Acute lymphoblastic leukemias with translocations (1;19)(q23;p13): a description of 3 new cases and a review of the literature


Cite item

Full Text

Abstract

Aim. To discuss the specific features of the cytogenetics and clinical manifestations of acute lymphoblastic leukemias (ALL) with balanced and unbalanced translocations (1;19)(q23; p13).
Materials and methods. Bone marrow cells with differential staining of chromosomes into G-segments underwent cytogenetic study that was added by fluorescence in situ hybridization in 2 cases. The karyotypes of 3 patients with ALL previously untreated at 5, 18, and 23 years of age were studied.
Results. Balanced translocations (1;19)(q23; p13) were found in 2 of the examinees while unbalanced translocation was noted in 1 case. Modal chromosomal classes were 46, 47, and 55-65 if the cells had additional structural (+1q, 6q-, etc.) and numerical chromosomal abnormalities (nonrandom trisomies and tetrasomies of chromosomes of different pairs).
Conclusion. Translocation (1;19)(q23; p13) is characteristic for patients of different age groups, mainly for those with pre-B cell ALL. It is commonly concurrent with other karyotypic changes, namely, 6q deletion, 1q trisomy, and high hyperdiploidy.

About the authors

Tat'yana Leonidovna Gindina

Email: tatgindina@rambler.ru

Nikolay Nikolaevich Mamaev

Email: nikmamaev@rambler.ru

Svetlana Rafikovna Zubaydullina

Email: svetuk_s@mail.ru

Elena Viktorovna Kondakova

Email: kondakovae@mail.ru

T L Gindina

R. M. Gorbacheva Institute of Pediatric Hematology and Transplantology, Acad. I. P. Pavlov Saint Petersburg State Medical University

R. M. Gorbacheva Institute of Pediatric Hematology and Transplantology, Acad. I. P. Pavlov Saint Petersburg State Medical University

N N Mamayev

R. M. Gorbacheva Institute of Pediatric Hematology and Transplantology, Acad. I. P. Pavlov Saint Petersburg State Medical University

R. M. Gorbacheva Institute of Pediatric Hematology and Transplantology, Acad. I. P. Pavlov Saint Petersburg State Medical University

