Dermatofibrosarcoma protuberans (DFSP) is a rare low-grade soft tissue sarcoma. Its congenital form poses distinct diagnostic and therapeutic challenges, often resembling benign entities like hemangiomas or vascular malformations, which can lead to misdiagnosis and treatment delays. This review delves into the epidemiology, clinical manifestations, and diagnostic strategies for DFSP, with an emphasis on the use of advanced molecular techniques, such as FISH and RT-PCR, for the detection of the COL1A1-PDGFB fusion gene, a definitive marker of DFSP. We also explore emerging non-invasive imaging technologies, including multispectral and optical coherence, which, while promising, still require further validation. This review underscores the importance of differential diagnosis from similar conditions, such as medallion-like dermal dendritic hamartoma (MLDDH), through an integrated approach that combines histopathology, immunohistochemistry, and molecular testing. Surgical excision, particularly using Mohs micrographic surgery, is preferred to achieve oncologic safety while preserving aesthetic and functional results in pediatric cases. Furthermore, we discuss the potential of adjuvant therapies like tyrosine kinase inhibitors in treating advanced or inoperable cases. Highlighting the critical role of early detection and a collaborative treatment strategy, this review aims to enhance diagnostic precision and access to innovative treatments, ensuring optimal management for this severe, yet rare, condition.
Cassalia, F., Danese, A., Cocchi, E., Vaienti, S., Bolzon, A., Franceschin, L., et al. (2025). Congenital Dermatofibrosarcoma Protuberans—An Update on the Ongoing Diagnostic Challenges. CANCERS, 17(1), 1-2 [10.3390/cancers17010158].
Congenital Dermatofibrosarcoma Protuberans—An Update on the Ongoing Diagnostic Challenges
Cocchi, Enrico;Melandri, Davide;
2025
Abstract
Dermatofibrosarcoma protuberans (DFSP) is a rare low-grade soft tissue sarcoma. Its congenital form poses distinct diagnostic and therapeutic challenges, often resembling benign entities like hemangiomas or vascular malformations, which can lead to misdiagnosis and treatment delays. This review delves into the epidemiology, clinical manifestations, and diagnostic strategies for DFSP, with an emphasis on the use of advanced molecular techniques, such as FISH and RT-PCR, for the detection of the COL1A1-PDGFB fusion gene, a definitive marker of DFSP. We also explore emerging non-invasive imaging technologies, including multispectral and optical coherence, which, while promising, still require further validation. This review underscores the importance of differential diagnosis from similar conditions, such as medallion-like dermal dendritic hamartoma (MLDDH), through an integrated approach that combines histopathology, immunohistochemistry, and molecular testing. Surgical excision, particularly using Mohs micrographic surgery, is preferred to achieve oncologic safety while preserving aesthetic and functional results in pediatric cases. Furthermore, we discuss the potential of adjuvant therapies like tyrosine kinase inhibitors in treating advanced or inoperable cases. Highlighting the critical role of early detection and a collaborative treatment strategy, this review aims to enhance diagnostic precision and access to innovative treatments, ensuring optimal management for this severe, yet rare, condition.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.