만성골수성백혈병의 이차적 핵형변화로서 ider(9)(q10)t(9;22)(q34;q11.2) 동반 1예

Abstract

Although occasional patients with chronic myeloid leukemia (CML) have chromosomal changes other than Philadelphia chromosome early in the disease, in typical cases the 9;22 translocation remains the sole abnormality throughout the disease course in chronic phase. When disease progression occurs, however, 75-80% develop additional chromosome aberrations. These secondary changes sometimes precede the more aggressive manifestations hematologically and clinically and thus may serve as valuable prognostic indicators. ider(9)(q10)t(9;22)(q34;q11.2) is very rare and a recurrent chromosomal abnormality associated with acute lymphoblastic leukemias (ALL) and lymphoblastic crisis of CML. And ider(9)(q10)t(9;22)(q34;q11.2) is a lymphoid-specific rearrangement and the patients with this abnormality are of older age on average. They commonly show pre-B cell lineage immunophenotype and L2 morphology. We report a case of ider(9) (q10)t(9;22)(q34;q11.2) as secondary aberration in a patient with lymphoblastic crisis of CML.

ider(9)(q10)t(9;22)는 매우 드문 핵형으로서 림프구계 특이 적인 핵형 변화이며 주로 노령층에서, 그리고 pre-B 세포성 면역 표현형 및 FAB 분류상 L2형태를 특징으로 나타내는 핵형이다. 아직 국내 보고된 바 없었으며, 저자들은 만성골수성백혈병에서 림프구성 모세포발증기로 이행된 환자의 골수 염색체 분석상 t(9;22)(q34;q11.2) 및 이차적인 핵형으로 ider(9)(q10)t(9;22) 를 경험하였다. 환자의 핵형은 46,XY,t(9;22)(q34;q11.2) [12]/46,XY,ider(9)(q10)t(9;22)(q34;q11.2), der(22)t(9;22) (q34;q11.2)[10]/45,XY,-9,der(22)t(9;22)(q34;q11.2)[3]로 분 석되었다.