BACKGROUND Dermatofibrosarcoma protuberans(DFSP)is a rare,low-grade,locally aggressive cutaneous sarcoma.DFSP in the periocular region is exceedingly rare,leading to diagnostic and surgical challenges due to anatomica...BACKGROUND Dermatofibrosarcoma protuberans(DFSP)is a rare,low-grade,locally aggressive cutaneous sarcoma.DFSP in the periocular region is exceedingly rare,leading to diagnostic and surgical challenges due to anatomical constraints in the periocular region.Precise diagnosis is essential to guide appropriate surgical management and prevent recurrence.CASE SUMMARY A 32-year-old female presented with a recurrent tumor in the medial canthus,previously diagnosed as a solitary fibrous tumor in an outside institution.After complete radiological and systemic workup,she was scheduled for a wide local excision followed by reconstruction after getting tumor clear margins on frozen section.Histopathology confirmed DFSP,characterized by storiform spindle cell proliferation,diffuse cluster of differentiation 34 positivity,and signal transducer and activator of transcription 6 negativity.CONCLUSION This case highlights the challenges in the diagnostic and surgical management of DFSP in periocular tumors.Comprehensive surgical excision with appropriate reconstruction is critical for achieving oncological control while preserving aesthetics and function.展开更多
Dermatofibrosarcoma protuberans(DFSP)is a rare cutaneous intermediate-grade soft tissue tumor characterized by COL1A1::PDGFB fusion in most cases.This fusion drives tumorigenesis and forms the basis for imatinib treat...Dermatofibrosarcoma protuberans(DFSP)is a rare cutaneous intermediate-grade soft tissue tumor characterized by COL1A1::PDGFB fusion in most cases.This fusion drives tumorigenesis and forms the basis for imatinib treatment,which acts by blocking platelet-derived growth factor receptor-beta kinase activity.Apart from this canonical fusion,there is an expanding spectrum of rare fusions,including COL6A3::PDGFD,EMILIN::PDGFD,TNC::PDGFD,etc.,through mole-cular profiling.These atypical rearrangements may be encountered in morpho-logically classic DFSP,unusual anatomic sites,or diagnostically challenging variants such as fibrosarcomatous DFSP.Their recognition is clinically relevant,as they may influence tumor biology,response to targeted therapy,and eligibility for clinical trials.This newly documented DFSP involving the lacrimal sac was initially misdiagnosed as a solitary fibrous tumor,emphasizing the diagnostic pitfalls in anatomically constrained regions and the importance of integrated diagnosis combining histology,immunohistochemistry,and molecular testing.In this editorial commentary,we briefly highlight the ever-growing genomic land-scape of DFSP,report rare fusions and their biological implications,and examine the role of expanded molecular diagnostics in refining diagnosis,guiding therapy,and informing prognosis.Incorporating comprehensive fusion analysis into routine workup may be critical for accurate classification,especially in unusual presentations where reliance on morphology alone risks misdiagnosis.展开更多
BACKGROUND Dermatofibrosarcoma protuberans(DFSP)is a rare low-grade malignant soft tissue tumor characterized by rosette-like infiltrative growth.Postoperative recurrence of this tumor is very common.AIM To evaluate t...BACKGROUND Dermatofibrosarcoma protuberans(DFSP)is a rare low-grade malignant soft tissue tumor characterized by rosette-like infiltrative growth.Postoperative recurrence of this tumor is very common.AIM To evaluate the risk factors related to recurrence after wide local excision(WLE)of DFSP and to guide clinical diagnosis and treatment.METHODS The medical records of 44 DFSP patients confirmed by pathology at our hospital from 2012 to 2019 were retrospectively reviewed.The relationship between clinical features,tumor characteristics,treatment,and recurrence risk were analyzed,and the possible risk factors for postoperative tumor recurrence were evaluated.RESULTS There were 44 patients in total,including 21 males and 23 females.The median progression free survival was 36 mo(range,1-240 mo).Twenty patients were treated for the first time,while 24 had previous treatment experience.Forty-two cases were followed for 25.76±22.0 mo,among whom four(9.52%)experienced