Switch in X-inactivation in a JAK2 V617F-negative case of polycythemia vera with two acquired X-autosome translocations.
Leuk Res
; 31(7): 1009-14, 2007 Jul.
Article
em En
| MEDLINE
| ID: mdl-17204324
ABSTRACT
We report a JAK2 V617F-negative case of polycythemia vera with two acquired balanced X-autosome translocations and no history of previous exposure to chemo/radiotherapy. The patient's first clone carried a novel translocation t(X;15)(q24;q13) as a sole abnormality. The second clone exhibited an additional translocation, t(X;20)(q13;q13.3), which is a rare recurrent abnormality in myeloid malignancies. This is the first report of a hematological disorder with both X chromosomes being translocated. Late replication studies revealed a switch in X-inactivation from the X chromosome involved in t(X;15) (first clone) to the X chromosome involved in the t(X;20)(q13;q13.3) (second clone). The inactivation of the translocated X chromosomes could provide potential for the inactivation of the adjacent autosomal regions, resulting in epigenetic gene silencing.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Policitemia Vera
/
Translocação Genética
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Cromossomos Humanos Par 5
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Transtornos Cromossômicos
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Cromossomos Humanos X
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Inativação do Cromossomo X
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Janus Quinase 2
Limite:
Aged
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Female
/
Humans
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article