Transformed dermatofibrosarcoma protuberans: real time polymerase chain reaction detection of COL1A1–PDGFB fusion transcripts in sarcomatous areas

Abstract

From a diagnostic aspect, this assay can be particularly useful in confirming the diagnosis of sarcomatous DFSP. On the other hand, the COL1A1-PDGFB fusion gene was shown in three cases of DFSP containing pleomorphic sarcoma, which supports the theory of the common histogenesis.

Dermatofibrosarcoma protuberans COL1A1-PDGFB fusion is identified in virtually all dermatofibrosarcoma protuberans cases when investigated by newly developed multiplex reverse transcription polymerase chain reaction and fluorescence in situ hybridization assays

“…1) [5,16,[27][28][29][30] with a wide variation in the reported incidence of the rearrangement in these tumors. Cases where COL1A1-PDGFB rearrangements were documented by FISH analysis have also been published [16,31].…”

Dermatofibrosarcoma Protuberans With Unusual Sarcomatous Transformation: A Series of 4 Cases With Molecular Confirmation

“…As in previous reports, this phenomenon is uncommon. 15,16,18,19 Review of the institutional files at a major cancer treatment center and the consultation files of 2 soft tissue experts (H.L.E. and C.D.M.F.)…”

“…However, sarcomatous transformation similar to undifferentiated pleomorphic sarcoma (UPS)/malignant fibrous histiocytoma (MFH) or unclassified sarcoma can occur. 15,16,18,19 We examined our files for DFSP with unusual sarcomatous transformation and material available for the molecular confirmation of the characteristic translocation.…”

No Correlation between the Molecular Subtype of COL1A1–PDGFB Fusion Gene and the Clinico-Histopathological Features of Dermatofibrosarcoma Protuberans

“…In such a case, the precise detection of the COL1A1 break point detection by using multiplex reverse transcriptase-PCR and sequencing could be useful for diagnosis or evaluation of prognosis. For this purpose we compiled a series of 172 DFSP cases with both molecular and clinico-histological data (Supplementary Table S1), including (i) 35 cases of DFSP or related tumors addressed for molecular diagnosis referral to the laboratory of Solid Tumors Genetics (Nice, France) from nine different French Hospitals and previously unreported; (ii) 22 DFSP cases previously published by our group (Pedeutour et al, 1994(Pedeutour et al, , 1995(Pedeutour et al, , 1996Simon et al, 1997;Greco et al, 1998;Navarro et al, 1998;Maire et al, 2002aMaire et al, , b, c, 2007Terrier-Lacombe et al, 2003;Jouary et al, 2007); (iii) 115 cases published between 1997 and 2008 (O'Brien et al, 1998;Wang et al, 1999Wang et al, , 2000Vanni et al, 2000;Sheng et al, 2001;Gokden et al, 2003;Sandberg et al, 2003;Sirvent et al, 2003;Saeki et al, 2003aSaeki et al, , b, 2005Saeki et al, , 2006Martin et al, 2005;Craver et al, 2006;Kashima et al, 2006;Llombart et al, 2006Llombart et al, , 2008Nakanishi et al, 2007;Szollosi et al, 2007;Takahira et al, 2007;Patel et al, 2008). The description of the clinical and histological features of the 172 cases is compiled in Supplementary Table S1.…”

“…Propensity for metastases is low but local recurrence risk is high unless a wide surgical excision is performed. In addition to the classical presentation of DFSP, several clinical and histological variants have been described, such as DFSP-containing fibrosarcomatous areas or malignant fibrous histiocytoma areas, Bednar tumor, giant cell fibroblastoma, and superficial adult fibrosarcoma (Simon et al, 1997;Sheng et al, 2001;Maire et al, 2002a;Sirvent et al, 2003;Bianchini et al, 2007;Szollosi et al, 2007). DFSP and related tumors are molecularly characterized by the presence of an abnormal chimeric gene that fuses COL1A1 (17q21.3) with platelet-derived growth factor-B chain (PDGFB) (22q13.1) (Simon et al, 1997).…”