Stromelysin-3 expression in the differential diagnosis of dermatofibroma and dermatofibrosarcoma protuberans: comparison with factor XIIIa and CD34

Kim, H.J.; Lee, J.Y.; Kim, S.H.; Seo, Young‐Joon; Lee, Jeung Hee; Park, J.K.; Kim, M.H.; Cinn, Yong Woo; Cho, K.H.; Yoon, Tae Young

doi:10.1111/j.1365-2133.2007.08033.x

Cited by 57 publications

(42 citation statements)

References 25 publications

(69 reference statements)

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“…In the particular case of DFSP, the definitive diagnosis is usually established on the basis of routine histopathological and immunohistochemical features. Neoplastic cells usually express CD34 antigen and APOD1 and are negative for factor XIIIa, stromelysin III and D2-40 (Cribier et al, 2002;Kim et al, 2007;Bandarchi et al, 2010). In this neoplasm a pathogenic and specific translocation t(17;22)(q22;q13) (COL1A1/ PDGFB) has been well-characterized (Pedeutour et al, 1993(Pedeutour et al, , 1995(Pedeutour et al, , 1996Naeem et al, 1995).…”

Section: Comparison Between Rt-pcr and Fish Techniquesmentioning

confidence: 93%

Molecular diagnosis of dermatofibrosarcoma protuberans: A comparison between reverse transcriptase‐polymerase chain reaction and fluorescence in situ hybridization methodologies

Salgado

Llombart

Pujol

et al. 2011

Genes Chromosomes & Cancer

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Dermatofibrosarcoma protuberans (DFSP) is characterized by the presence of the t(17;22)(q22;q13) that leads to the fusion of the COL1A1 and PDGFB genes. This translocation can be detected by multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) or fluorescence in situ hybridization (FISH) techniques. We have evaluated the usefulness of a dual color dual fusion FISH probe strategy for COL1A1/PDGFB detection in a series of 103 archival DFSPs and compared the obtained results with RT-PCR analyses. FISH and RT-PCR were carried out on paraffin embedded tissue samples. Regarding the RT-PCR approach, all COL1A1 exons and exon 2 of PDGFB were evaluated. Sensitivity, specificity, positive and negative predictive values were assessed considering the histological diagnosis as the gold standard. We also analyzed the relationship between the genetic findings and the clinicopathological variables of the tumors. The COL1A1/PDGFB translocation was detected in 93% of DFSP. Both techniques showed a similar specificity (100%), but FISH was more sensitive than RT-PCR (90% vs. 72%). Regarding, clinicopathological features, a higher percentage of positive cells detected by FISH was significantly associated with the fibrosarcomatous DFSP variant (P < 0.001). Interestingly, all CD34 negative DFSP (n = 5) were positive for COL1A1/PDGFB translocation by both techniques. In conclusion, the majority of DFSP harbor the COL1A1/PDGFB translocation and FISH technique should be recommended as a routine diagnostic tool, especially in cases showing unusual histopathological subtypes and/or immunohistochemical features.

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Section: Comparison Between Rt-pcr and Fish Techniquesmentioning

confidence: 93%

Molecular diagnosis of dermatofibrosarcoma protuberans: A comparison between reverse transcriptase‐polymerase chain reaction and fluorescence in situ hybridization methodologies

Salgado

Llombart

Pujol

et al. 2011

Genes Chromosomes & Cancer

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“…In others studies, the sensitivity of this test varied from 84 to 100%. [26][27][28] The test was less successful in differentiating dermatofibrosarcoma protuberans from its main differential diagnoses, including 19 (63%) undifferentiated sarcomas, 6 (85%) myxofibrosarcomas, and 4 (100%) spindle cell lipomas stained positive for CD34. Kim et al 28 found CD34 to be a valuable stain for differentiating between dermatofibrosarcoma protuberans and dermatofibroma, and reported a specificity of 83%.…”

Section: Initial Diagnosismentioning

confidence: 99%

Fluorescence in situ hybridization analysis is a helpful test for the diagnosis of dermatofibrosarcoma protuberans

et al. 2015

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Cytogenetically, most dermatofibrosarcoma protuberans are characterized by chromosomal rearrangements resulting in the collagen type-1 alpha 1 (COL1A1)-platelet-derived growth factor b (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 ¼ 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.

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“…Immunohistochemical stains are required to differentiate dermatofibroma (DF), DFSP and other fibrous tumours. CD34, factor XIIIa, stromelysin-3 (ST3) and apolipoprotein D (Apo D) are some of the important stains used [7]. CD34 positivity is seen in most cases of DFSP.…”

Section: Discussionmentioning

confidence: 99%

Dermatofibrosarcoma Protuberance of the Breast: a Diagnostic Challenge

Burud

How²,

CheeWei

et al. 2016

Indian J Surg

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Dermatofibrosarcoma protuberans (DFSP) is an uncommon slow growing neoplasm of the dermis with tendency to invade the subcutaneous tissues. It presents during the third to fourth decade of life and is commonly seen over the trunk, extremities and head and neck. DFSP presenting as a breast lump is rare but few cases have been reported in the literature. Pre-operative diagnosis with mammography, ultrasonography and FNAC is challenging. We report a case of a DFSP of the right breast in a middle aged lady with history of recurrent breast lumps excised and diagnosed in the past as benign. She presented with progressively increasing right breast lump of 2 months duration. She underwent wide local excision and histology revealed dermatofibrosarcoma protuberans. In view of its local aggressiveness with incomplete surgical margin, mastectomy was performed.

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Stromelysin-3 expression in the differential diagnosis of dermatofibroma and dermatofibrosarcoma protuberans: comparison with factor XIIIa and CD34

Cited by 57 publications

References 25 publications

Molecular diagnosis of dermatofibrosarcoma protuberans: A comparison between reverse transcriptase‐polymerase chain reaction and fluorescence in situ hybridization methodologies

Molecular diagnosis of dermatofibrosarcoma protuberans: A comparison between reverse transcriptase‐polymerase chain reaction and fluorescence in situ hybridization methodologies

Fluorescence in situ hybridization analysis is a helpful test for the diagnosis of dermatofibrosarcoma protuberans

Dermatofibrosarcoma Protuberance of the Breast: a Diagnostic Challenge

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