Lab Med Online.  2016 Jul;6(3):183-186. 10.3343/lmo.2016.6.3.183.

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

Affiliations
  • 1Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea. jyhan@dau.ac.kr
  • 2Department of Laboratory Medicine, Seegene Medical Foundation, Busan, Korea.
  • 3Department of Internal Medicine, Dong-A University College of Medicine, Busan, Korea.

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.

Keyword

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

MeSH Terms

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*

Figure

  • 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.


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