t(Y;1)(q12;q12)

Identity

	der(Y)t(Y;1)(q12;q12) G-banding

Clinics and Pathology

Disease	10 cases of hematological malignancy with der(Y)t(Y;1) had been reported to date. There were 8 cases of myelodysplastic syndrome, 1 case of polycythemia vera and 1 case of myelofibrosis.
Phenotype / cell stem origin	Suggested involvement of a pluripotent stem cell or a myeloid progenitor cell
Etiology	Presence of der(Y)t(Y;1)(q12;q12) abnormality is relatively restricted to myelodysplastic syndrome.
Prognosis	Owing to the small number of cases reported, the prognostic implication of der(Y)t(Y;1) remains to be defined. It is however known to be compatible with long survival of up to 13 Ð 15 years. This aberration occurs as a transient abnormality in one case.

Cytogenetics

Cytogenetics Morphological

found it the unbalanced form + der(Y)t(Y;1)(q12;q12)

Genes involved and Proteins

Note

Genes involved are unknown. Whether an increased dosage of gene products located at 1q12-qter or the breakpoint at chromosomal location of Yq12 is important in the pathogenesis of MDS remains to be elucidated. Furthermore, since juxtaposition of heterochromatin and euchromatin has been shown to affect gene function, this may contribute to the pathogenic mechanism underlying der(Y)t(Y;1) as the heterochromatin at Yq12 is involved in the translocation.

External links

Other database	t(Y;1)(q12;q12)	Mitelman database (CGAP - NCBI)
Other database	t(Y;1)(q12;q12)	CancerChromosomes (NCBI)

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section.

Bibliography

Karyotypic patterns and their clinical significance in polycythemia vera.

Testa JR, Kanofsky JR, Rowley JD, Baron JM, Vardiman JW

American journal of hematology. 1981 ; 11 (1) : 29-45.

PMID 6943932

An identical t(Y;1)(q12;q21) in two patients with myelodysplastic syndromes.

Hollings PE, Giles LM, Rosman I, Fitzgerald PH

Cancer genetics and cytogenetics. 1988 ; 34 (2) : 285-293.

PMID 3165704

Transient t(Y;1)(q12;q21) in a patient with Fanconi anemia and myelodysplastic syndrome.

Thompson PW, Standen GR, Geddes AD

Cancer genetics and cytogenetics. 1991 ; 52 (2) : 201-202.

PMID 2021922

Translocation (Y;1)(q12;q21) in acute leukemia.

Singh S, Wass J, Devaraj J, Young G, Vincent P

Cancer genetics and cytogenetics. 1993 ; 70 (2) : 136-139.

PMID 8242595

der(Y)t(Y;1) is a nonrandom abnormality in myelodysplastic syndrome.

Wei DC, Wan TS, Chan LC, Cheng PN

Cancer genetics and cytogenetics. 1993 ; 70 (2) : 155-156.

PMID 8242602

A rosy future for heterochromatin.

Cook KR, Karpen GH

Proceedings of the National Academy of Sciences of the United States of America. 1994 ; 91 (12) : 5219-5221.

PMID 8031404

Translocation (Y;1)(q12;q12) in hematologic malignancies. Report on two new cases, FISH characterization, and review of the literature.

Michaux L, Wlodarska I, Vellosa ER, Verhoef G, Van Orshoven A, Michaux JL, Scheiff JM, Mecucci C, Van den Berghe H

Cancer genetics and cytogenetics. 1996 ; 86 (1) : 35-38.

PMID 8616783

Derivative (y)t(Y;1)(q12;q12),+9 in a patient with polycythemia vera during transition into myelodysplasia.

Raymakers R, Stellink F, Geurts van Kessel A

Cancer genetics and cytogenetics. 1996 ; 88 (1) : 83-85.

PMID 8630987

Association between der(Y)t(Y;1)(q12;q12) and myelodysplastic syndrome.

Wan TSK, Ma SK, Chan LC, Au WY

Cancer Genet Cytogenet. 2001 ; 124 : 84-85.

Contributor(s)

Written	05-2002	Thomas SK Wan and Edmond SK Ma
		Department of Pathology, University of Hong Kong, Pokfulam Road, Hong Kong, R.P. of China

Citation

This paper should be referenced as such :

Wan TSK, Ma ESK . t(Y;1)(q12;q12). Atlas Genet Cytogenet Oncol Haematol. May 2002 . URL : http://AtlasGeneticsOncology.org/Genes/tY1q12q12ID1160.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Fri Sep 5 17:10:36 2008

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