Dermatofibrosarcoma Protuberans, Giant Cell Fibroblastoma, and Hybrid Lesions in Children: Clinicopathologic Comparative Analysis of 28 Cases With Molecular Data

Abstract

The clinicopathologic and immunohistochemical features of 28 dermatofibrosarcoma protuberans (DFSP), giant cell fibroblastomas (GCFs), and hybrid lesions occurring in children are presented, including molecular data for seven of them. There were 19 pure adult-type DFSP (9 male and 10 female patients aged between a few days [neonate] and 13 years, median 7 years), 5 pure GCF (all males aged from 2 to 8 years, median 4 years), and 4 hybrid tumors (all males aged from 1 to 4 years, median 2.5 years). Tumor locations in pure adult-type DFSP included the trunk (6) and lower (11) and upper (2) limbs. Pure GCFs were observed on the trunk (4) and knee (1), and hybrid lesions on the trunk (2) and lower (1) and upper (1) extremities. Tumor size (n = 20) ranged from 0.6 to 5 cm (median 2 cm). Histologically, pure DFSP presented as monotonous and infiltrative, low-grade, dermal/hypodermal storiform spindle cell proliferations, sparing adnexal structures. GCF showed a dense fibrous to myxoid matrix containing slender wavy spindle cells and multinucleated giant stromal cells often lining angiectoid spaces. Hybrid lesions showed varying combinations of DFSP and GCF areas. Mitotic activity ranged from 1 to 3 mitoses per 10 high power fields. All tumors were diffusely positive for vimentin and CD34 but negative for smooth muscle actin, desmin, epithelial membrane antigen, and cytokeratins; one pure adult-type DFSP was also S-100 protein positive; <1% of nuclei were Ki67 (Mib-1) positive. One karyotyped adult-type DFSP showed an unbalanced t(17;22) (q22;q13) translocation. Multiplex RT-PCR analysis and sequencing of PCR products in seven cases showed gene fusion transcripts in two pure DFSP, two pure GCFs, and one hybrid lesion. Results were uncertain in one pure GCF; one adult-type DFSP was negative. Treatment procedures were known for 27 patients, consisting of 16 wide excisions and 11 marginal excisions. Follow-up information on 15 widely excised tumors (median 24 months; range 5-144 months) showed no recurrence. Five of six marginally excised lesions with available follow up recurred 2 months to 6 years (median 2 years) after initial surgery; all but one were cured by wide reexcision. None of the tumors metastasized. In conclusion, this study emphasizes 1) the occurrence of adult-type DFSP in children, 2) the close relationship between DFSP and GCF clinically, histologically, and molecularly, 3) the excellent prognostic of these lesions if widely excised, and 4) the diagnostic usefulness of RT-PCR analyses in detecting the gene fusion transcripts resulting from the t(17;22) (q22;q13) in paraffin-embedded tissues.

Apolipoprotein D in CD34-positive and CD34-negative cutaneous neoplasms: a useful marker in differentiating superficial acral fibromyxoma from dermatofibrosarcoma protuberans

“…Our experience of Apo D expression in 60% of giant cell fibroblastomas, a rare pediatric tumor and one believed to be a variant of dermatofibrosarcoma protuberans, 17,18 is similar to that (67%) by West et al 7 Perhaps, the most significant finding in our study was the absence of Apo D expression in all of the cases of superficial acral fibromyxoma. Superficial acral fibromyxoma is a relatively uncommon, distinctive entity with a predilection for the fingers and toes of adults.…”

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

“…Detection of the COL1A1/PDGFB transcript varied from 74 to 96% (Maire et al, 2002;Gokden et al, 2003;Terrier-Lacombe et al, 2003;Llombart et al, 2009;Patel et al, 2008). In the present study, in which we include 63 cases previously published (Llombart et al, accepted for publication), we detected the COL1A1/PDGFB transcript in 80% of DFSP.…”

Pediatric Dermatofibrosarcoma Protuberans in Madrid, Spain: Multi‐institutional Outcomes

“…In our series, the lower extremities, trunk, upper extremities, buttocks, groin, and acral locations were equally affected. Clinical presentation in children is also similar to that observed in adults, usually starting as a slow-growing fibrous papule or plaque that, over the course of several years, develops superimposed multiple nodules that progress to the protuberant phase (6,22). DFSP with onset at birth or during childhood appears to be plaque-like more often than nodular (16).…”