Diagnostics (Oct 2022)

Angiomatoid Fibrous Histiocytoma (AFH) of the Right Arm: An Exceptional Case with Pulmonary Metastasis and Confirmatory EWSR1::CREB1 Translocation

  • Gerardo Cazzato,
  • Carmelo Lupo,
  • Nadia Casatta,
  • Flavia Riefoli,
  • Andrea Marzullo,
  • Anna Colagrande,
  • Eliano Cascardi,
  • Senia Maria Rosaria Trabucco,
  • Giuseppe Ingravallo,
  • Biagio Moretti,
  • Eugenio Maiorano,
  • Vito Pesce,
  • Leonardo Resta

DOI
https://doi.org/10.3390/diagnostics12112616
Journal volume & issue
Vol. 12, no. 11
p. 2616

Abstract

Read online

Angiomatoid fibrous histiocytoma (AFH) is a rare neoplasm described for the first time by Enzinger in 1979, and classified by World Health Organization 2020 as intermediate malignant potential neoplasm. It mostly occurs in the subcutis and is characterized by varying proportions of epithelioid, ovoid and spindle cells in a nodular and syncytial growth pattern, with some hemorrhagic pseudovascular spaces. In this paper, we report the clinical case of a 62-year-old man who presented with AFH on the right arm, and relapsed three years after first surgical excision. After a further three years, the patient presented with an intramuscular localization of AFH, and 12 months after this, a pulmonary metastasis of AFH was diagnosed. Given the rarity of the spreading of AFH, we performed Fluorescence In Situ Hybridization (FISH) and we detected EWSR1::CREB1 gene fusion.

Keywords