yiannikouris O., Selzer R., et al. Complex genomic alterations and gene expression in acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21. Proc Natl Acad Sci USA. 2006; 103 (21): 8167-72.

14. Ryan S.L., Matheson E., Grossmann V., Sinclair P., Bashton M., Schwab C., et al. The role of the RAS pathway in iAMP21-ALL. 2016; 30 (9): 1824-31.

15. Harrison C.J. Blood Spotlight on iAMP21 acute lymphoblastic leukemia (ALL), a high-risk pediatric disease. Blood 2015; 125 (9): 1383-6.

16. Kuchinskaya E., Nordgren A., Heyman M., Schoumans J., Corcoran M., Staaf J., et al. Tiling-resolution array-CGH reveals the pattern of DNA copy number alterations in acute lymphoblastic leukemia with 21q amplification: the result of telomere dysfunction and breakage/fusion/breakage cycles? Leukemia 2007; 21 (6): 1327-30.

17. Bennett J., Catovsky D., Daniel M., Flandrin G., Galton D., Gralnick H., et al. Proposals for the classification of the acute leukaemias. French-American-British (FAB) co-operative group. Br J Haematol 1976; 33 (4): 451-8.

18. Bene M.C., Castoldi G., Knapp W., Ludwig W.D., Matutes E., Orfao A., et al. Proposals for the immunological classification of acute leukemias. European Group for the Immunological Characterization of Leukemias (EGIL). Leukemia 1995; 9(10): 1783-6.

19. Béné M.C., Nebe T., Bettelheim P., Buldini B., Bumbea H., Kern W., et al. Immunophenotyping of acute leukemia and lymphoproliferative disorders: a consensus proposal of the European LeukemiaNet Work Package 10. Leukemia 2011; 25(4): 567-74.

20. ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013) Recommendations of the International Standing Committee on Human Cytogenetic Nomenclature (ed.: L.G. Shaffer, J. McGowan-Jordan, M. Schmid). Basel: Karger, 2013.

21. Johnson R.C., Weinberg O.K., Cascio M.J., Dahl G.V., Mitton B.A., Silverman L.B., et al. Cytogenetic Variation of B-Lymphoblastic Leukemia With Intrachromosomal Amplification of Chromosome 21 (iAMP21): A Multi-Institutional Series Review. Am J Pathol 2015; 144 (1): 103-12.

22. Moorman A.V., Robinson H., Schwab C., Richards S.M., Hancock J., Mitchell C.D., et al. Risk-directed treatment intensification significantly reduces the risk of relapse among children and adolescents with acute lymphoblastic leukemia and intrachromosomal amplification of chromosome 21: a comparison of the MRC ALL97/99 and U.KALL2003 trials.Clin Oncol 2013; 31 (27): 3389-96.

23. Attarbaschi A., Mann G., Panzer-Grümayer R., Röttgers S., Steiner M., König M.,et al. Minimal residual disease values discriminate between low and high relapse risk in children with B-cell precursor acute lymphoblastic leukemia and an intrachromosomal amplification of chromosome 21: the Austrian and German acute lymphoblastic leukemia Berlin-Frankfurt-Munster (ALL-BFM) trials. J Clin Oncol 2008; 26 (18): 3046-50.

Pediatric Hematology/Oncology and Immunopathology. 2018; 17: 37-45

Intrachromosomal amplification of chromosome 21 (iAMP21) is the marker of unfavorable prognosis in childhood B-cell precursor acute lymphoblastic leukemia

Olshanskaya Yu. V., Kazakova A. N., Chervova A. A., Rumiantseva J. V., Litvinov D. V., Zerkalenkova E. A., Soldatkina O. I., Lagoiko S. N., Myakova N. V., Henze G. , Rumiantsev A. G., Karachunskii A. I.

