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

Author: 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
Author Information

1. Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea. jyhan@dau.ac.kr
Publication Type:Case Report
Keywords: Essential thrombocythemia; der(Y)t(Y; 1)(q12; q12); dup(1q); Chromosomal abnormality
MeSH: Arm; Burkitt Lymphoma; Chromosome Aberrations; Chromosomes, Human, Pair 1; Hematologic Diseases; Humans; Leukemia, Myeloid, Acute; Myelodysplastic Syndromes; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Sex Chromosomes; Thrombocythemia, Essential*
From:Laboratory Medicine Online 2016;6(3):183-186
CountryRepublic 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.