An Atypical Myelomonocytic Cell Infiltrate: Use of Next-Generation Sequencing to Diagnose Indeterminate Cell Histiocytosis.

Journal Article (Journal Article)

Indeterminant cell histiocytosis (ICH) is a rare lymphoproliferative disorder that demonstrates features of Langerhans and non-Langerhans cell histiocytoses and diagnosis can be challenging. We present a case of a 62 year old woman with a generalized eruption of erythematous papules on the face, trunk and extremities. Skin biopsies demonstrated a dermal mononuclear cell infiltrate with monocytic (CD4, CD33), histiocytic (CD68, CD163), and dendritic cell (CD1a) immunophenotype but negative for Langerhans' cell marker (CD207). The differential diagnosis included leukemia cutis and ICH, and further workup revealed a normal bone marrow biopsy. To confirm the diagnosis of ICH, next generation sequencing with ETV3-NCOA2 gene fusion was performed and was positive. The patient's condition improved with methotrexate and narrow band UVB phototherapy. Our case adds to the existing literature supporting the use of next-generation sequencing to test for ETV3-NCOA2 gene fusion in suspected cases of ICH.

Full Text

Duke Authors

Cited Authors

  • Belina, ME; Kwock, JT; Al-Rohil, R; Fresco, A

Published Date

  • July 1, 2022

Published In

Volume / Issue

  • 44 / 7

Start / End Page

  • 529 - 531

PubMed ID

  • 35234186

Electronic International Standard Serial Number (EISSN)

  • 1533-0311

Digital Object Identifier (DOI)

  • 10.1097/DAD.0000000000002167


  • eng

Conference Location

  • United States