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역전사중합효소연쇄반응과 염기순서분석에서 PML/RARA 재배열이 검출되나 핵형분석과 형광동소교잡법에서 t(15;17) 결여된 미세과립형 급성전골수구성백혈병 1예 보고

Detection of PML/RARA Rearrangement by Reverse Transcriptase-PCR and Sequencing in a Case of Microgranular Acute Promyelocytic Leukemia Lacking t(15;17) on Karyotype and FISH

김성현|한진영|우광숙|김경은
대한진단검사의학회 (Korean Society For Laboratory Medicine)|2009.10|Annals of Laboratory Medicine|제29권 제5호|pp. 379-383

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참고문헌

키워드

RT-PCRTrisomy 8Acute promyelocytic leukemiaCryptic PML/RARA rearrangementPML/RARA
주제분류병리학

초록

형태학적으로 미세과립형의 급성전골수구성백혈병이며 역전 사중합효소연쇄반응 및 cDNA 염기순서분석 검사에서는 PML/ RARA 융합 유전자가 증명되었으나, 핵형 및 형광동소교잡법에 서는 PML/RARA 융합이 없는 증례를 경험하였기에 보고하고 자 한다. 핵형은 47,XX,+8[19]/46,XX[1]이었다. 비록 새로워진 FISH 소식자를 이용하여 더욱 정확하게 t(15;17)을 검출할 수 있 으나, 잠재성 PML/RARA 융합을 동정하기 위해서는 다른 분자 유전학적 검사 또한 동시에 시행할 필요가 있다고 생각된다.

Abstract

We report a case of morphologically microgranular acute promyelocytic leukemia with PML/RARA fusion transcripts demonstrated by reverse transcriptase-PCR and cDNA sequencing, and no PML/ RARA fusion detected by karyotype and FISH analyses. Karyotype was 47,XX,+8[19]/46,XX[1]. Although the newer FISH probes provide more accurate detections of t(15;17), it would be necessary to perform other molecular tests to further identify the masked PML/RARA fusions.

참고문헌 (16)

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