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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

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.

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).

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Fig. 2

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

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Fig. 3

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

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Table 1

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

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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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