TY - JOUR
T1 - Evaluation of "increased" hemoglobin in the JAK2 mutations era
T2 - A diagnostic algorithm based on genetic tests
AU - Tefferi, Ayalew
AU - Pardanani, Animesh
N1 - Funding Information:
I would like to thank Rob Holman, William McDougal and Farouk Abdel-Aal for their discussions of the many topics covered in this chapter and for their useful reviews of the manuscript. This review was undertaken with support from the Office of Naval Research, Geography Branch, under contract NR 388-168.
PY - 2007/5
Y1 - 2007/5
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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U2 - 10.4065/82.5.599
DO - 10.4065/82.5.599
M3 - Article
C2 - 17493421
AN - SCOPUS:34248146662
SN - 0025-6196
VL - 82
SP - 599
EP - 604
JO - Mayo Clinic proceedings
JF - Mayo Clinic proceedings
IS - 5
ER -