Dermatofibrosarcoma protuberan is a maligant tumor with low malignancy. The major clinical manifestation is a hard nodule increasing slowly from skin surface, pale purple. Pathological feature as a wheel shape or a multilayer aligned fibroblast.
Dermatofibrosarcoma ; pathology ; Fibroblasts ; pathology ; Humans ; Skin Neoplasms ; pathology

OBJECTIVETo study the clinical, pathological and immunohistochemical features of giant cell fibroblastoma (GCF), with emphasis on its differential diagnosis and histogenesis.

METHODSSeven cases of GCF were investigated by light microscopy and immunohistochemistry.

RESULTSSix cases occurred in children, and one occurred in a 35 year-old adult (mean 9.4 years). Five were male and two were female. Clinically, all cases appeared as slowly growing painless nodules located in the dermis or subcutis of the trunk and extremities. Microscopically, the poorly circumscribed tumor was composed of a proliferation of slightly to moderately atypical spindle cells which were arranged in parallel or wavy fascicles, and embedded in a fibromyxoid to collagenous background. The pathognomonic feature consisted of irregular distributed cleft-like or sinusoid-like pseudovascular spaces lined with a discontinuous layer of pleomorphic spindle cells and multinucleate giant cells. There was transition in shape between these two cells. Immunohistochemially, both cells expressed vimentin and CD34. Follow-up information in five cases showed local recurrences in two cases.

CONCLUSIONS(1) GCF is a distinctive fibroblastic tumor of intermediate malignancy that occurs predominantly in children. Recognizing its clinical and pathological characteristics is important to avoid misdiagnosis with other lesions with similar features. (2) GCF shared clinical, immunohistochemical and cytogenetic features with its adult counterpart-dermatofibrosarcoma protuberans (DFSP). The additional coexistence of GCF and DFSP areas in some primary cases and the reciprocal transformation in recurrent tumors all suggest that they are two closely related entities, possibly representing two members of the CD34 positive dendritic neoplasms.

Adult ; Child ; Child, Preschool ; Dermatofibrosarcoma ; metabolism ; pathology ; Female ; Humans ; Immunohistochemistry ; Infant ; Male ; Skin Neoplasms ; metabolism ; pathology

Cell Differentiation ; Child ; Dermatofibrosarcoma ; metabolism ; pathology ; Diagnosis, Differential ; Humans ; Immunohistochemistry ; Infant ; Lipoblastoma ; metabolism ; pathology ; Liver Neoplasms ; metabolism ; pathology ; Mesenchymoma ; metabolism ; pathology ; Neoplasms, Germ Cell and Embryonal ; metabolism ; pathology ; Sarcoma ; metabolism ; pathology ; Skin Neoplasms ; metabolism ; pathology ; Soft Tissue Neoplasms ; metabolism ; pathology

