Association of JAK2 mutation status and cytogenetic abnormalities in myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms

Jennifer Dunlap, Katalin Kelemen, Nicky Leeborg, Rita Braziel, Susan Olson, Richard Press, James Huang, Ken Gatter, Marc Loriaux, Guang Fan

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7 Citations (Scopus)

Abstract

Myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms are heterogeneous disorders. JAK2 mutation testing and karyotyping are routinely used for diagnosis but have not been incorporated into risk stratification in Philadelphia chromosome-negative myeloproliferative neoplasms. This study correlated cytogenetic abnormalities with disease stage and JAK2 status. A total of 179 cases were analyzed for the JAK2 mutation. Among them, cytogenetic data were available for 97 cases-45 of 106 JAK2+ and 52 of 73 JAK2-. The JAK2+ group showed a higher frequency of cytogenetic anomalies than the JAK2-group (23/45 [51%] vs 14/52 [27%]). Chromosome 9, chromosome 7, and 20q-were recurrent abnormalities in the JAK2+ group, whereas 13q-and trisomy 21 were common in the JAK2-group. In the JAK2+ group, chromosome 7 and complex cytogenetic abnormalities were associated with excess blasts/blastic transformation (P

Original languageEnglish (US)
Pages (from-to)709-719
Number of pages11
JournalAmerican Journal of Clinical Pathology
Volume135
Issue number5
DOIs
StatePublished - May 2011

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Chromosome Aberrations
Chromosomes, Human, Pair 7
Cytogenetics
Mutation
Philadelphia Chromosome
Karyotyping
Neoplasms
Chromosomes, Human, Pair 9
Lymphocyte Activation
Down Syndrome

Keywords

  • Cytogenetics
  • JAK2
  • Myeloid neoplasm

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

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title = "Association of JAK2 mutation status and cytogenetic abnormalities in myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms",
abstract = "Myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms are heterogeneous disorders. JAK2 mutation testing and karyotyping are routinely used for diagnosis but have not been incorporated into risk stratification in Philadelphia chromosome-negative myeloproliferative neoplasms. This study correlated cytogenetic abnormalities with disease stage and JAK2 status. A total of 179 cases were analyzed for the JAK2 mutation. Among them, cytogenetic data were available for 97 cases-45 of 106 JAK2+ and 52 of 73 JAK2-. The JAK2+ group showed a higher frequency of cytogenetic anomalies than the JAK2-group (23/45 [51{\%}] vs 14/52 [27{\%}]). Chromosome 9, chromosome 7, and 20q-were recurrent abnormalities in the JAK2+ group, whereas 13q-and trisomy 21 were common in the JAK2-group. In the JAK2+ group, chromosome 7 and complex cytogenetic abnormalities were associated with excess blasts/blastic transformation (P",
keywords = "Cytogenetics, JAK2, Myeloid neoplasm",
author = "Jennifer Dunlap and Katalin Kelemen and Nicky Leeborg and Rita Braziel and Susan Olson and Richard Press and James Huang and Ken Gatter and Marc Loriaux and Guang Fan",
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AU - Dunlap, Jennifer

AU - Kelemen, Katalin

AU - Leeborg, Nicky

AU - Braziel, Rita

AU - Olson, Susan

AU - Press, Richard

AU - Huang, James

AU - Gatter, Ken

AU - Loriaux, Marc

AU - Fan, Guang

PY - 2011/5

Y1 - 2011/5

N2 - Myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms are heterogeneous disorders. JAK2 mutation testing and karyotyping are routinely used for diagnosis but have not been incorporated into risk stratification in Philadelphia chromosome-negative myeloproliferative neoplasms. This study correlated cytogenetic abnormalities with disease stage and JAK2 status. A total of 179 cases were analyzed for the JAK2 mutation. Among them, cytogenetic data were available for 97 cases-45 of 106 JAK2+ and 52 of 73 JAK2-. The JAK2+ group showed a higher frequency of cytogenetic anomalies than the JAK2-group (23/45 [51%] vs 14/52 [27%]). Chromosome 9, chromosome 7, and 20q-were recurrent abnormalities in the JAK2+ group, whereas 13q-and trisomy 21 were common in the JAK2-group. In the JAK2+ group, chromosome 7 and complex cytogenetic abnormalities were associated with excess blasts/blastic transformation (P

AB - Myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms are heterogeneous disorders. JAK2 mutation testing and karyotyping are routinely used for diagnosis but have not been incorporated into risk stratification in Philadelphia chromosome-negative myeloproliferative neoplasms. This study correlated cytogenetic abnormalities with disease stage and JAK2 status. A total of 179 cases were analyzed for the JAK2 mutation. Among them, cytogenetic data were available for 97 cases-45 of 106 JAK2+ and 52 of 73 JAK2-. The JAK2+ group showed a higher frequency of cytogenetic anomalies than the JAK2-group (23/45 [51%] vs 14/52 [27%]). Chromosome 9, chromosome 7, and 20q-were recurrent abnormalities in the JAK2+ group, whereas 13q-and trisomy 21 were common in the JAK2-group. In the JAK2+ group, chromosome 7 and complex cytogenetic abnormalities were associated with excess blasts/blastic transformation (P

KW - Cytogenetics

KW - JAK2

KW - Myeloid neoplasm

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