recurrence after WLE(rate was 9.52%).The recurrence rate in the recurrent group was higher than that in the patients with primary tumor(19.05%vs 0%,P=0.028).Eighteen cases had a history of misdiagnosis(rate was 40.91%).The recurrence rate among patients with previous experience of misdiagnosis was significantly higher than in patients without(68%vs 36.84%,P=0.04).The tumor diameter in patients with a history of treatment was larger than in patients treated for the first time(4.75±0.70 cm vs 2.25±0.36 cm,P=0.004).CONCLUSION To sum up,the clinical manifestations of DFSP are not specific and are easily misdiagnosed,thus commonly causing the recurrence of DFSP.After incomplete resection,the tumor may rapidly grow.Previous recurrence history may be a risk factor for postoperative recurrence,and tumor location may have an indirect effect on postoperative recurrence;however,we found no significant correlation between sex,age,course of the disease,or tumor size and postoperative recurrence.展开更多
Dermatofibrosarcoma protuberans(DFSP), the most common dermal sarcoma, is a low-grade, slow growing fibroblastic malignant neoplasm that most frequently affects middle aged adults and is characterized by a high local ...Dermatofibrosarcoma protuberans(DFSP), the most common dermal sarcoma, is a low-grade, slow growing fibroblastic malignant neoplasm that most frequently affects middle aged adults and is characterized by a high local recurrence rate and a low propensity for metastasis. Wide surgical resection or Mohs micrographic surgery(MMS) are the preferred approaches for localized disease, while radiation therapy is warranted for inoperable disease or for cases with positive margins where re-excision is not possible. DFSP is generally regarded as refractory to conventional chemotherapy. Treatment options for systemic disease were limited until the discovery of a unique translocation, t(17;22)(q22;q13)(COL1A1;PDGFB) found in a majority of cases. In recent years, imatinib, a PDGFβR, ABL and KIT inhibitor, has revolutionized systemic therapy in DFSP. In this review, we summarize the epidemiological, clinical, histological and genetic characteristics of DFSP and update the readers on its current management.展开更多
Objective:To study treatment and prognostic factor in 74 patients with dermatofibrosarcoma protuberans.Meth-ods:From August 1990 to November 1999,74 patients with dermatofibrosarcoma protuberans(DFSP)confirmed by path...Objective:To study treatment and prognostic factor in 74 patients with dermatofibrosarcoma protuberans.Meth-ods:From August 1990 to November 1999,74 patients with dermatofibrosarcoma protuberans(DFSP)confirmed by pathology were treated in Cancer Hospital of Sun Yat-sen University.72 cases were given wide excision and 2 cases were given local exci-sion.All of 74 cases,52 cases had surgical resection alone,and 22 cases had surgical resection combined with radiotherapy.Total dose of radiotherapy was 50-70 Gy.Results:The rate of recurrence was 36.1% for all patients.The 5-year recurrence-free survival(RFS)rate was 66%.The 5-year recurrence-free survival rates for resection alone and combined with radiotherapy were 58% and 90%,respectively(P=0.0187).The 5-year recurrence-free survival rates for positive microscopic margins and negative microscopic margins were 57% and 75%,respectively(P=0.0468).Conclusion:Post-operation radiotherapy is an effective treatment to decrease the recurrence rate for the patients with positive microscope,or the patients without suitable surgical treatment.展开更多
<strong>Background:</strong> Dermatofibrosarcoma protuberans (DFSP) is rare soft tissue sarcoma but has a locally aggressive nature. Although most cases are of low grade and have a rare metastasis rate, al...