A Case of t(3;3)(q21;q26.2) Associated with Severe Multilineage Dysplasia and Multi-drug Resistance in Blastic Crisis of Chronic Myelogenous Leukemia
0
조회
0
다운로드
1
인용
0
참고문헌
키워드
초록
The t(3;3)(q21;q26.2) is known to be mainly observed in hematologic myeloid malignancies, as a form of 3q21q26 syndrome. Cytogenetic abnormalities of 3q21q26 syndrome result in RPN1-EVI1 fusion transcripts involving ecotropic viral integration site-1 (EVI1) at 3q26.2 and ribophorin I (RPN1) at 3q21, and the fusion transcripts play an important role in leukemogenesis and disease progression. They are usually associated with dysplasia, especially of megakaryocytes. Patients with these cytogenetic abnormalities show extremely poor prognosis even with aggressive anti-leukemic therapy. We report a case of blastic crisis of CML with both t(3;3)(q21;q26.2) and t(9;22)(q34;q11.2) and associated severe multilineage dysplasia. The patient showed a poor response to imatinib, dasatinib and aggressive induction therapy. When both t(3;3)(q21;q26.2) and t(9;22)(q34;q11.2) are observed in cases of leukemia with increased blasts, they are best considered as aggressive phases of CML with t(3;3)(q21;q26.2), rather than AML with t(9;22)(q34;q11.2) by 2008 WHO classification. (Korean J Lab Med 2010;30:595-9)
Abstract
The t(3;3)(q21;q26.2) is known to be mainly observed in hematologic myeloid malignancies, as a form of 3q21q26 syndrome. Cytogenetic abnormalities of 3q21q26 syndrome result in RPN1-EVI1 fusion transcripts involving ecotropic viral integration site-1 (EVI1) at 3q26.2 and ribophorin I (RPN1) at 3q21, and the fusion transcripts play an important role in leukemogenesis and disease progression. They are usually associated with dysplasia, especially of megakaryocytes. Patients with these cytogenetic abnormalities show extremely poor prognosis even with aggressive anti-leukemic therapy. We report a case of blastic crisis of CML with both t(3;3)(q21;q26.2) and t(9;22)(q34;q11.2) and associated severe multilineage dysplasia. The patient showed a poor response to imatinib, dasatinib and aggressive induction therapy. When both t(3;3)(q21;q26.2) and t(9;22)(q34;q11.2) are observed in cases of leukemia with increased blasts, they are best considered as aggressive phases of CML with t(3;3)(q21;q26.2), rather than AML with t(9;22)(q34;q11.2) by 2008 WHO classification. (Korean J Lab Med 2010;30:595-9)
참고문헌 (19)
- Wieser R, "Rearrangements of chromosome band 3q21 in myeloid leukemia", Leuk Lymphoma, 43, pp.59~65 (2002)
- Testoni N, "3q21 and 3q26 cytogenetic abnormalities in acute myeloblastic leukemia: biological and clinical features", Haematologica, 84, pp.690~694 (1999)
- Swerdlow SH, "WHO classification of tumors of haematopoietic and lymphoid tissues. 4th ed", pp.116~117 (2008), International Agency for Research on Cancer
- "Mitelman database of chromosome aberrations and gene fusions in cancer"[URL]
- Secker-Walker LM, "Abnormalities of 3q21 and 3q26 in myeloid malignancy: a United Kingdom Cancer Cytogenetic Group study", Br J Haematol, 91, pp.490~501 (1995)
- Reiter E, "Low curative potential of bone marrow transplantation for highly aggressive acute myelogenous leukemia with inversion inv (3)(q21-q26) or homologous translocation t(3;3) (q21;q26)", Ann Hematol, 79, pp.374~377 (2000)
- Weisser M, "Advanced age and high initial WBC influence the outcome of inv(3) (q21q26)", t(3;3) (q21;q26) positive AML, 2007, pp.48, 2145~2151
- 정희정1, "3q21q26 증후군의 혈액학적, 임상적 소견: 불량한 예후 및 중추성 요붕증과의 연관성", The Korean Journal of Laboratory Medicine, 27(2), pp.133~138 (2007), 대한진단검사의학회
- Morishita K, "The EVI1 zinc finger myeloid transforming gene is normally expressed in the kidney and in developing oocytes", Oncogene, 5, pp.1419~1423 (1990)
- Nucifora G, "Consistent intergenic splicing and production of multiple transcripts between AML1 at 21q22 and unrelated genes at 3q26 in (3;21)(q26;q22) translocations", Proc Natl Acad Sci U S A, 91, pp.4004~4008 (1994)
- Nucifora G, "EVI1 and hematopoietic disorders: history and perspectives", Gene, 368, pp.1~11 (2006)
- Lahortiga I, "Molecular heterogeneity in AML", MDS patients with 3q21q26 rearrangements, 2004, pp.40, 179~189
- Barjesteh van Waalwijk van Doorn-Khosrovani S, "High EVI1 expression predicts poor survival in acute myeloid leukemia: a study of 319 de novo AML patients", Blood, 101, pp.837~845 (2003)
- Valk PJ, "Barjesteh van Waalwijk van Doorn-Khosrovani S, Boer JM, et al. Prognostically useful gene-expression profiles in acute myeloid leukemia", N Engl J Med, 350, pp.1617~1628 (2004)
- Ogawa S, "Increased EVI-1 expression is frequently observed in blastic crisis of chronic myelocytic leukemia", Leukemia, 10, pp.788~794 (1996)
- Johansson B, "Cytogenetic and molecular genetic evolution of chronic myeloid leukemia", Acta Haematol, 107, pp.76~94 (2002)
- Raza A, "Arsenic trioxide and thalidomide combination produces multi-lineage hematological responses in myelodysplastic syndromes patients, particularly in those with high pre-therapy EVI1 expression", Leuk Res, 28, pp.791~803 (2004)
- Maserati E, "Transferrin and structural anomalies of chromosome 3 in the blastic phase of chronic myelocytic leukemia", Hereditas, 111, pp.305~308 (1989)
- Park TS, "Concomitant t(3;3)(q21;q26), trisomy 19, and E255V mutation associated with imatinib mesylate resistance in chronic myelogenous leukemia", Cancer Genet Cytogenet, 190, pp.46~48 (2009)