PMID- 25081750 OWN - NLM STAT- MEDLINE DCOM- 20151028 LR - 20230210 IS - 1530-0285 (Electronic) IS - 0893-3952 (Linking) VI - 28 IP - 2 DP - 2015 Feb TI - Fluorescence in situ hybridization analysis is a helpful test for the diagnosis of dermatofibrosarcoma protuberans. PG - 230-7 LID - 10.1038/modpathol.2014.97 [doi] AB - Cytogenetically, most dermatofibrosarcoma protuberans are characterized by chromosomal rearrangements resulting in the collagen type-1 alpha 1 (COL1A1)-platelet-derived growth factor beta (PDGFB) fusion gene. This abnormality can be detected by fluorescence in situ hybridization (FISH) analysis in routine practice. The aim of this study was to evaluate the role of the FISH analysis in the diagnosis of dermatofibrosarcoma protuberans. A FISH analysis was prospectively and systematically performed on a series of 448 consecutive tumor specimens. All cases were reviewed by two independent pathologists and classified in three categories according to the probability of a DFSP diagnosis before molecular analyses. Cases were classified as certain when dermatofibrosarcoma protuberans was the only possible diagnosis. Those cases for which dermatofibrosarcoma protuberans remained the first diagnosis, but other differential diagnosis existed, were regarded as probable. When dermatofibrosarcoma protuberans was considered a differential diagnosis, they were labeled as possible. The final diagnosis was supported by clinicopathological findings and results of FISH analyses. Immunohistochemical analysis of CD34 was systematically performed, and additional markers when necessary. The cases (n=37) with a non-interpretable FISH were excluded. For the 185 certain tumors specimens: 178 (96%) FISH analyses showed a PDGFB/COL1A1 rearrangement, 7 (4%) were negative. For the 114 probable tumors specimens: 104 (91%) FISH analyses were positive and 10 (9%) were negative leading to a new diagnosis in 8 cases. For the 112 possible cases: 91 (81%) FISH analyses were negative and 21 (19%) were positive. Of the 21 cases, initial diagnoses included unclassified sarcoma, myxofibrosarcoma, dermatofibroma, reactive lesion, solitary fibrous tumor, perineurioma, benign nerve sheath tumor, and undifferentiated spindle cell tumor without malignant evidence. FISH analysis has been helpful for confirming the diagnosis of dermatofibrosarcoma protuberans in 25% (104/411) of cases and necessary for the diagnosis of dermatofibrosarcoma protuberans in 5% (21/411) of cases. FAU - Karanian, Marie AU - Karanian M AD - 1] Department of Pathology, Institut Bergonie, Bordeaux, France [2] INSERM U916, Bordeaux, France [3] Universite de Bordeaux, Bordeaux, France. FAU - Perot, Gaelle AU - Perot G AD - 1] Department of Pathology, Institut Bergonie, Bordeaux, France [2] INSERM U916, Bordeaux, France. FAU - Coindre, Jean-Michel AU - Coindre JM AD - 1] Department of Pathology, Institut Bergonie, Bordeaux, France [2] INSERM U916, Bordeaux, France [3] Universite de Bordeaux, Bordeaux, France. FAU - Chibon, Frederic AU - Chibon F AD - 1] Department of Pathology, Institut Bergonie, Bordeaux, France [2] INSERM U916, Bordeaux, France. FAU - Pedeutour, Florence AU - Pedeutour F AD - Laboratoire de Genetique des Tumeurs Solides, Institute for Research on Cancer and Aging (IRCAN), University Hospital of Nice, Bordeaux, France. FAU - Neuville, Agnes AU - Neuville A AD - 1] Department of Pathology, Institut Bergonie, Bordeaux, France [2] INSERM U916, Bordeaux, France [3] Universite de Bordeaux, Bordeaux, France. LA - eng PT - Clinical Trial PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20140801 PL - United States TA - Mod Pathol JT - Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc JID - 8806605 RN - 0 (Biomarkers, Tumor) RN - 0 (COLIA1-PDGFB fusion protein, human) RN - 0 (Oncogene Proteins, Fusion) SB - IM MH - Adolescent MH - Adult MH - Aged MH - Aged, 80 and over MH - Biomarkers, Tumor/genetics MH - Child MH - Child, Preschool MH - Dermatofibrosarcoma/*diagnosis/genetics MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence/methods MH - Infant MH - Male MH - Middle Aged MH - Oncogene Proteins, Fusion/*analysis MH - Skin Neoplasms/*diagnosis/genetics EDAT- 2014/08/02 06:00 MHDA- 2015/10/29 06:00 CRDT- 2014/08/02 06:00 PHST- 2014/04/08 00:00 [received] PHST- 2014/05/17 00:00 [revised] PHST- 2014/05/18 00:00 [accepted] PHST- 2014/08/02 06:00 [entrez] PHST- 2014/08/02 06:00 [pubmed] PHST- 2015/10/29 06:00 [medline] AID - S0893-3952(22)03485-8 [pii] AID - 10.1038/modpathol.2014.97 [doi] PST - ppublish SO - Mod Pathol. 2015 Feb;28(2):230-7. doi: 10.1038/modpathol.2014.97. Epub 2014 Aug 1.