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A Clinical, Histologic, and Molecular Study of 9 Cases of Congenital Dermatofibrosarcoma Protuberans

Georges Maire, PhD; Sylvie Fraitag, MD; Louise Galmiche, MD; Frédérique Keslair, BSc; Nathalie Ebran, PhD; Marie-José Terrier-Lacombe, MD; Yves de Prost, MD; Florence Pedeutour, PharmD, PhD
Arch Dermatol. 2007;143(2):203-210. doi:10.1001/archderm.143.2.203.
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ABSTRACT

Background  The diagnosis of dermatofibrosarcoma protuberans (DFSP) in childhood is often difficult because of the deceptive appearance of the lesions. Little is known about congenital DFSP, the frequency of which is probably underestimated because the initial lesion may pass unnoticed.

Observations  We studied 9 DFSP congenital cases (8 plaques and 1 nodule) initially suspected to be benign lesions. The first biopsies or excisions were performed after a delay of 5½ months to 15 years. All cases were CD34+. Histologic patterns were similar to the DFSP adult classic pattern in 4 cases. One case was a Bednar tumor. The histologic diagnosis of the 4 remaining cases was difficult. The collagen, type I, α 1–platelet-derived growth factor β fusion gene (COL1A1-PDGFB) was detected by means of reverse transcriptase–polymerase chain reaction or fluorescence in situ hybridization.

Conclusions  All cases of congenital DFSP were difficult to identify clinically. The diagnosis was suspected by means of histologic and immunohistochemical evaluation and was confirmed using molecular analyses. This study illustrates the difficulties and pitfalls of the recognition of congenital DFSP and emphasizes the value of immunohistochemical study with anti-CD34 and complementary molecular analysis for all cutaneous spindle cell tumors and plaques in neonates and infants.

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Figure 4.

Case 2. Dermatofibrosarcoma protuberans with peculiar histologic features. Loose dermal proliferation badly limited and extending in the upper subcutis (hematoxylin-eosin, original magnification ×25).

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Figure 3.

Case 6. Dermatofibrosarcoma protuberans with peculiar histologic features. A, Indurated angiomatous plaque of the limb. B, Typical spindle cell proliferation in the subcutis (these spindle cells were positive when labeled with anti–CD34 antibodies [not shown]) (hematoxylin-eosin, original magnification ×100). C, Nodules of round cells in the deep dermis surrounding numerous capillaries (hematoxylin-eosin, original magnification ×100). D, Fluorescence in situ hybridization on dissociated cells from the biopsy sample showed separate green (collagen, type I, α 1 [COL1A1] probe) and red (platelet-derived growth factor β polypeptide [PDGFB] probe) signals on a cell nucleus. This pattern of signals demonstrates the absence of the COL1A1-PDGFB rearrangement.

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Figure 2.

Case 4. A, Pinkish plaque with 6 cm of alopecia. The lesion was firm and fibrous. B, Thin biopsy specimen of the recurrence revealed the presence of a discrete proliferation of regular spindle-shaped cells in the deep dermis. Cellular density is slight and is associated with an abundant collagen matrix (hematoxylin-eosin, original magnification ×25). C, Strong and diffuse expression of CD34 by tumor cells (labeling with anti-CA34 antibody, original magnification ×25). D, Fluorescence in situ hybridization analysis on formalin-fixed, paraffin-embedded sections from the biopsy sample. Arrow indicates the merged green-red signal corresponding to the collagen, type I, α 1–platelet-derived growth factor β (COL1A1-PDGFB) fusion gene in a tumor cell nucleus (hematoxylin-eosin, original magnification ×100). E, Sequence of the COL1A1-PDGFB fusion gene detected by means of reverse transcriptase–polymerase chain reaction, showing an in-frame fusion of COL1A exon 32 (bold) with PDGFB exon 2. Total RNA was extracted from the formalin-fixed, paraffin-embedded biopsy fragment.

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Figure 1.

Case 3. A, Small nodules arising on a hypopigmented congenital plaque on the back of an 11-year-old boy. B, A characteristic histologic dermatofibrosarcoma protuberans pattern (hematoxylin-eosin, original magnification ×200). C, Partial RHG tumor cell karyotype showing 2 normal chromosomes 17 and 1 chromosome 22. Arrows indicate 2 abnormal chromosomes 22 derived from an unbalanced t(17;22). D, Interphase fluorescence in situ hybridization. Arrows indicate the merged green-red signal corresponding to the collagen, type I, α 1–platelet-derived growth factor β (COL1A1-PDGFB) fusion gene on the 2 abnormal chromosomes 22. The individual green and red signals correspond to COL1A1 on the 2 normal chromosomes 17 and PDGFB on the normal chromosome 22. E, Sequence of the COL1A1-PDGFB fusion gene detected by means of reverse transcriptase–polymerase chain reaction, showing an in-frame fusion of COL1A1 exon 48 (bold) with PDGFB exon 2.

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