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

• Lim HH
• Choi JL
• Kim BR
• Woo KS
• Kim KH
• Kim JM
• Kim SH
• Han JY

• KMID: 2308735
• DOI: http://doi.org/10.3343/lmo.2016.6.3.183

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.

Reference

1. Mitelman F, Martens F, Johansson B. A breakpoint map of recurrent chromosomal rearrangements in human neoplasia. Nat Genet. 1997; 15:417–474.

2. Testa JR, Kanofsky JR, Rowley JD, Baron JM, Vardiman JW. Karyotypic patterns and their clinical significance in polycythemia vera. Am J Hematol. 1981; 11:29–45.

3. Thompson PW, Standen GR, Geddes AD. Transient t(Y;1)(q12;q21) in a patient with Fanconi anemia and myelodysplastic syndrome. Cancer Genet Cytogenet. 1991; 52:201–202.

4. Djordjević V, Dencić-Fekete M, Jovanović J, Drakulić D, Stevanović M, Janković G, et al. Pattern of trisomy 1q in hematological malignancies: a single institution experience. Cancer Genet Cytogenet. 2008; 186:12–18.

5. Wan TSK, Ma SK, Chan LC, Au WY. Association between der(Y)t(Y;1)(q12;q12) and myelodysplastic syndrome. Cancer Genet Cytogenet. 2001; 124:84–85.

6. Hollings PE, Giles LM, Rosman I, Fitzgerald PH. An identical t(Y;1)(q12;q21) in two patients with myelodysplastic syndromes. Cancer Genet Cytogenet. 1988; 34:285–293.

7. Wei DC, Wan TS, Chan LC, Cheng PN. der(Y)t(Y;1) is a nonrandom abnormality in myelodysplastic syndrome. Cancer Genet Cytogenet. 1993; 70:155–156.

8. Raymakers R, Stellink F, Geurts van Kessel A. Derivative (y)t(Y;1)(q12;q12), +9 in a patient with polycythemia vera during transition into myelodysplasia. Cancer Genet Cytogenet. 1996; 88:83–85.

9. Michaux L, Wlodarska I, Vellosa ER, Verhoef G, Van Orshoven A, Michaux JL, et al. Translocation (Y;1)(q12;q12) in hematologic malignancies. Report of two cases, FISH characterization, and review of the literature. Cancer Genet Cytogenet. 1996; 86:35–38.

10. Manabe M, Takeda O, Okita J, Takakuwa T, Harada N, Nakano H, et al. A rare der(Y)t(Y;1)(q12;q12) in a patient with post-polycythemic myelofibrosis: a case report. Am J Blood Res. 2013; 3:186–190.

11. Ohsaka A, Hisa T. Spectral karyotyping refined the identification of a der(Y)t(Y;1)(q11.1 or .2;q12) in the blast cells of a patient with atypical chronic myeloid leukemia. Acta Haematol. 2002; 107:224–229.

12. Haupt R, Comelli A, Garré ML, Defferrari R, Fugazza G, Basso G, et al. Cytogenetics of infantile leukemias and its correlations with bio-clinical features. The "G. Gaslini" Children's Hospital experience over a 9-year period. Haematologica. 1991; 76:109–112.

13. Bao L, Wang X, Ryder J, Ji M, Chen Y, Chen H, et al. Prospective study of 174 de novo acute myelogenous leukemias according to the WHO classification: subtypes, cytogenetic features and FLT3 mutations. Eur J Haematol. 2006; 77:35–45.

14. Singh S, Wass J, Devaraj J, Young G, Vincent P. Translocation (Y;1)(q12;q21) in acute leukemia. Cancer Genet Cytogenet. 1993; 70:136–139.

15. Dayton VD, Arthur DC, Gajl-Peczalska KJ, Brunning R. L3 acute lymphoblastic leukemia. Comparison with small noncleaved cell lymphoma involving the bone marrow. Am J Clin Pathol. 1994; 101:130–139.

16. Heerema NA, Sather HN, Ge J, Arthur DC, Hilden JM, Trigg ME, et al. Cytogenetic studies of infant acute lymphoblastic leukemia: poor prognosis of infants with t(4;11) -a report of the Children's Cancer Group. Leukemia. 1999; 13:679–686.

17. Lones MA, Sanger WG, Le Beau MM, Heerema NA, Sposto R, Perkins SL, et al. Chromosome abnormalities may correlate with prognosis in Burkitt/Burkitt-like lymphomas of children and adolescents: a report from Children's Cancer Group Study CCG-E08. J Pediatr Hematol Oncol. 2004; 26:169–178.

18. Tanaka S, Nishigaki H, Nakagawa H, Okuda T, Nishida K, Tsuda S, et al. Reciprocal t(14;19)(q32.3;q13.1) in a patient with B-cell lymphoma. Cancer Genet Cytogenet. 1990; 49:219–224.

19. Wan TS, Ma SK, Au WY, Chan LC. Derivative (1;18)(q10;q10): a recurrent and novel unbalanced translocation involving 1q in myeloid disorders. Cancer Genet Cytogenet. 2001; 128:35–38.

20. Caramazza D, Hussein K, Siragusa S, Pardanani A, Knudson RA, Ketterling RP, et al. Chromosome 1 abnormalities in myeloid malignancies: a literature survey and karyotype-phenotype associations. Eur J Haematol. 2010; 84:191–200.