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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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.
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