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재발 시 MN1-ETV6 유전자재배열을 동반한 급성골수성백혈병 첫 증례 보고

First Case Report of Acute Myeloid Leukemia with MN1-ETV6 Rearrangement at Relapse

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초록

MN1-ETV6 유전자재배열은 급성골수성백혈병, 골수형성이상증후군을 포함한 골수구계종양(myeloid neoplasm) 환자에서 매우 드물게 검출되며 일반적으로 진단 당시에 검출된다. 저자들은 급성골수성백혈병 진단 당시에는 정상 핵형이었으나, 항암치료 후 재발 시 MN1-ETV6 유전자재배열을 동반한 국내 첫 증례를 경험하였기에 이를 보고하고자 한다.

Abstract

MN1-ETV6 rearrangement is rarely detected in patients with myeloid neoplasms, such as acute myeloid leukemia, myelodysplastic syndrome, and myelodysplastic/myeloproliferative neoplasms. Usually, MN1-ETV6 rearrangement is found at diagnosis. Here, we report the first Korean AML patient with MN1-ETV6 gene rearrangement in a case of relapse exhibiting normal karyotype at early diagnosis.

참고문헌 (13)

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