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Atrophic dermatofibrosarcoma protuberans: report of a case demonstrated by detecting COL1A1-PDGFB rearrangement.

Qiao J, Patel KU, López-Terrada D, Fang H - Diagn Pathol (2012)

Bottom Line: Dermatofibrosarcoma protuberans is a locally aggressive mesenchymal neoplasm.It usually presents as an indurated plaque that protrudes above the surface of the skin.The lesion was totally excised, with negative margins of the resection demonstrated by CD34 immunostaining.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Dermatology, The First Affiliated Hospital, College of Medicine, Zhejiang University, No 79, Qingchun Road, Hangzhou 310003, People's Republic of China.

ABSTRACT

Unlabelled: Dermatofibrosarcoma protuberans is a locally aggressive mesenchymal neoplasm. It usually presents as an indurated plaque that protrudes above the surface of the skin. Some patients have clinically persistent plaques that might be atrophic. The atrophic variant of dermatofibrosarcoma protuberans may be confused with some common skin diseases with atrophic appearance. We reported a 40-year-old woman who had a 10-year history of an atrophic dermatofibrosarcoma protuberans. Molecular analysis showed a fusion between COL1A1 exon 31 to exon 2 of PDGFB. The lesion was totally excised, with negative margins of the resection demonstrated by CD34 immunostaining. To our knowledge, this is the second case of atrophic dermatofibrosarcoma protuberans confirmed by detection of COL1A1-PDGFB fusion gene. This appears to be the first report of a fusion between COL1A1 exon 31 to exon 2 of PDGFB in atrophic dermatofibrosarcoma protuberans.

Virtual slides: The virtual slides for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1249657688795311.

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(A) Biopsy revealed a monomorphic spindle cell proliferation in the dermis and subcutaneous fat, with the spindle cells aligned horizontally to the epidermis section (hematoxylin-eosin, original magnification: ×100). (B) The nuclei of the spindle cells were thin, elongated and often wavy, with little pleomorphism (hematoxylin-eosin, original magnification: ×400).
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Figure 2: (A) Biopsy revealed a monomorphic spindle cell proliferation in the dermis and subcutaneous fat, with the spindle cells aligned horizontally to the epidermis section (hematoxylin-eosin, original magnification: ×100). (B) The nuclei of the spindle cells were thin, elongated and often wavy, with little pleomorphism (hematoxylin-eosin, original magnification: ×400).

Mentions: In Apr 2010, a 40-year-old Chinese woman presented to our department of dermatology with a 10-year history of an asymptomatic, slowly enlarging rash located on the right pars lumbalis. She was otherwise healthy and had no systemic symptoms. The patient had no personal or family history of cancer. There was no history of trauma to the area. Physical examination showed a smooth-surfaced, round, depressed plaque on the right lumbalis area (Figure1). On palpation the rash was atrophic with no induration. Clinical diagnoses of morphea and morpheaform basal cell carcinoma were suspected. The lesion was totally excised. Histopathology examination revealed extensive areas of tumor cell growth in the dermis and subcutaneous tissue. The tumor was infiltrating the surrounding tissue and had poorly defined margins. The tumor was composed of monomorphic spindle cells that aligned horizontally to the epidermis (Figure2A). The nuclei were thin, elongated and often wavy, with little pleomorphism (Figure2B). The tumor tissue contained no mucin and melanins. The spindle cells were immunohistochemically positive for CD34 (Figure3) and vimentin, and negative for factor XIIIa, smooth muscle actin, and CD68. The surgical margins were negative demonstrated by CD34 immunostaining. RNA was extracted from the formalin-fixed, paraffin embedded surgical specimen for COL1A1/PDGFB chimeric transcripts analysis, by multiplex reverse transcription polymerase chain reaction (RT-PCR) assay. Sequencing of the multiplex RT-PCR amplification product revealed a fusion of exon 31 of COL1A1, to exon 2 of PDGFB (Figure4). A diagnosis of atrophic dermatofibrosarcoma protuberans was established. The patient remains without evidence of local recurrence after 2 years of follow-up.


