t(8;21) 잠재 염색체 변화로 인해 RUNX1-RUNX1T1 재배열을 보인 근네배수체증 급성골수백혈병 1예
Near-tetraploidy Acute Myeloid Leukemia with RUNX1-RUNX1T1 Rearrangement Due to Cryptic t(8;21)
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초록
네배수체증 및 근네배수체증은 AML에서 드물게 나타나는 염색체 이상으로 일차성과 이차성으로 구별되며 이차성 네배수 체증 또는 근네배수체증 AML은 특히 t(8;21)과 연관이 있는 것 으로 알려져 있다. 본 증례에서는 FISH 검사결과에서 RUNX1- RUNX1T1 유전자 재배열이 보여 염색체 검사에서 발견되지 않 은 t(8;21)의 존재를 시사하였다. 본 증례는 네배수체증 또는 근네배수체증에 동반된 잠재(cryptic) RUNX1-RUNX1T1이 발견된 국내 첫 보고이며, t(8;21) 을 동반한 네배수체증 또는 근네배수체증 AML의 예후는 불량 한 것으로 알려져 있으나 이 환자는 다른 예들에 비해서 상대적 으로 좋은 예후를 보이고 있다.
Abstract
Tetraploidy or near-tetraploidy is a rare cytogenetic abnormality found in AML, and is divided into primary and secondary forms. The secondary tetraploidy or near-tetraploidy found in AML is known to be specifically associated with t(8;21). In this case report, FISH analysis detected RUNX1-RUNX1T1 gene rearrangement in the absence of cytogenetic abnormality of t(8;21), which suggests the presence of unvailed t(8;21). This is the first case report of tetraploidy or near-tetraploidy AML with cryptic RUNX1/RUNX1T1 in Korea. Although the prognosis of tetraploidy or near- tetraploidy with t(8;21) is known to be poor, this patient shows a relatively good clinical course compared to other reported cases.
참고문헌 (16)
- Secker-Walker LM, "Cytogenetics adds independent prognostic information in adults with acute lymphoblastic leukaemia on MRC trial UKALL XA. MRC adult leukaemia working party", Br J Haematol, 96, pp.601~610 (1997)
- Pui CH, "Near-triploid and near-tetraploid acute lymphoblastic leukemia of childhood", Blood, 76, pp.590~596 (1990)
- "Mitelman database of chromosome aberrations in cancer"[URL]
- Iyer RV, "Massive hyperdiploidy and tetraploidy in acute myelocytic leukemia and myelodysplastic syndrome", Cancer Genet Cytogenet, 148, pp.29~34 (2004)
- Xiao Z, "Tetraploidy or near-tetraploidy clones with double 8;21 translocation: a non-random additional anomaly of acute myeloid leukemia with t(8;21)(q22;q22)", Haematologica, 90, pp.413~414 (2005)
- Testa JR, "Near-tetraploid clones in acute leukemia", Blood, 61, pp.71~78 (1983)
- Abe R, "Chromosomes and causation of human cancer and leukemia. LIV. Near-tetraploidy in acute leukemia", Cancer Genet Cytogenet, 14, pp.45~59 (1985)
- Xue Y, "Tetraploid or near-tetraploid clones characterized by two 8;21 translocations and other chromosomal abnormalities in two patients with acute myeloblastic leukemia", Cancer Genet Cytogenet, 92, pp.18~23 (1996)
- Xue Y, "Secondary near-pentaploidy and", or near-tetraploidy characterized by the duplication of 8;21 translocation in the M2 subtype of acute myeloid leukemia, 2000, pp.71, 359~365
- Lemez P, "Three cases of near-tetraploid acute myeloid leukemias originating in pluripotent myeloid progenitors", Leuk Res, 22, pp.581~588 (1998)
- Yamamoto K, "CD7+ near-tetraploid acute myeloblastic leukemia M2 with double t(8;21) (q22;q22) translocations and Aml1", ETO rearrangements detected by fluorescence in situ hybridization analysis, 2001, pp.74, 316~321
- Udayakumar AM, "Complex t(8;13;21)(q22;q14;q22)--a novel variant of t(8;21) in a patient with acute myeloid leukemia (AML-M2)", Arch Med Res, 39, pp.252~256 (2008)
- Sarriera JE, "Comparison of outcome in acute myelogenous leukemia patients with translocation (8;21) found by standard cytogenetic analysis and patients with AML1", ETO fusion transcript found only by PCR testing, 2001, pp.15, 57~61
- 김현정, "Masked t(8;21)을 보이는 급성골수성백혈병 1예", The Korean Journal of Laboratory Medicine, 26(5), pp.338~342 (2006), 대한진단검사의학회
- Swerdlow SH, "WHO classification of tumours of haematopoietic and lymphoid tissues. 4th ed", pp.110~123 (2008), IARC Press
- "Atlas of genetics and cytogenetics in oncology and haematology"[URL]