https://doi.org/10.24287/1726-1708-2018-17-1-37-45

Abstract

Childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL) with intrachromosomal amplification of chromosome 21 (iAMP21) has very unfavorable prognosis when treated according as standard risk group, mainly due to high risk of relapce. The outcome is improoving dramatically when the patients were treated as high risk. In our study we analyzed clinical parameters and outcome in children with BCP-ALL and iAMP21 according to trial Moscow-Berlin 2008 (ALL-MB 2008). The majority of patients were stratified in standard and intermediate risk group. Seven years event free survival (EFS) in patients with iAMP21 and without iAMP21 was 0.48 ± 0.24 and 0,87 ± 0,2 respectively with cumulative incidence of relapse 0.41 ± 0.24 и 0.07 ± 0.2. BCP-ALL with iAMP21 needs some changes in current stratification strategy and new approaches to treatment. For faster and accurate detection of iAMP21 evaluation by FISH technique must be applied.

References

1. Heerema N.A., Carroll A.J., Devidas M., Loh M.L., Borowitz M.J., Gastier-Foster J.M., et al. Intrachromosomal amplification of chromosome 21 is associated with inferior outcomes in children with acute lymphoblastic leukemia treated in contemporary standard-risk children's oncology group studies: a report from the children's oncology group. J Clin Oncol 2013; 31 (27): 3397-402.

2. Moorman A.V., Richards S.M., Robin-son H.M., Strefford J.C., Gibson B.E., Kinsey S.E., et al. UK Medical Research Council (MRC)/National Cancer Research Institute (NCRI) Childhood Leukaemia Working Party (CLWP). Prognosis of children with acute lymphoblastic leukemia (ALL) and intrachromosomal amplification of chromosome 21 (iAMP21). Blood 2007; 109 (6): 2327-30.

3. Dubé I.D., el-Solh H. An apparent tandem quadruplication of chromosome 21 in a case of childhood acute lymphoblastic leukemia. Cancer Genet Cytogenet 1986; 23 (3): 253-6.

4. Baialardo E.M., Felice M.S., Rossi J., Barreiro C., Gallego M.S. Tandem triplication and quadruplication of chromosome 21 in childhood acute lymphoblastic leukemia. Cancer Genet Cytogenet 1996; 92 (1): 43-5.

5. Busson-Le Coniat M., Nguyen Khac F., Daniel M.T., Bernard O.A., Berger R. Chromosome 21 abnormalities with AML1 amplification in acute lymphoblastic leukemia. Genes Chromosomes Cancer 2001; 32 (3): 244-9.

6. Mathew S., Rao P.H., Dalton J., Dow-ning J.R., Raimondi S.C. Multicolor spectral karyotyping identifies novel translocations in childhood acute lymphoblastic leukemia. Leukemia 2001; 15 (3): 468-72.

7. Soulier J., Trakhtenbrot L., Najfeld V., Lipton J.M., Mathew S., Avet-Loiseau H., et al. Amplification of band q22 of chromosome 21, including AML1, in older children with acute lymphoblastic leukemia: an emerging molecular cytogenetic subgroup. Leukemia 2003; 17 (8): 1679-82.

8. Harewood L., Robinson H., Harris R., Al-Obaidi M.J., Jalali G.R., Martineau M., et al. Amplification of AML1 on a duplicated chromosome 21 in acute lymphoblastic leukemia: a study of 20 cases. Leukemia 2003; 17 (3): 547-53.

9. Robinson H.M., Broadfield Z.J., Cheung K.L., Harewood L., Harris R.L., Jalali G.R., et al. Amplification of AML1 in acute lymphoblastic leukemia is associated with a poor outcome. Leukemia 2003; 17 (11): 2249-50.

10. Harrison C.J., Moorman A.V., Schwab C., Carroll A.J., Raetz E.A., Devidas M., et al. Ponte di Legno International Workshop in Childhood Acute Lymphoblastic Leukemia. An international study of intrachromosomal amplification of chromosome 21 (iAMP21): cytogenetic characterization and outcome. Leukemia 2014; 28(5): 1015-21.