<strong>Background:</strong> Dermatofibrosarcoma protuberans (DFSP) is rare soft tissue sarcoma but has a locally aggressive nature. Although most cases are of low grade and have a rare metastasis rate, all DFSP variants have a tendency to show local recurrence. Wide excision with negative margins is the treatment of choice. <strong>Aim:</strong> To report a case of DFSP who presented with an asymptomatic slow growing tumor similar to etiologies such as hypertrophic scars or other benign soft tissue tumors. <strong>Case Presentation:</strong> A 68-year-old male presented with a large soft tumor located at the left posterior neck. Local excision was done under the preoperative impression of a benign tumor such as lipoma or sebaceous cyst. However the diagnosis of DFSP was made upon histological examination and the patient underwent another surgery to achieve free resection margins under general anesthesia as well as adjuvant radiotherapy. <strong>Conclusion:</strong> DFSP is a malignant tumor that is diagnosed histopathologically. Due to the low incidence rate, slow-growing nature, and non-alarming initial presentation features, diagnostic delay or even misdiagnosis is not uncommon.展开更多
A 49-year-old woman was referred to the Department of Plastic and Breast Surgery under suspicion of breast cancer after a mammogram revealed a self-discovered tumor in the lower part of her left breast. Clinical exami...A 49-year-old woman was referred to the Department of Plastic and Breast Surgery under suspicion of breast cancer after a mammogram revealed a self-discovered tumor in the lower part of her left breast. Clinical examination, mammography, and histopathological examination revealed that the original tumor in the left breast was benign, and an incidental malignant tumor, a dermatofibrosarcoma protuberans (DFSP), was found in the contralateral breast. DFSP is a rare and highly malignant entity that is often silent and difficult to diagnose, making a biopsy essential. Surgical treatment must be aggressive due to the high risk of recurrence, which constitutes a technical challenge. The patient underwent surgery using an oncoplastic approach with a volume-reducing technique to achieve the best possible therapeutic and aesthetic results. Therapeutic breast reduction was performed on the right breast and the tumor was removed within the resected tissue. A contralateral symmetrizing mammoplasty was also performed simultaneously. The patient was discharged without major complications, and no recurrence of the tumor was seen during the 30-month follow-up period. The surgical approach included alternative solutions in addition to conventional lumpectomy or mastectomy. A multidisciplinary, open-minded, and creative approach resulted in a satisfying outcome for this patient.展开更多
Background:Dermatofibrosarcoma protuberans(DFSP)is an uncommon cutaneous sarcoma that infrequently involves the head and face.Despite its low incidence,the complex anatomical subunits of this region and frequent misdi...Background:Dermatofibrosarcoma protuberans(DFSP)is an uncommon cutaneous sarcoma that infrequently involves the head and face.Despite its low incidence,the complex anatomical subunits of this region and frequent misdiagnosis can result in functional impairment and challenging reconstruction.However,the distribution characteristics of DFSP in the head and face have not yet been systematically evaluated.This study aimed to characterize the distribution of DFSP in the head and face to provide guidance for clinical diagnosis.Methods:We retrospectively reviewed patients who underwent treatment for DFSP involving the head and face at our hospital.The associations between tumor location and patient characteristics—including sex,age,tumor size,history of trauma,and histopathological features—were systematically analyzed.Results:Among the 161 cases,26(16.1%)involved DFSP of the head and face.The highest tumor frequency was observed in the cheek region(65.38%).Patients with DFSP located in the cheek were older than those with DFSP in non-cheek regions(48.82 vs.37.22 years,P=0.04).Histologically,among the 26 cases,23 were classic DFSP and 3 were fibrosarcomatous dermatofibrosarcoma protuberans(FS-DFSP),a more aggressive histologic subtype.The proportion of FS-DFSP was lower in the cheek region than in non-cheek areas(0 vs.3,P=0.032).Conclusion:DFSP of the head and face demonstrated a predilection for the cheek region.Recognition of this distribution pattern may assist dermatologists in the clinical assessment and management of patients,particularly for lesions involving the cheeks.展开更多
