Cutaneous myelofibrosis with JAK2 V617F mutation: metastasis, not merely extramedullary hematopoiesis!

Am J Dermatopathol. 2010 Oct;32(7):727-30. doi: 10.1097/DAD.0b013e3181d3ca2f.

Abstract

Primary myelofibrosis (PMF) is a myeloproliferative neoplasm. There are 31 reported cases of cutaneous involvement by PMF, most of which have been described as "extramedullary hematopoiesis." We report a new case of cutaneous involvement by PMF and demonstrate mutation of the Janus kinase 2 gene in the cutaneous lesions. Extramedullary myelofibrosis is best considered a metastatic phenomenon. Reporting such cases as extramedullary hematopoiesis may cause confusion with reactive forms of extramedullary hematopoiesis.

Publication types

  • Case Reports

MeSH terms

  • Aged, 80 and over
  • Diagnosis, Differential
  • Fatal Outcome
  • Hematopoiesis, Extramedullary*
  • Humans
  • Janus Kinase 2 / genetics*
  • Male
  • Mutation
  • Primary Myelofibrosis / genetics*
  • Primary Myelofibrosis / pathology
  • Primary Myelofibrosis / physiopathology
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology
  • Skin Neoplasms / physiopathology

Substances

  • Janus Kinase 2