11. Rand V., Parker H., Russell L.J., Schwab C., Ensor H., Irving J., et al. Genomic characterization implicates iAMP21 as a likely primary genetic event in childhood B-cell precursor acute lymphoblastic leukemia. Blood 2011; 117 (25): 6848-55.

12. Gu J., Reynolds A., Fang L., DeGraffenreid C., Sterns K., Patel K.R., et al. Coexistence of iAMP21 and ETV6-RUNX1 fusion in an adolescent with B cell acute lymphoblastic leukemia: literature review of six additional cases. MolCytogenet 2016; 9: 84.

13. Strefford J.C., van Delft F.W., Robinson H.M., Worley H., Yiannikouris O., Selzer R., et al. Complex genomic alterations and gene expression in acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21. Proc Natl Acad Sci USA. 2006; 103 (21): 8167-72.

14. Ryan S.L., Matheson E., Grossmann V., Sinclair P., Bashton M., Schwab C., et al. The role of the RAS pathway in iAMP21-ALL. 2016; 30 (9): 1824-31.

15. Harrison C.J. Blood Spotlight on iAMP21 acute lymphoblastic leukemia (ALL), a high-risk pediatric disease. Blood 2015; 125 (9): 1383-6.

16. Kuchinskaya E., Nordgren A., Heyman M., Schoumans J., Corcoran M., Staaf J., et al. Tiling-resolution array-CGH reveals the pattern of DNA copy number alterations in acute lymphoblastic leukemia with 21q amplification: the result of telomere dysfunction and breakage/fusion/breakage cycles? Leukemia 2007; 21 (6): 1327-30.

17. Bennett J., Catovsky D., Daniel M., Flandrin G., Galton D., Gralnick H., et al. Proposals for the classification of the acute leukaemias. French-American-British (FAB) co-operative group. Br J Haematol 1976; 33 (4): 451-8.

18. Bene M.C., Castoldi G., Knapp W., Ludwig W.D., Matutes E., Orfao A., et al. Proposals for the immunological classification of acute leukemias. European Group for the Immunological Characterization of Leukemias (EGIL). Leukemia 1995; 9(10): 1783-6.

19. Béné M.C., Nebe T., Bettelheim P., Buldini B., Bumbea H., Kern W., et al. Immunophenotyping of acute leukemia and lymphoproliferative disorders: a consensus proposal of the European LeukemiaNet Work Package 10. Leukemia 2011; 25(4): 567-74.

20. ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013) Recommendations of the International Standing Committee on Human Cytogenetic Nomenclature (ed.: L.G. Shaffer, J. McGowan-Jordan, M. Schmid). Basel: Karger, 2013.

21. Johnson R.C., Weinberg O.K., Cascio M.J., Dahl G.V., Mitton B.A., Silverman L.B., et al. Cytogenetic Variation of B-Lymphoblastic Leukemia With Intrachromosomal Amplification of Chromosome 21 (iAMP21): A Multi-Institutional Series Review. Am J Pathol 2015; 144 (1): 103-12.

22. Moorman A.V., Robinson H., Schwab C., Richards S.M., Hancock J., Mitchell C.D., et al. Risk-directed treatment intensification significantly reduces the risk of relapse among children and adolescents with acute lymphoblastic leukemia and intrachromosomal amplification of chromosome 21: a comparison of the MRC ALL97/99 and U.KALL2003 trials.Clin Oncol 2013; 31 (27): 3389-96.

23. Attarbaschi A., Mann G., Panzer-Grümayer R., Röttgers S., Steiner M., König M.,et al. Minimal residual disease values discriminate between low and high relapse risk in children with B-cell precursor acute lymphoblastic leukemia and an intrachromosomal amplification of chromosome 21: the Austrian and German acute lymphoblastic leukemia Berlin-Frankfurt-Munster (ALL-BFM) trials. J Clin Oncol 2008; 26 (18): 3046-50.