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Background

This rare soft tissue tumor has a peculiar association with another rare sarcoma, the dermatofibrosarcoma protuberans. Indeed, there is increasing evidence that the tumors form part of a histological and clinical continuum.

OUTLINE

Epidemiology  
Disease Associations  
Pathogenesis  
Laboratory/Radiologic/
Other Diagnostic Testing
 
Gross Appearance and Clinical Variants  
Histopathological Features and Variants  
Special Stains/
Immunohistochemistry/
Electron Microscopy
 
Differential Diagnosis  
Prognosis  
Treatment  
Commonly Used Terms  
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PATHOGENESIS CHARACTERIZATION
RELATIONSHIP TO DERMATO-FIBROSARCOMA PROTUBERANS  
Dermatofibrosarcoma protuberans, giant cell fibroblastoma, and hybrid lesions in children: clinicopathologic comparative analysis of 28 cases with molecular data--a study from the French Federation of Cancer Centers Sarcoma Group.

Terrier-Lacombe MJ, Guillou L, Maire G, Terrier P, Vince DR, de Saint Aubain Somerhausen N, Collin F, Pedeutour F, Coindre JM.

Department of Pathology, Gustave Roussy Institute, Villejuif, France.


Am J Surg Pathol. 2003 Jan;27(1):27-39. Abstract quote  

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.
Cytogenetic and immunohistochemical evidence that giant cell fibroblastoma is related to dermatofibrosarcoma protuberans

Genes Chromosomes Cancer 1996;15:735.

Show rearrangements of chromosomes 17 and 22


Dermatofibrosarcoma protuberans, giant cell fibroblastoma, and hybrid lesions in children: clinicopathologic comparative analysis of 28 cases with molecular data: a study from the French Federation of cancer centers sarcoma group.

Terrier-Lacombe MJ, Guillou L, Maire G, Terrier P, Vince DR, De Saint Aubain Somerhausen N, Collin F, Pedeutour F, Coindre JM.

Am J Surg Pathol 2003 Jan;27(1):27-39 Abstract quote

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.



CLINICAL VARIANTS CHARACTERIZATION
BREAST  
Giant cell fibroblastoma of the breast in a child--a case report and review of the literature.

Soto L, Jie T, Saltzman DA.

Section of Pediatric Surgery, Department of Surgery, University of Minnesota, Minneapolis, MN, USA
J Pediatr Surg. 2004 Feb;39(2):229-30. Abstract quote  

A case report and review of the literature are reported for giant cell fibroblastoma of the breast in a child. This is the first reported case of a congenital occurrence of this tumor type (giant cell fibroblastoma).

 

HISTOLOGICAL TYPES CHARACTERIZATION
General

Spindle cell tumor with angiectoid or sinusoidal areas

Scattered giant cells

Solid, often mucoid, nodular mass in which pseudovascular spaces apparently result from diminished intercellular cohesion

Fine-Needle Aspiration Biopsy Features in a Case of Giant Cell Fibroblastoma of the Chest Wall

Anirban Maitra, MD, Charles F. Timmons, MD, PhD, Momin T. Siddiqui, MD, and M. Hossein Saboorian, MD

From the Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Tex (Drs Maitra, Timmons, Siddiqui, and Saboorian); and Children's Medical Center, Dallas, Tex (Drs Maitra and Timmons).

Arch Pathol Lab Med 2001;125:10911094. Abstract quote

Giant cell fibroblastoma is an unusual tumor of childhood, primarily occurring in the superficial soft tissues.

We describe the fine-needle aspiration biopsy features of a case of giant cell fibroblastoma of the chest wall in a 3-year-old child. The aspirates comprised bland spindle to oval cells entrapped in a metachromatic matrix, accompanied by rare multinucleated giant cells with wreathlike nuclei. Although we were unable to render a definitive diagnosis on fine-needle aspiration biopsy, surgical resection of the mass established the diagnosis of giant cell fibroblastoma.

We review the distinctive cytologic features of some common soft tissue tumors arising in this age group that may give rise to a diagnostic conundrum on fine-needle aspiration biopsy.

VARIANTS  
DFSP ASSOCIATED  
Giant cell fibroblastoma recurring as dermatofibrosarcoma protuberans

Am J Surg Pathol 1991;15:798801

Further emphasizes the close relationship with DFSP


Giant cell fibroblastoma: a report of three cases with histologic and immunohistochemical evidence of a relationship to dermatofibrosarcoma protuberans.

Goldblum JR.

Department of Anatomic Pathology, The Cleveland (Ohio) Clinic Foundation, 44195, USA.

Arch Pathol Lab Med 1996 Nov;120(11):1052-5 Abstract quote

PROBLEM CONSIDERED: Giant cell fibroblastoma (GCF) is a rare mesenchymal neoplasm, which is classified as a fibrohistiocytic tumor of intermediate malignancy owing to its propensity for local recurrence, although metastasis has not been documented. Prior reports have linked GCF to dermatofibrosarcoma protuberans (DFSP), given overlapping clinical and histologic features.

METHODS: This report documents three additional cases of GCF that further support the contention that this lesion is histogenetically related to DFSP.

RESULTS: All three lesions occurred on the trunk of patients whose ages were 4, 28, and 38 years. One case that histologically resembled a GCF on initial excision recurred with areas of both GCF and DFSP. A second recurrence was composed entirely of DFSP. Another case contained areas of both GCF and DFSP, as well as a focus that was felt to be undergoing fibrosarcomatous change. The third case consisted entirely of GCF. Immunohistochemically, all three lesions showed intense immunoreactivity for CD34 in the GCF component. CD34 also strongly marked the cells in those cases with a DFSP component.

CONCLUSIONS: Although GCF may not represent the "juvenile form" of DFSP, as previously suggested, the evidence strongly supports a histogenetic relationship between these two lesions, even though the cell of origin remains obscure.

 

SPECIAL STAINS/
IMMUNOPEROXIDASE/
OTHER
CHARACTERIZATION
Immunoperoxidase CD34 positive both within spindle cells and giant cells

Giant cell fibroblastoma: an immunohistochemical study.

Barr RJ, Young EM Jr, Liao SY.

J Cutan Pathol 1986 Aug;13(4):301-7 Abstract quote

Giant cell fibroblastoma is a rare, benign soft tissue tumor occurring in childhood. A 34-year-old woman presented with a giant cell fibroblastoma involving the chest wall.

Histologic features include an infiltrating spindle-cell tumor involving the dermis and subcutaneous fat containing characteristic sinusoidal spaces rimmed by spindle cells and multinucleate giant cells. Immunohistochemical studies support a fibrohistiocytic differentiation.


Henry JB. Clinical Diagnosis and Management by Laboratory Methods. Twentieth Edition. WB Saunders. 2001.
Rosai J. Ackerman's Surgical Pathology. Ninth Edition. Mosby 2004.
Sternberg S. Diagnostic Surgical Pathology. Fourth Edition. Lipincott Williams and Wilkins 2004.
Robbins Pathologic Basis of Disease. Seventh Edition. WB Saunders 2005.
DeMay RM. The Art and Science of Cytopathology. Volume 1 and 2. ASCP Press. 1996.
Weedon D. Weedon's Skin Pathology Second Edition. Churchill Livingstone. 2002
Fitzpatrick's Dermatology in General Medicine. 6th Edition. McGraw-Hill. 2003.
Weiss SW and Goldblum JR. Enzinger and Weiss's Soft Tissue Tumors. Fourth Edition. Mosby 2001.

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Last Updated February 3, 2006

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