Dermatofibrosarcoma protuberans （DFSP） is a poorly differentiated interstitial tumor that originates from the dermis. It occurs predominantly in the 20-50-year- old males. DFSP generally presents as local pink plaqu...Dermatofibrosarcoma protuberans （DFSP） is a poorly differentiated interstitial tumor that originates from the dermis. It occurs predominantly in the 20-50-year- old males. DFSP generally presents as local pink plaques or nodules and subsequently develops into nodular masses accompanied by infiltrative growth to the surrounding tissue, including muscle and bone.展开更多
Surgical resection of soft tissue sarcoma of the trunk can result in large defects requiring complex reconstruction for coverage of vital neurovascular structures and tissue defect. Large defects of the back could be ...Surgical resection of soft tissue sarcoma of the trunk can result in large defects requiring complex reconstruction for coverage of vital neurovascular structures and tissue defect. Large defects of the back could be reconstructed with multiple random pattern or local pedicled flaps. We present the case of a 48-year-old patient with a locally advanced dermatofibrosarcoma protuberans of the back. Wide local excision of the lesion was performed. The soft tissue defect measured 22 cm × 20 cm × 4 cm and was reconstructed with bilateral reverse latissimus dorsi myocutaneous (RLDM) flap. Each RLDM flap measured 24 cm × 10 cm. The donor site on the back was closed directly on both sides. The patient recovered well and the two flaps healed uneventfully. Twelve months after surgery the patient is disease-free. The use of a RLDM flap in mid-back reconstructions provided wide well-vascularized soft tissue, minimized risk of infection, and maximized back coverage. This flap is an excellent choice for reconstruction of large defects of the mid-back.展开更多
文摘BACKGROUND Dermatofibrosarcoma protuberans(DFSP)is a rare,low-grade,locally aggressive cutaneous sarcoma.DFSP in the periocular region is exceedingly rare,leading to diagnostic and surgical challenges due to anatomical constraints in the periocular region.Precise diagnosis is essential to guide appropriate surgical management and prevent recurrence.CASE SUMMARY A 32-year-old female presented with a recurrent tumor in the medial canthus,previously diagnosed as a solitary fibrous tumor in an outside institution.After complete radiological and systemic workup,she was scheduled for a wide local excision followed by reconstruction after getting tumor clear margins on frozen section.Histopathology confirmed DFSP,characterized by storiform spindle cell proliferation,diffuse cluster of differentiation 34 positivity,and signal transducer and activator of transcription 6 negativity.CONCLUSION This case highlights the challenges in the diagnostic and surgical management of DFSP in periocular tumors.Comprehensive surgical excision with appropriate reconstruction is critical for achieving oncological control while preserving aesthetics and function.
文摘Dermatofibrosarcoma protuberans(DFSP)is a rare cutaneous intermediate-grade soft tissue tumor characterized by COL1A1::PDGFB fusion in most cases.This fusion drives tumorigenesis and forms the basis for imatinib treatment,which acts by blocking platelet-derived growth factor receptor-beta kinase activity.Apart from this canonical fusion,there is an expanding spectrum of rare fusions,including COL6A3::PDGFD,EMILIN::PDGFD,TNC::PDGFD,etc.,through mole-cular profiling.These atypical rearrangements may be encountered in morpho-logically classic DFSP,unusual anatomic sites,or diagnostically challenging variants such as fibrosarcomatous DFSP.Their recognition is clinically relevant,as they may influence tumor biology,response to targeted therapy,and eligibility for clinical trials.This newly documented DFSP involving the lacrimal sac was initially misdiagnosed as a solitary fibrous tumor,emphasizing the diagnostic pitfalls in anatomically constrained regions and the importance of integrated diagnosis combining histology,immunohistochemistry,and molecular testing.In this editorial commentary,we briefly highlight the ever-growing genomic land-scape of DFSP,report rare fusions and their biological implications,and examine the role of expanded molecular diagnostics in refining diagnosis,guiding therapy,and informing prognosis.Incorporating comprehensive fusion analysis into routine workup may be critical for accurate classification,especially in unusual presentations where reliance on morphology alone risks misdiagnosis.
