Fine‐needle aspiration of dermatofibrosarcoma protuberans metastasizing to hemithorax with superior vena cava compression: Case report and literature review. Issue 8 (27th March 2019)

• Record Type: Journal Article
• Authors: Banach, Bridget S.; Antic, Tatjana; Bridge, Julia A.; Cipriani, Nicole A.; Frye, Laura; Krausz, Thomas N.; Biernacka, Anna
• Is Part Of: Diagnostic cytopathology. Volume 47:Issue 8(2019)
• Page Start: 797
• Page End: 802
• Publication Date: 2019-03-27
• Subjects: COL1A1 PDGFB fusion -- dermatofibrosarcoma protuberans -- metastatic dermatofibrosarcoma protuberans -- pulmonary metastasis; Cytodiagnosis -- Periodicals; Pathology, Cellular -- Periodicals; Cytology -- Periodicals; 616.07582
• DOI: 10.1002/dc.24179
• Languages: English
• ISSNs: 8755-1039

Abstract

Abstract : 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.