근네배수체증 염색체 이상을 보이는 골수형성이상증후군 1예
Chromosomal Abnormalities in Myelodysplastic Syndrome with Near-tetraploidy: A Case Report
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과배수체증 및 네배수체증은 골수성 종양에서 드문 세포유전학적 이상으로 골수형성이상증후군에서 보고된 바는 더욱 드물다. 이러한 이상은 백혈병 유발, 백혈병성 전환 및 나쁜 예후와 연관이있다고 알려져 있다. 이 논문에서는 국내에서 아직 보고된 바가 없는 증례인 골수형성이상증후군을 동반한 근네배수체증을 보고하고자 한다. 80세 환자가 골수 검사상 골수 내 골수모세포가 16%관찰되어 모세포과다불응성빈혈-2로 진단되었다. 골수천자액으로 시행한 염색체 검사에서는 염색체의 수적 그리고 구조적 이상과 함께 근네배수체증이 발견되었으며 결과는 45,XY,add(1)(p36.1),del(10)(p11.2),del(11)(q13),−12,−16,der(17)t(11;17)(q13;q21),add(20)(q13.1),+mar[8]/85~90,idemⅹ2[cp8]/46,XY[4]이었다. 관해유도 항암화학요법(decitabine, 20 mg/m2/day)을 시행하고혈구 증식촉진인자를 투여 및 수혈하며 외래에서 추적관찰하고있던 중 진단으로부터 약 1년 2개월 후인 2011년 4월에 호중구 감소증으로 인한 패혈증으로 사망하였다
Abstract
Massive hyperdiploidy and tetraploidy are rare cytogenetic abnormalities in myelocytic malignancies, especially in myelodysplastic syndrome (MDS). These abnormalities are known to be associated with leukemogenesis, leukemic transformation and poor prognosis. We report here the first case of MDS with near-tetraploid cytogenetic abnormality in Korea. A 80-yr-old male was diagnosed with refractory anemia with excess blasts-2 (RAEB-2). Bone marrow aspiration smear showed 16% of blasts, which were large sized myeloid blasts with irregular margins and cytoplasmic vacuolation. Cytogenetic analysis of bone marrow cells revealed numercal and structural cytogenetic abnormalities including near-tetraploidy in 8 of 20metaphases: 45,XY,add(1)(p36.1),del(10)(p11.2),del(11)(q13),−12,−16,der(17)t(11;17) (q13;q21),add(20)(q13.1),+mar[ 8]/85~90,idem×2[ cp8]/46,XY[4]. After chemotherapy with decitabine, he showed pancytopenia during follow-up period and died of sepsis 14 months after the diagnosis.
참고문헌 (13)
- neoplasms, overview, In WHO classification tumours of haematopoietic and lymphoid tissues. 4th ed, "Myelodysplastic syndromes", pp.2008, Brunning RD
- Nolte F, "Myelodysplastic syndromes: molecular pathogenesis and genomic changes", Ann Hematol, 87, pp.777~795 (2008)
- Le Beau MM, "Clinical and cytogenetic correlations in 63 patients with therapy- related myelodysplastic syndromes and acute nonlymphocytic leukemia: further evidence for characteristic abnormalities of chromosomes no. 5 and 7", J Clin Oncol, 4, pp.325~345 (1986)
- Stamatoullas A, "Unusual complex hyperdiploid karyotypes in myelodysplastic syndromes", Cancer Genet Cytogenet, 170, pp.129~132 (2006)
- Znoyko I, "Tetraploidy and 5q deletion in myelodysplastic syndrome: a case report", Cancer Genet Cytogenet, 183, pp.64~68 (2008)
- Iyer RV, "Massive hyperdiploidy and tetraploidy in acute myelocytic leukemia and myelodysplastic syndrome", Cancer Genet Cytogenet, 148, pp.29~34 (2004)
- Tanaka M, "Myelodysplastic syndrome associated with hypotriploidy", Acta Haematol, 95, pp.148~150 (1996)
- Watanabe A, "Near-triploidy and near-tetraploidy in hematological malignancies and mutation of the p53 gene", Clin Lab Haematol, 26, pp.25~30 (2004)
- Manley R, "Polyploidy in myelodysplastic syndrome: a case report", Cancer Genet Cytogenet, 106, pp.170~172 (1998)
- Lim G, "Leukemic transformation associated with massive hyperdiploidy in myelodysplastic syndrome (MDS) with der(1;7)(q10;p10): A novel case study", Leukemia Research, 34(8), pp.208~209 (2010), Elsevier BV
- Borgström GH, "Polyploidy of the bone marrow", Scand J Haematol, 17, pp.123~131 (1976)
- 임미정, "t(8;21) 잠재 염색체 변화로 인해 RUNX1-RUNX1T1 재배열을 보인 근네배수체증 급성골수백혈병 1예", Annals of Laboratory Medicine, 29(6), pp.510~514 (2009), 대한진단검사의학회
- 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)