Phospho-ERK(THR202/Tyr214) is overexpressed in hairy cell leukemia and is a useful diagnostic marker in bone marrow trephine sections

Am J Surg Pathol. 2013 Feb;37(2):305-8. doi: 10.1097/PAS.0b013e3182712481.

Abstract

BRAF V600E mutations are present in virtually all cases of hairy cell leukemia (HCL). We hypothesized that detection of phospho-ERK (pERK) in tissue sections may be a useful marker for diagnosis of HCL. pERK/CD20 double immunostaining was performed on 90 formalin-fixed bone marrow trephine samples affected with small B-cell lymphoproliferative disorders, including 28 cases of HCL. pERK staining was observed in all 28 cases of HCL and in 1 of 62 cases of non-HCL B-cell lymphoproliferative disorders. By allele-specific polymerase chain reaction, all 11 cases of HCL with available DNA were positive for BRAF V600E, as was the 1 pERK non-HCL case. The remaining 31 non-HCL cases tested were negative for BRAF V600E. The sensitivity and specificity of pERK for diagnosis of HCL was 100% and 98%, respectively. We conclude that the presence of pERK as detected by immunohistochemical staining is a useful surrogate marker for BRAF V600E in the diagnosis of HCL.

MeSH terms

  • Biomarkers, Tumor / metabolism*
  • Bone Marrow Cells / metabolism
  • Bone Marrow Cells / pathology
  • Bone Marrow Examination / methods
  • Cell Line, Tumor
  • DNA, Neoplasm / analysis
  • Diagnosis, Differential
  • Extracellular Signal-Regulated MAP Kinases / metabolism*
  • Humans
  • Leukemia, Hairy Cell / diagnosis*
  • Leukemia, Hairy Cell / enzymology*
  • Phosphorylation
  • Point Mutation
  • Proto-Oncogene Proteins B-raf / genetics
  • Reproducibility of Results
  • Sensitivity and Specificity

Substances

  • Biomarkers, Tumor
  • DNA, Neoplasm
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf
  • Extracellular Signal-Regulated MAP Kinases