Laboratory Medicine Online  2016;6(3):183-186

doi:10.3343/lmo.2016.6.3.183

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

Hyeon Ho LIM 1 ; Jae Lim CHOI ; Bo Ram KIM ; Kwang Sook WOO ; Kyeong Hee KIM ; Jeong Man KIM ; Sung Hyun KIM ; Jin Yeong HAN

Affiliations

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Keywords

Essential thrombocythemia; der(Y)t(Y; 1)(q12; q12); dup(1q); Chromosomal abnormality

Country

Republic of Korea

Language

Korean

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.