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진성혈소판증가증 환자에 동반된 드문 der(Y)t(Y;1)(q12;q12) 1예

A Rare der(Y)t(Y;1)(q12;q12) in a Patient with Essential Thrombocythemia

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참고문헌

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초록

혈액 질환에서 다양한 상염색체 이상을 동반하는 경우는 잘 알려져 있지만, 성염색체 이상을 동반하는 경우는 드물다. 1번 염색체 장완의 중복은 골수형성이상증후군, 골수증식종양 외에도 급성골수성백혈병, 급성림프모구백혈병 및 버킷림프종 등의 여러 혈액 질환에서도 보고되어왔다. 하지만 1번 염색체 장완의 중복이 der(Y)t(Y;1)(q12;q12)로 나타나는 경우는 매우 드물다. 이에 저자들은 der(Y)t(Y;1)(q12;q12)를 가진 진성혈소판증가증 1예를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

Abstract

Among hematologic diseases, structural abnormalities of autosomal chromosomes are well-known, but cases involving the sex chromosomes are uncommon. Duplications of the long arm of chromosome 1 have been reported in several hematologic diseases including myelodysplastic syndrome, myeloproliferative neoplasms, acute myeloid leukemia, acute lymphoblastic leukemia, and Burkitt lymphoma. However, dup(1q) as a der(Y)t(Y;1)(q12;q12) is very rare. Here, we report a case of essential thrombocythemia harboring der(Y)t(Y;1)(q12;q12) with literature review.

참고문헌 (20)

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관련 논문AI추천

한국인 본태성혈소판혈증 환자에서 JAK2V617F 유전자 변이박필환, 방수미, 서일혜, 신동복, 안정열, 유수진, 이재훈대한진단검사의학회 · Annals of Laboratory Medicine2007 · 제27권 제2호혈소판증가를 동반한 환상철적혈모세포불응빈혈 환자에서 나타난 der(19)t(1;19)김현수, 박지영, 신규성, 이영경, 이이랑, 정주영, 조현찬대한진단검사의학회 · Laboratory Medicine Online2013 · 제3권 제2호본태성 혈소판 증다증과 유사하게 발병한 만성 골수성 백혈병 3예 보고문희원, 박진희, 안정열, 윤정숙, 정화순, 허정원, 홍기숙대한진단검사의학회 · Annals of Laboratory Medicine2002 · 제22권 제3호골수 호염기구증가 및 형성이상거대핵세포증식과 i(17)(q10)을 단독 세포유전학적 이상으로 가지는 급성골수성백혈병 1예 보고와 문헌 고찰김인숙, 이선민, 이은엽, 이현지, 장철훈, 정주섭대한진단검사의학회 · Laboratory Medicine Online2012 · 제2권 제4호근네배수체증 염색체 이상을 보이는 골수형성이상증후군 1예김명한, 김장수, 김하늬, 양진혁, 윤수영, 이갑노, 이혜진, 임채승대한진단검사의학회 · Laboratory Medicine Online2012 · 제2권 제1호혈액 종양 환자에서 관찰되는 체질성 염색체 이상의 빈도와 종류정화순, 허정원대한진단검사의학회 · Annals of Laboratory Medicine2006 · 제26권 제1호

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