S R Zubaidullina

Medical Genetic Counseling Center, District Cardiology Dispensary

Medical Genetic Counseling Center, District Cardiology Dispensary

E V Kondakova

Surgut District Clinical Hospital

Surgut District Clinical Hospital

References

  1. Carroll A. J., Crist W. M., Parmley R. T. et al. Pre-B cell leukemia associated with chromosome translocation 1;19. Blood 1984; 63(3): 721-724.
  2. Michael P. M., Levin M. D., Garson O. M. Translocation 1;19 - a new cytogenetic abnormality in acute lymphocytic leukemia. Cancer Genet. Cytogenet. 1984; 12(4): 333-341.
  3. Williams D. L., Look A. T., Melvin S. L. et al. New chromosomal translocations correlate with specific immunophenotypes of childhood acute lymphoblastic leukemia. Cell 1984; 36(1): 101-109.
  4. Crist W. M., Carroll A. J., Shuster J. J. et al. Poor prognosis of children with pre-B acute lymphoblastic leukemia is associated with the t(1; l9)(q23;p13): A Pediatric Oncology Group Study. Blood 1990; 76(1): 117-122.
  5. Raimondi S. C., Behm F. G., Roberson P. K. et al. Cytogenetics of pre-B-cell acute lymphoblastic leukemia with emphasis on prognostic implications of the t(1;19). J. Clin. Oncol. 1990; 8(8); 1380-1388.
  6. Pui C. H., Raimondi S. C., Hancock M. L. et al. Immunologic, cytogenetic, and clinical characterization of childhood acute lymphoblastic leukemia with the t(1;19)(q23; p13) or its derivative. J. Clin. Oncol. 1994; 12(12): 2601-2606.
  7. Hunger S. P. Chromosomal translocation involving the E2A gene in acute lymphoblastic leukemia: Clinical features and molecular pathogenesis. Blood 1996; 87(4): 1211-1214.
  8. Martinez-Climent J. A. Molecular cytogenetics of childhood hematological malignancies [review]. Leukemia 1997; 11(12): 1999-2021.
  9. Ольшанская Ю. В., Домрачева Е. В. Хромосомные перестройки при острых лейкозах: Справочное пособие. М.: МЕД-пресс-информ.; 2006.
  10. Hunger S. P., Sun T., Boswell A. F. et al. Hyperdiploidy and E2A-PBX1 fusion in an adult with t(1;19)+ acute lymphoblastic leukemia: case report and review of the literature. Genes. Chromosom. Cancer 1997; 20(4): 392-398.
  11. Sharma P., Watson N., Sartor M. et al. Fifteen cases of t(1;19)(q23,p13.3) identified in an Australian series of 122 children and 80 adults with acute lymphoblastic leukemia. Cancer Genet. Cytogenet. 2001; 124(2): 132-136.
  12. Wiemels J. L., Leonard B. C., Wang Y. et al. Site-specific translocation and evidence of postnatal origin of the t(1;19) E2A-PBXl fusion in childhood acute lymphoblastic leukemia. Proc. Natl. Acad. Sci. USA 2002; 99(23): 15101-15106.
  13. Barber K. E., Harrison C. J., Broadfield Z. J. et al. Molecular cytogenetic characterization of TCF3 (E2A)/19p13.3 rearrangements in B-cell precursor acute lymphoblastic leukemia. Genes Chromosom. Cancer 2007; 46(5): 478-486.
  14. Maloney K. W., McGavran L., Odom L. F. et al. Different patterns of homozygous p16INK4A and p15INK4B deletions in childhood acute lymphoblastic leukemias containing distinct E2A translocations. Leukemia 1998; 12(9): 1417-1421.
  15. Paulsson K., Jonson T., Ora I. et al. Characterisation of genomic translocation breakpoints and identification of an alternative TCF3/PBX1 fusion transcript in t(1;19)(q23; p13)-positive acute lymphoblastic leukaemias. Br. J. Haematol. 2007; 138(2): 196-201.
  16. Troussard X., Rimokh R., Valensi F. et al. Heterogeneity of t(1;19)(q23;p13) acute leukaemias. French Haematological Cytology Croup. Br. J. Haematol. 1995; 89(3): 516-526.
  17. Mancini M., Vegna M. L., Castoldi G. L. et al. Partial deletions of long arm of chromosome 6: biologic and clinical implications in adult acute lymphoblastic leukemia. Leukemia 2002; 16(10): 2055-2061.
  18. Griffin T. C., Tomlinson G. E., Raimondi S. C. et al. Childhood acute lymphoblastic leukemia with both t(1;19) and t(9;22). Leukemia 1992; 6(6): 535-540.
  19. Uckun F. M., Sensel M. G., Sather H. N. et al. Clinical significance of translocation t(1;19) in childhood acute lymphoblastic leukemia in the context of contemporary therapies: a report from the Children's Cancer Group. J. Clin. Oncol. 1998; 16(2): 527-535.
  20. Piccaluga P. P., Malagola M., Rondoni M. et al. Poor outcome of adult acute lymphoblastic leukemia patients carrying the t(1;19)(q23;p13) translocation. Leuk. Lymphoma 2006; 47(3): 469-472.
  21. Vey N., Thomas X., Picard C. et al. Allogeneic stem cell transplantation improves the outcome of adults with t(1;19)/E2A-PBX1 and t(4;11)/MLL-AF4 positive B-cell acute lymphoblastic leukemia: results of the prospective multicenter LALA-94 study. Leukemia 2006; 20(12): 2155-2161.
  22. Cytogenetic abnormalities in adults acute lymphoblastic leukemia: correlation with hematologic findings and outcome. A collaborative study of the Group Francias de Cytogenetique hematologique. Blood 1996; 87(8): 3135-3142.
  23. Faderl S., Kantarjian H. M., Talpaz M. et al. Clinical significance of cytogenetic abnormalities in acute lymphoblastic leukemia. Blood 1998; 91(11): 3995-4019.
  24. Paulsson K., Horvat A., Fioretos T. et al. Formation of der(19)t(1;19)(q23;p13) in acute lymphoblastic leukemia. Genes Chromosom. Cancer 2005; 42(2); 144-148.
  25. Гиндина Т. Л., Мамаев Н. Н., Кондакова Е. В. и др. Острые лимфобластные лейкозы с высокогипердиплоидными кариотипами. Вестн. гематол. 2007; 3(4): 18-23.
  26. Schaffer L. G., Tommerup N. (eds.) ISCN: An International System Human Cytogeneic Nomenclature (2005). 2005.
  27. Merup M., Moreno T. C., Heyman M. et al. 6q deletions in acute lymphoblastic leukemia and non-Hodgkin's lymphomas. Blood 1998; 91(9): 3397-3400.
  28. Sinclair P. B., Sorour A., Martineau M. et al. A fluorescence in situ hybridization map of 6q deletions in acute lymphocytic leukemia: identification and analysis of a candidate tumor suppressor gene. Cancer Res. 2004; 64(12): 4089-4098.
  29. Berendes P., Hoogeveen A., van Dijk M. et al. Specific immunologic recognition of the tumor-specific EA2-PBX1 fusion protein antigen in t(1;19)-positive pre-B cells. Leukemia 1995; 9(8): 1367-1393.
  30. Betts D. R., Stanchescu R., Niggli F. K. et al. SKY reveals a high frequency of unbalanced translocations involving chromosome 6 in t(12;21)-positive acute lymphoblastic leukemia. Leukemia Res. 2008; 32(1): 39-43 [comment].
  31. Jackson A., Carrara P., Duke V. et al. Deletion of 6q16-q21 in human lymphoid malignancies: a mapping and deletion analysis. Cancer Res. 2000; 60(11): 2775-2779.

Supplementary files

Supplementary Files
Action
1. JATS XML

Copyright (c) 2010 Consilium Medicum

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
 

Address of the Editorial Office:

  • Alabyan Street, 13/1, Moscow, 127055, Russian Federation

Correspondence address:

  • Alabyan Street, 13/1, Moscow, 127055, Russian Federation

Managing Editor:

  • Tel.: +7 (926) 905-41-26
  • E-mail: e.gorbacheva@ter-arkhiv.ru

 

© 2018-2021 "Consilium Medicum" Publishing house


This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies