Fine-needle aspiration of dermatofibrosarcoma protuberans metastasizing to hemithorax with superior vena cava compression: Case report and literature review

Diagn Cytopathol. 2019 Aug;47(8):797-802. doi: 10.1002/dc.24179. Epub 2019 Mar 27.


Dermatofibrosarcoma protuberans (DFSP) is a low-grade spindle cell tumor of the skin commonly arising on the trunk and extremities which tends to be slow growing yet locally aggressive. DFSPs are associated with a good prognosis when surgical excision with negative margins is achieved. Although local recurrences occur up to 50% of incompletely resected cases, distant metastases are very rare. Here, we report a case of DFSP metastasizing to the right hemithorax diagnosed by an endobronchial ultrasound-guided fine-needle aspiration (FNA) 9 years after initial presentation. The aspirate showed a bland spindle cell proliferation that was morphologically similar to the original skin excision; the storiform pattern was particularly prominent in tumor-tissue fragments in the cellblock. Immunostaining showed strong, diffuse positivity for CD34. Molecular studies demonstrated a characteristic COL1A1/PDGFB fusion in both original and metastatic specimens. A review of the literature revealed that metastatic DFSP most often involves the lungs, occurs usually in cases with fibrosarcomatous transformation and after a local recurrence, and presents on average 4.5 years after the original diagnosis. This case did not show fibrosarcomatous transformation or local recurrence prior to metastasis 9 years later. In summary, it is important to consider the potential for metastases years after a nonrecurring primary DFSP, despite its rarity. Cytologic features when complemented by ancillary studies and awareness of the patient's prior clinical history permit a confident diagnosis of metastatic DFSP by FNA. In addition, by confirming the characteristic translocation, tyrosine-kinase inhibitor imatinib can provide additional treatment options for unresectable metastatic DFSP.

Keywords: COL1A1 PDGFB fusion; dermatofibrosarcoma protuberans; metastatic dermatofibrosarcoma protuberans; pulmonary metastasis.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Biopsy, Fine-Needle
  • Dermatofibrosarcoma / pathology*
  • Female
  • Humans
  • Oncogene Proteins, Fusion / metabolism
  • Radiography, Thoracic
  • Skin Neoplasms / pathology*
  • Thoracic Neoplasms / diagnostic imaging
  • Thoracic Neoplasms / secondary*
  • Ultrasonography
  • Vena Cava, Superior / pathology*


  • Oncogene Proteins, Fusion