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rdf:type |
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lifeskim:mentions |
umls-concept:C0008625,
umls-concept:C0026882,
umls-concept:C0030705,
umls-concept:C0034897,
umls-concept:C0040028,
umls-concept:C0040715,
umls-concept:C0332281,
umls-concept:C0449258,
umls-concept:C0599718,
umls-concept:C0599813,
umls-concept:C0599893,
umls-concept:C1334291,
umls-concept:C1522702
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pubmed:issue |
9
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pubmed:dateCreated |
2011-8-15
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pubmed:abstractText |
A cohort of 338 patients diagnosed with myeloproliferative neoplasms was investigated by conventional cytogenetics and evaluated for the presence of the JAK2 V617F mutation. A t(1;9)(p10;q10) in addition to two extra der(1;9)(q10;p10) chromosomes was observed in two patients of essential thrombocythemia that transformed to acute myelogenous leukemia or to myelofibrosis. These findings suggest that the presence of extra derivative chromosomes der(1q;9p) in combination with the JAK2 V617F mutation may play a role in the progression of myeloproliferative neoplasms and supports the use of cytogenetics in the follow-up of the disease.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1873-5835
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pubmed:author |
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pubmed:copyrightInfo |
Published by Elsevier Ltd.
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pubmed:issnType |
Electronic
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pubmed:volume |
35
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1188-92
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pubmed:meshHeading |
pubmed-meshheading:21376394-Aged,
pubmed-meshheading:21376394-Aged, 80 and over,
pubmed-meshheading:21376394-Amino Acid Substitution,
pubmed-meshheading:21376394-Chromosome Aberrations,
pubmed-meshheading:21376394-Chromosomes, Human, Pair 1,
pubmed-meshheading:21376394-Chromosomes, Human, Pair 9,
pubmed-meshheading:21376394-Cohort Studies,
pubmed-meshheading:21376394-Disease Progression,
pubmed-meshheading:21376394-Female,
pubmed-meshheading:21376394-Humans,
pubmed-meshheading:21376394-Janus Kinase 2,
pubmed-meshheading:21376394-Male,
pubmed-meshheading:21376394-Middle Aged,
pubmed-meshheading:21376394-Mutation, Missense,
pubmed-meshheading:21376394-Phenylalanine,
pubmed-meshheading:21376394-Recurrence,
pubmed-meshheading:21376394-Thrombocythemia, Essential,
pubmed-meshheading:21376394-Translocation, Genetic,
pubmed-meshheading:21376394-Valine
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pubmed:year |
2011
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pubmed:articleTitle |
Translocation t(1;9) is a recurrent cytogenetic abnormality associated with progression of essential thrombocythemia patients displaying the JAK2 V617F mutation.
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pubmed:affiliation |
GenPath, BioReference Laboratories, Elmwood Park, NJ, USA. ameredith@bioreference.com
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pubmed:publicationType |
Journal Article
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