3방향전위 t(3;21;8)(p21;q22;q22)와 2방향전위 t(2;11)(q31;p15)의 2가지 염색체 이상이 동시에 관찰된 급성골수성백혈병 1예
Two Concurrent Chromosomal Aberrations Involving Three-way t(3;21;8)(p21;q22;q22) and Two-way t(2;11)(q31;p15) Translocations in a Case of de novo Acute Myeloid Leukemia
1
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
t(8;21)(q22;q22)는 급성골수성백혈병과 관련된 가장 흔한 염색체 이상 중 하나이지만, t(3;21)(p21;q22)는 상대적으로 흔치 않다. t(2;11)(q31;p15)는 골수성백혈병에서 드문 전위이다. 저자는 급성급성골수성백혈병 환자에서 3방향전위 t(3;21;8)(p21;q22;q22)와 2방향전위 t(2;11)(q31;p15)를 발견하였기에 보고하는 바이다. 다중역전사중합효소연쇄반응을 시행한 결과, RUNX1-RUNX1T1 융합유전자가 검출되었다. 환자는 2번째 재발 후 관해요법에 실패하였으며, 진단 55개월 후 사망하였다. 저자가 아는 한, 급성골수성백혈병 환자에서 3방향전위 t(3;21;8)과 2방향전위 t(2;11)이 관찰된 것은 이번이 첫 증례이다.
Abstract
One of the most frequent structural chromosomal anomaly is t(8;21)(q22;q22) that occurs in approximately 5-15% of all acute myeloid leukemia (AML). However, t(3;21)(p21;q22) and t(2;11)(q31;p15) translocations are rarely reported in AML. Here, we report a unique case of AML with two translocations, t(3;21;8)(p21;q22;q22) and t(2;11)(q31;p15). Using multiplex reverse transcription polymerase chain reaction, we identified a RUNX1-RUNX1T1 fusion gene. Following a second relapse, the patient did not respond to therapy and died 55 months following the first diagnosis. We believe that this is the first case describing concurrent chromosomal aberrations involving three-way t(3;21;8) and two-way t(2;11) translocations in de novo acute myeloid leukemia.
참고문헌 (19)
- Xiao Z, "Molecular characterization of genomic AML1-ETO fusions in childhood leukemia", Leukemia, 15, pp.1906~1913 (2001)
- 김현정, "Masked t(8;21)을 보이는 급성골수성백혈병 1예", Annals of Laboratory Medicine, 26(5), pp.338~342 (2006), 대한진단검사의학회
- Peterson LF, "Acute myeloid leukemia with the 8q22;21q22 translocation: secondary mutational events and alternative t(8;21) transcripts", Blood, 110, pp.799~805 (2007)
- Vundinti BR, "Three way translocation in a new variant of t(8;21) acute myeloid leukemia involving Xp22", Indian J Cancer, 45, pp.30~32 (2008)
- Chen Z, "Molecular cytogenetic aspects of hematological malignancies: clinical implications", Am J Med Genet, 115, pp.130~141 (2002)
- Taketani T, "The HO-XD11 gene is fused to the NUP98 gene in acute myeloid leukemia with t(2;11)(q31;p15)", Cancer Res, 62, pp.33~37 (2002)
- Huang L, "Acute myeloid leukemia associated with variant t(8;21) detected by conventional cytogenetic and molecular studies: a report of four cases and review of the literature", Am J Clin Pathol, 125, pp.267~272 (2006)
- Elia L, "A multiplex reverse transcriptase-polymerase chain reaction strategy for the diagnostic molecular screening of chimeric genes: a clinical evaluation on 170 patients with acute lymphoblastic leukemia", Haematologica, 88, pp.275~279 (2003)
- Hsiao HH, "Variant translocation t(2;21;8)(q36;q22;q22) with RUNX1", CBFA2T1 (AML1, Cancer Genet Cytogenet, pp.2005, 159[DOI]
- Ishida F, "t(8;21;14)(q22;q22;q24) is a novel variant of t(8;21) with chimeric transcripts of AML1-ETO in acute myelogenous leukemia", Cancer Genet Cytogenet, 132, pp.133~135 (2002)
- Ishii Y, "Cryptic chromosomal anomaly in a patient with acute myeloid leukemia leading to AML1", ETO fusion with unfavorable prognostic factors, 2005, pp.160, 94~95
- Nishii K, "Characteristics of t(8;21) acute myeloid leukemia (AML) with additional chromosomal abnormality: concomitant trisomy 4 may constitute a distinctive subtype of t(8;21) AML", Leukemia, 17, pp.731~737 (2003)
- Grigg AP, "Clinical, haematological and cytogenetic features in 24 patients with structural rearrangements of the Q arm of chromosome 3", Br J Haematol, 83, pp.158~165 (1993)
- Giles FJ, "Translocation (3;21;8)(q21;q22;q22) in a patient with acute myeloid leukemia. A case report and review of prognostic indicators", Cancer Genet Cytogenet, 104, pp.66~69 (1998)
- Tien HF, "Cytogenetic studies, ras mutation, and clinical characteristics in primary myelodysplastic syndrome. A study on 68 Chinese patients in Taiwan", Cancer Genet Cytogenet, 74, pp.40~49 (1994)
- Raza-Egilmez SZ, "NUP98-HOXD13 gene fusion in therapy-related acute myelogenous leukemia", Cancer Res, 58, pp.4269~4273 (1998)
- Shimada H, "Generation of the NUP98-HOXD13 fusion transcript by a rare translocation, t(2;11)(q31;p15), in a case of infant leukaemia", Br J Haematol, 110, pp.210~213 (2000)
- Arai Y, "Heterogenous fusion transcripts involving the NUP98 gene and HOXD13 gene activation in a case of acute myeloid leukemia with the t(2;11)(q31;p15)translocation", Leukemia, 14, pp.1621~1629 (2000)
- Slape C, "NUP98-HOX translocations lead to myelodysplastic syndrome in mice and men", J Natl Cancer Inst Monogr, 39, pp.64~68 (2008)