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

Hyeon Ho Lim; Jae Lim Choi; Bo Ram Kim; Kwang Sook Woo; Kyeong Hee Kim; Jeong Man Kim; Sung Hyun Kim; Jin Yeong Han

doi:10.3343/lmo.2016.6.3.183

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Lim, Choi, Kim, Woo, Kim, Kim, Kim, and Han: A Rare der(Y)t(Y;1)(q12;q12) in a Patient with Essential Thrombocythemia

Case Report

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

Published online: 1 July 2016

DOI: https://doi.org/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, M.D.¹, Jae Lim Choi, M.D.², Bo Ram Kim, M.D.¹, Kwang Sook Woo, M.D.¹, Kyeong Hee Kim, M.D.¹, Jeong Man Kim, M.D.¹, Sung Hyun Kim, M.D.³, Jin Yeong Han, M.D.¹

¹Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea.

²Department of Laboratory Medicine, Seegene Medical Foundation, Busan, Korea.

³Department of Internal Medicine, Dong-A University College of Medicine, Busan, Korea.

Corresponding author: Jin Yeong Han. Department of Laboratory Medicine, Dong-A University College of Medicine, 26 Daesingongwon-ro, Seo-gu, Busan 49201, Korea. Tel: +82-51-240-5323, Fax: +82-51-255-9366, jyhan@dau.ac.kr

Received 1 October 2015 Revised 9 January 2016 Accepted 12 January 2016

(open-access):

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

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

Figures and Tables

Fig. 1

(A) Bone marrow aspirate smear showing a megakaryocyte with profound platelet clumps (Wright-Giemsa stain, ×1,000) and (B) bone marrow biopsy showing abnormally clustered megakaryocytes (hematoxylin and eosin, ×200).

Fig. 2

Karyotype showing a 46,X,der(Y)t(Y;1)(q12;q12).

Fig. 3

FISH with the 1q-specific probe showed that CDKN2C was translocated to the long arm of chromosome Y. (A) Metaphase. (B) Interphase.

Table 1

Clinical and cytogenetic data of patients with der(Y)t(Y;1)(q12;q12) previously described in literature

Case No.	Diagnosis	Age	Karyotype	References
1	MF	65	46,X,der(Y)t(Y;1)(q12;q12)	[9]
2	CMML	69	46,X,der(Y)t(Y;1)(q12;q12),del(11)(q13)	[9]
3	PV (transition into MDS)	63	47,X,der(Y)t(Y;1)(q12;q12),+9	[8]
4	ALL	0	46,XY,t(1;19)(q23;p13)/46,idem,der(Y)t(Y;1)(q12;q12)/46,idem,der(15)t(1;15) (q12;p11)/46,idem,der(22)t(1;22)(q12;p11)	[16]
5	RAEB-1	47	46,X,der(Y)t(Y;1)(q12;q12)	[5]
6	RA	37	46,X,der(Y)t(Y;1)(q12;q12)	[4]
7	PV	69	46,X,der(Y)t(Y;1)(q12;q12)	[10]
8	ET	63	46,X,der(Y)t(Y;1)(q12;q12)	Current case

Abbreviations: MF, myelofibrosis; CMML, chronic myelomonocytic leukemia; PV, polycythemia vera; MDS, myelodysplastic syndrome; ALL, acute lymphoblastic leukemia; RAEB-1, refractory anemia with excess of blasts-1; RA, refractory anemia; ET, essential thrombocythemia.

Notes

This article is available from http://www.labmedonline.org

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