Evaluation of "increased" hemoglobin in the JAK2 mutations era: A diagnostic algorithm based on genetic tests

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Abstract

Recent discoveries in the molecular pathogenesis of both polycythemia vera (PV) and congenital polycythemia (CP) underline the prospect of a genetic diagnosis in these disorders. At the forefront are the mutually exclusive exon 14 (JAK2V617F) and exon 12 JAK2 mutations that are almost always present in PV but not in polycythemias of other causes. Similarly, the molecular basis of CP is being unraveled, and several cases are now associated with germline mutations involving the von Hippel-Lindau (VHL) or erythropoletin receptor (EPOR) genes. Therefore, current diagnostic work-up for acquired polycythemia should start with peripheral blood JAK2 mutation screening, whereas VHL and/or EPOR mutations should be considered when CP is suspected. In all instances, serum erythropoietin measurement provides complementary information; the serum erythropoietin level is expected to be decreased in PV regardless of JAK2 mutation status, increased in VHL mutation-associated CP, and decreased or normal in the presence of an EPOR mutation.

Original languageEnglish (US)
Pages (from-to)599-604
Number of pages6
JournalMayo Clinic Proceedings
Volume82
Issue number5
DOIs
StatePublished - 2007

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Polycythemia
Hemoglobins
Polycythemia Vera
Mutation
Erythropoietin
Exons
Germ-Line Mutation
Serum
Genes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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title = "Evaluation of {"}increased{"} hemoglobin in the JAK2 mutations era: A diagnostic algorithm based on genetic tests",
abstract = "Recent discoveries in the molecular pathogenesis of both polycythemia vera (PV) and congenital polycythemia (CP) underline the prospect of a genetic diagnosis in these disorders. At the forefront are the mutually exclusive exon 14 (JAK2V617F) and exon 12 JAK2 mutations that are almost always present in PV but not in polycythemias of other causes. Similarly, the molecular basis of CP is being unraveled, and several cases are now associated with germline mutations involving the von Hippel-Lindau (VHL) or erythropoletin receptor (EPOR) genes. Therefore, current diagnostic work-up for acquired polycythemia should start with peripheral blood JAK2 mutation screening, whereas VHL and/or EPOR mutations should be considered when CP is suspected. In all instances, serum erythropoietin measurement provides complementary information; the serum erythropoietin level is expected to be decreased in PV regardless of JAK2 mutation status, increased in VHL mutation-associated CP, and decreased or normal in the presence of an EPOR mutation.",
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T1 - Evaluation of "increased" hemoglobin in the JAK2 mutations era

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AU - Tefferi, Ayalew

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N2 - Recent discoveries in the molecular pathogenesis of both polycythemia vera (PV) and congenital polycythemia (CP) underline the prospect of a genetic diagnosis in these disorders. At the forefront are the mutually exclusive exon 14 (JAK2V617F) and exon 12 JAK2 mutations that are almost always present in PV but not in polycythemias of other causes. Similarly, the molecular basis of CP is being unraveled, and several cases are now associated with germline mutations involving the von Hippel-Lindau (VHL) or erythropoletin receptor (EPOR) genes. Therefore, current diagnostic work-up for acquired polycythemia should start with peripheral blood JAK2 mutation screening, whereas VHL and/or EPOR mutations should be considered when CP is suspected. In all instances, serum erythropoietin measurement provides complementary information; the serum erythropoietin level is expected to be decreased in PV regardless of JAK2 mutation status, increased in VHL mutation-associated CP, and decreased or normal in the presence of an EPOR mutation.

AB - Recent discoveries in the molecular pathogenesis of both polycythemia vera (PV) and congenital polycythemia (CP) underline the prospect of a genetic diagnosis in these disorders. At the forefront are the mutually exclusive exon 14 (JAK2V617F) and exon 12 JAK2 mutations that are almost always present in PV but not in polycythemias of other causes. Similarly, the molecular basis of CP is being unraveled, and several cases are now associated with germline mutations involving the von Hippel-Lindau (VHL) or erythropoletin receptor (EPOR) genes. Therefore, current diagnostic work-up for acquired polycythemia should start with peripheral blood JAK2 mutation screening, whereas VHL and/or EPOR mutations should be considered when CP is suspected. In all instances, serum erythropoietin measurement provides complementary information; the serum erythropoietin level is expected to be decreased in PV regardless of JAK2 mutation status, increased in VHL mutation-associated CP, and decreased or normal in the presence of an EPOR mutation.

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