Objective: To investigate the clinicopathological and cytogenetic features of cryptic COL1A1-PDGFB fusion dermatofibrosarcoma protuberans (CC-DFSP). Methods: Three cases of CC-DFSP diagnosed in West China Hospital, Sichuan University, Chengdu, China from January 2021 to September 2021 were studied. Immunohistochemistry for CD34 and other markers, fluorescence in situ hybridization (FISH) for PDGFB, COL1A1-PDGFB and COL1A1, next-generation sequencing (NGS), reverse-transcriptase polymerase chain reaction (RT-PCR) and Sanger sequencing were performed. Results: There were three cases of CC-DFSP, including two females and one male. The patients were 29, 44 and 32 years old, respectively. The sites were abdominal wall, caruncle and scapula. Microscopically, they were poorly circumscribed. The spindle cells of the tumors infiltrated into the whole dermis or subcutaneous tissues, typically arranging in a storiform pattern. Immunohistochemically, the neoplastic cells exhibited diffuse CD34 expression, but were negative for S-100, SMA, and Myogenin. Loss of H3K27me3 was not observed in the tumor cells. The Ki-67 index was 10%-15%. The 3 cases were all negative for PDGFB rearrangement and COL1A1-PDGFB fusion, whereas showing unbalanced rearrangement for COL1A1. Case 1 showed a COL1A1 (exon 31)-PDGFB (exon 2) fusion using NGS, which was further validated through RT-PCR and Sanger sequencing. All patients underwent extended surgical resection. Except for case 3 with recurrence 2 years after surgical resection, the other 2 cases showed no recurrence or metastasis during the follow-up. Conclusions: FISH has shown its validity for detecting PDGFB rearrangement and COL1A1-PDGFB fusion and widely applied in clinical detection. However, for cases with negative routine FISH screening that were highly suspicious for DFSPs, supplementary NGS or at least COL1A1 break-apart FISH screening could be helpful to identify cryptic COL1A1-PDGFB fusions or other variant fusions.
Female ; Humans ; Male ; Collagen Type I, alpha 1 Chain ; Dermatofibrosarcoma/pathology* ; In Situ Hybridization, Fluorescence ; Oncogene Proteins, Fusion/genetics* ; Proto-Oncogene Proteins c-sis/genetics* ; Skin Neoplasms/pathology* ; Adult

Classification ; methods ; Dermatofibrosarcoma ; classification ; pathology ; Gastrointestinal Stromal Tumors ; immunology ; pathology ; Hemangioendothelioma ; classification ; metabolism ; pathology ; Humans ; Neoplasms, Connective and Soft Tissue ; classification ; metabolism ; pathology ; Neurilemmoma ; pathology ; Rhabdomyosarcoma ; metabolism ; pathology ; Sclerosis ; World Health Organization

Actins ; metabolism ; Dermatofibrosarcoma ; classification ; pathology ; Desmin ; metabolism ; Head and Neck Neoplasms ; metabolism ; pathology ; Histiocytoma, Benign Fibrous ; classification ; metabolism ; pathology ; Histiocytoma, Malignant Fibrous ; classification ; metabolism ; pathology ; Humans ; Oncogene Proteins, Fusion ; metabolism ; Skin Neoplasms ; metabolism ; pathology ; Vimentin ; metabolism ; Xanthomatosis ; pathology

Adult ; Antigens, CD ; metabolism ; Antigens, CD34 ; metabolism ; Antigens, Differentiation, Myelomonocytic ; metabolism ; Dermatofibrosarcoma ; metabolism ; pathology ; surgery ; Diagnosis, Differential ; Female ; Fibroma ; metabolism ; pathology ; Humans ; Lipoma ; pathology ; Neurofibroma ; metabolism ; pathology ; Receptors, Cell Surface ; metabolism ; Skin Neoplasms ; metabolism ; pathology ; surgery

Cyclin E ; metabolism ; Dermatofibrosarcoma ; pathology ; Diagnosis, Differential ; Fibrosarcoma ; classification ; metabolism ; pathology ; Humans ; Ki-67 Antigen ; metabolism ; Liposarcoma ; pathology ; Myxoma ; pathology ; Myxosarcoma ; metabolism ; pathology ; Proliferating Cell Nuclear Antigen ; metabolism ; Proto-Oncogene Proteins p21(ras) ; metabolism

OBJECTIVETo study the clinicopathologic characteristics, immunophenotype and differential diagnosis of superficial acral fibromyxoma (SAF).

METHODSThe clinical, pathologic and immunohistochemical features of a case of SAF occurring in left middle finger was studied, with review of literature.