Atrophic dermatofibrosarcoma protuberans: report of a case demonstrated by detecting COL1A1-PDGFB rearrangement.

Qiao J, Patel KU, López-Terrada D, Fang H - Diagn Pathol (2012)

(A) Biopsy revealed a monomorphic spindle cell proliferation in the dermis and subcutaneous fat, with the spindle cells aligned horizontally to the epidermis section (hematoxylin-eosin, original magnification: ×100). (B) The nuclei of the spindle cells were thin, elongated and often wavy, with little pleomorphism (hematoxylin-eosin, original magnification: ×400).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3539889&req=5

Figure 2: (A) Biopsy revealed a monomorphic spindle cell proliferation in the dermis and subcutaneous fat, with the spindle cells aligned horizontally to the epidermis section (hematoxylin-eosin, original magnification: ×100). (B) The nuclei of the spindle cells were thin, elongated and often wavy, with little pleomorphism (hematoxylin-eosin, original magnification: ×400).
Mentions: In Apr 2010, a 40-year-old Chinese woman presented to our department of dermatology with a 10-year history of an asymptomatic, slowly enlarging rash located on the right pars lumbalis. She was otherwise healthy and had no systemic symptoms. The patient had no personal or family history of cancer. There was no history of trauma to the area. Physical examination showed a smooth-surfaced, round, depressed plaque on the right lumbalis area (Figure1). On palpation the rash was atrophic with no induration. Clinical diagnoses of morphea and morpheaform basal cell carcinoma were suspected. The lesion was totally excised. Histopathology examination revealed extensive areas of tumor cell growth in the dermis and subcutaneous tissue. The tumor was infiltrating the surrounding tissue and had poorly defined margins. The tumor was composed of monomorphic spindle cells that aligned horizontally to the epidermis (Figure2A). The nuclei were thin, elongated and often wavy, with little pleomorphism (Figure2B). The tumor tissue contained no mucin and melanins. The spindle cells were immunohistochemically positive for CD34 (Figure3) and vimentin, and negative for factor XIIIa, smooth muscle actin, and CD68. The surgical margins were negative demonstrated by CD34 immunostaining. RNA was extracted from the formalin-fixed, paraffin embedded surgical specimen for COL1A1/PDGFB chimeric transcripts analysis, by multiplex reverse transcription polymerase chain reaction (RT-PCR) assay. Sequencing of the multiplex RT-PCR amplification product revealed a fusion of exon 31 of COL1A1, to exon 2 of PDGFB (Figure4). A diagnosis of atrophic dermatofibrosarcoma protuberans was established. The patient remains without evidence of local recurrence after 2 years of follow-up.

Bottom Line: Dermatofibrosarcoma protuberans is a locally aggressive mesenchymal neoplasm.It usually presents as an indurated plaque that protrudes above the surface of the skin.The lesion was totally excised, with negative margins of the resection demonstrated by CD34 immunostaining.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Dermatology, The First Affiliated Hospital, College of Medicine, Zhejiang University, No 79, Qingchun Road, Hangzhou 310003, People's Republic of China.

ABSTRACT

Unlabelled: Dermatofibrosarcoma protuberans is a locally aggressive mesenchymal neoplasm. It usually presents as an indurated plaque that protrudes above the surface of the skin. Some patients have clinically persistent plaques that might be atrophic. The atrophic variant of dermatofibrosarcoma protuberans may be confused with some common skin diseases with atrophic appearance. We reported a 40-year-old woman who had a 10-year history of an atrophic dermatofibrosarcoma protuberans. Molecular analysis showed a fusion between COL1A1 exon 31 to exon 2 of PDGFB. The lesion was totally excised, with negative margins of the resection demonstrated by CD34 immunostaining. To our knowledge, this is the second case of atrophic dermatofibrosarcoma protuberans confirmed by detection of COL1A1-PDGFB fusion gene. This appears to be the first report of a fusion between COL1A1 exon 31 to exon 2 of PDGFB in atrophic dermatofibrosarcoma protuberans.

Virtual slides: The virtual slides for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1249657688795311.

Show MeSH
Related in: MedlinePlus