文摘BACKGROUND Dermatofibrosarcoma protuberans(DFSP)is a rare low-grade malignant soft tissue tumor characterized by rosette-like infiltrative growth.Postoperative recurrence of this tumor is very common.AIM To evaluate the risk factors related to recurrence after wide local excision(WLE)of DFSP and to guide clinical diagnosis and treatment.METHODS The medical records of 44 DFSP patients confirmed by pathology at our hospital from 2012 to 2019 were retrospectively reviewed.The relationship between clinical features,tumor characteristics,treatment,and recurrence risk were analyzed,and the possible risk factors for postoperative tumor recurrence were evaluated.RESULTS There were 44 patients in total,including 21 males and 23 females.The median progression free survival was 36 mo(range,1-240 mo).Twenty patients were treated for the first time,while 24 had previous treatment experience.Forty-two cases were followed for 25.76±22.0 mo,among whom four(9.52%)experienced recurrence after WLE(rate was 9.52%).The recurrence rate in the recurrent group was higher than that in the patients with primary tumor(19.05%vs 0%,P=0.028).Eighteen cases had a history of misdiagnosis(rate was 40.91%).The recurrence rate among patients with previous experience of misdiagnosis was significantly higher than in patients without(68%vs 36.84%,P=0.04).The tumor diameter in patients with a history of treatment was larger than in patients treated for the first time(4.75±0.70 cm vs 2.25±0.36 cm,P=0.004).CONCLUSION To sum up,the clinical manifestations of DFSP are not specific and are easily misdiagnosed,thus commonly causing the recurrence of DFSP.After incomplete resection,the tumor may rapidly grow.Previous recurrence history may be a risk factor for postoperative recurrence,and tumor location may have an indirect effect on postoperative recurrence;however,we found no significant correlation between sex,age,course of the disease,or tumor size and postoperative recurrence.
基金support from the NIHR Royal Marsden/ICR Biomedical Research Center
文摘Dermatofibrosarcoma protuberans(DFSP), the most common dermal sarcoma, is a low-grade, slow growing fibroblastic malignant neoplasm that most frequently affects middle aged adults and is characterized by a high local recurrence rate and a low propensity for metastasis. Wide surgical resection or Mohs micrographic surgery(MMS) are the preferred approaches for localized disease, while radiation therapy is warranted for inoperable disease or for cases with positive margins where re-excision is not possible. DFSP is generally regarded as refractory to conventional chemotherapy. Treatment options for systemic disease were limited until the discovery of a unique translocation, t(17;22)(q22;q13)(COL1A1;PDGFB) found in a majority of cases. In recent years, imatinib, a PDGFβR, ABL and KIT inhibitor, has revolutionized systemic therapy in DFSP. In this review, we summarize the epidemiological, clinical, histological and genetic characteristics of DFSP and update the readers on its current management.
文摘Objective:To study treatment and prognostic factor in 74 patients with dermatofibrosarcoma protuberans.Meth-ods:From August 1990 to November 1999,74 patients with dermatofibrosarcoma protuberans(DFSP)confirmed by pathology were treated in Cancer Hospital of Sun Yat-sen University.72 cases were given wide excision and 2 cases were given local exci-sion.All of 74 cases,52 cases had surgical resection alone,and 22 cases had surgical resection combined with radiotherapy.Total dose of radiotherapy was 50-70 Gy.Results:The rate of recurrence was 36.1% for all patients.The 5-year recurrence-free survival(RFS)rate was 66%.The 5-year recurrence-free survival rates for resection alone and combined with radiotherapy were 58% and 90%,respectively(P=0.0187).The 5-year recurrence-free survival rates for positive microscopic margins and negative microscopic margins were 57% and 75%,respectively(P=0.0468).Conclusion:Post-operation radiotherapy is an effective treatment to decrease the recurrence rate for the patients with positive microscope,or the patients without suitable surgical treatment.
文摘<strong>Background:</strong> Dermatofibrosarcoma protuberans (DFSP) is rare soft tissue sarcoma but has a locally aggressive nature. Although most cases are of low grade and have a rare metastasis rate, all DFSP variants have a tendency to show local recurrence. Wide excision with negative margins is the treatment of choice. <strong>Aim:</strong> To report a case of DFSP who presented with an asymptomatic slow growing tumor similar to etiologies such as hypertrophic scars or other benign soft tissue tumors. <strong>Case Presentation:</strong> A 68-year-old male presented with a large soft tumor located at the left posterior neck. Local excision was done under the preoperative impression of a benign tumor such as lipoma or sebaceous cyst. However the diagnosis of DFSP was made upon histological examination and the patient underwent another surgery to achieve free resection margins under general anesthesia as well as adjuvant radiotherapy. <strong>Conclusion:</strong> DFSP is a malignant tumor that is diagnosed histopathologically. Due to the low incidence rate, slow-growing nature, and non-alarming initial presentation features, diagnostic delay or even misdiagnosis is not uncommon.