RESULTSThe patient was a 62-year-old male who presented with a solitary painful nodule located in the distal aspect of his left middle finger. The nodule lied close to the nail bed and deep to the underlying periosteum. Grossly, the tumor was poorly circumscribed, measured 2 cm in greatest dimension and had a greyish-white cut surface and rubbery consistency. On low-power examination, the tumor was centred in the dermis and displayed a vague lobular pattern. The tumor cells were spindled to stellate in shape and associated with myxoid matrix. Focal fascicular or loose storiform patterns were also noted. A delicate vascular network was identified in the myxoid stroma. Mast cells were readily observed. On high-power examination, the tumor cells were relatively bland-looking and showed at most a mild degree of nuclear atypia. Mitotic figures were rare and coagulative tumor necrosis was absent. Immunohistochemical study showed that the tumor cells were positive for vimentin, CD34 and CD99. Focal staining for CD10 was also demonstrated. Other immunomarkers including actins, desmin and epithelial membrane antigen were negative.

CONCLUSIONSSAF is a distinctive soft tissue tumor occurring mainly in the digits of adults. Awareness of this entity is helpful in distinguishing SAF from other myxoid soft tissue tumors occurring there. Complete excision with clear resection margins is the mainstay of treatment.

12E7 Antigen ; Antigens, CD ; metabolism ; Antigens, CD34 ; metabolism ; Cell Adhesion Molecules ; metabolism ; Dermatofibrosarcoma ; metabolism ; pathology ; Diagnosis, Differential ; Fibroma ; diagnostic imaging ; metabolism ; pathology ; surgery ; Fingers ; pathology ; Follow-Up Studies ; Ganglion Cysts ; metabolism ; pathology ; Humans ; Male ; Middle Aged ; Nerve Sheath Neoplasms ; metabolism ; pathology ; Radiography ; Skin Neoplasms ; metabolism ; pathology ; Soft Tissue Neoplasms ; diagnostic imaging ; metabolism ; pathology ; surgery ; Vimentin ; metabolism

OBJECTIVETo investigate the clinical pathological features of fibrosarcomatous dermatofibrosarcoma protuberans (FS-DFSP).

METHODSThe clinical history, histopathological features and immunohistochemical characteristics were analyzed in twelve cases of FS-DFSP from January 1997 to February 2011, and related literature were reviewed.

RESULTSAge of the patients (2 females, 10 males) at diagnosis ranged from 41 to 70 years (mean 53 years). Among the 12 cases of FS-DFSP, 9 cases aroused in recurrent ordinary DFSP. Histologically, FS areas in FS-DFSP were characterized by a fascicular and highly cellular histology, frequently showing a characteristic herringbone pattern. FS-DFSP showed diminishment of CD34 staining in FS areas. The labeling index of Ki-67 was much higher in the FS areas (10%-40%) than that in the conventional DFSP areas (2%-5%). All the patients were treated by operation with local excision or wide excision. Postoperative radiotherapy and chemotherapy was administered in two cases respectively. Follow-up information in 9 of 12 patients (9 to 86 months) revealed local recurrence in 6 patients. Distant metastases were seen in two patients. One patient was died in the follow up period.

CONCLUSIONSFS-DFSP is a rare and unique subtype of DFSP and is associated with significant elevated risk of both local and distance metastasis, usually followed by poor outcome. Compared to ordinary DFSP as a borderline neoplasm, FS-DFSP should be considered as a malignant tumor.

Adult ; Aged ; Antigens, CD34 ; metabolism ; Chemotherapy, Adjuvant ; Dermatofibrosarcoma ; metabolism ; pathology ; therapy ; Diagnosis, Differential ; Female ; Fibroma ; pathology ; Fibrosarcoma ; metabolism ; pathology ; therapy ; Follow-Up Studies ; Histiocytoma, Benign Fibrous ; metabolism ; pathology ; Histiocytoma, Malignant Fibrous ; pathology ; Humans ; Ki-67 Antigen ; metabolism ; Lung Neoplasms ; secondary ; Male ; Middle Aged ; Neoplasm Recurrence, Local ; Radiotherapy, Adjuvant ; Retrospective Studies ; Skin Neoplasms ; metabolism ; pathology ; therapy