文摘A 49-year-old woman was referred to the Department of Plastic and Breast Surgery under suspicion of breast cancer after a mammogram revealed a self-discovered tumor in the lower part of her left breast. Clinical examination, mammography, and histopathological examination revealed that the original tumor in the left breast was benign, and an incidental malignant tumor, a dermatofibrosarcoma protuberans (DFSP), was found in the contralateral breast. DFSP is a rare and highly malignant entity that is often silent and difficult to diagnose, making a biopsy essential. Surgical treatment must be aggressive due to the high risk of recurrence, which constitutes a technical challenge. The patient underwent surgery using an oncoplastic approach with a volume-reducing technique to achieve the best possible therapeutic and aesthetic results. Therapeutic breast reduction was performed on the right breast and the tumor was removed within the resected tissue. A contralateral symmetrizing mammoplasty was also performed simultaneously. The patient was discharged without major complications, and no recurrence of the tumor was seen during the 30-month follow-up period. The surgical approach included alternative solutions in addition to conventional lumpectomy or mastectomy. A multidisciplinary, open-minded, and creative approach resulted in a satisfying outcome for this patient.
基金supported by grants from the National Natural Science Foundation of China (81871576, 82302836)the Shanghai Rising-Star Program (23YF1403700)the Shanghai Plastic Surgery Research Center of Shanghai Priority Research Center (2023ZZ02023)
文摘Background:Dermatofibrosarcoma protuberans(DFSP)is an uncommon cutaneous sarcoma that infrequently involves the head and face.Despite its low incidence,the complex anatomical subunits of this region and frequent misdiagnosis can result in functional impairment and challenging reconstruction.However,the distribution characteristics of DFSP in the head and face have not yet been systematically evaluated.This study aimed to characterize the distribution of DFSP in the head and face to provide guidance for clinical diagnosis.Methods:We retrospectively reviewed patients who underwent treatment for DFSP involving the head and face at our hospital.The associations between tumor location and patient characteristics—including sex,age,tumor size,history of trauma,and histopathological features—were systematically analyzed.Results:Among the 161 cases,26(16.1%)involved DFSP of the head and face.The highest tumor frequency was observed in the cheek region(65.38%).Patients with DFSP located in the cheek were older than those with DFSP in non-cheek regions(48.82 vs.37.22 years,P=0.04).Histologically,among the 26 cases,23 were classic DFSP and 3 were fibrosarcomatous dermatofibrosarcoma protuberans(FS-DFSP),a more aggressive histologic subtype.The proportion of FS-DFSP was lower in the cheek region than in non-cheek areas(0 vs.3,P=0.032).Conclusion:DFSP of the head and face demonstrated a predilection for the cheek region.Recognition of this distribution pattern may assist dermatologists in the clinical assessment and management of patients,particularly for lesions involving the cheeks.
基金This study was supported by grants from National Natural Science Foundation of China （No. 81071282 and No. 81101180） and the Research Fund for the Doctoral Program of Higher Education of China （No. 20090181120108）.
文摘Dermatofibrosarcoma protuberans （DFSP） is a poorly differentiated interstitial tumor that originates from the dermis. It occurs predominantly in the 20-50-year- old males. DFSP generally presents as local pink plaques or nodules and subsequently develops into nodular masses accompanied by infiltrative growth to the surrounding tissue, including muscle and bone.
文摘Surgical resection of soft tissue sarcoma of the trunk can result in large defects requiring complex reconstruction for coverage of vital neurovascular structures and tissue defect. Large defects of the back could be reconstructed with multiple random pattern or local pedicled flaps. We present the case of a 48-year-old patient with a locally advanced dermatofibrosarcoma protuberans of the back. Wide local excision of the lesion was performed. The soft tissue defect measured 22 cm × 20 cm × 4 cm and was reconstructed with bilateral reverse latissimus dorsi myocutaneous (RLDM) flap. Each RLDM flap measured 24 cm × 10 cm. The donor site on the back was closed directly on both sides. The patient recovered well and the two flaps healed uneventfully. Twelve months after surgery the patient is disease-free. The use of a RLDM flap in mid-back reconstructions provided wide well-vascularized soft tissue, minimized risk of infection, and maximized back coverage. This flap is an excellent choice for reconstruction of large defects of the mid-back.
