Materiały źródłowe

• #1 Dermatofibrosarcoma Protuberans – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK513305/

  Dermatofibrosarcoma protuberans (DFSP) stands as a rare soft tissue sarcoma that emerges in the dermis and is often found on the trunk and proximal extremities. […] This condition can present as a slowly developing, robust plaque, exhibiting shades of pink or violet, underscoring the challenge of timely diagnosis. […] Healthcare professionals engaging in this comprehensive course on DFSP gain invaluable insights into its pathophysiology, clinical presentation, evaluation, and management. […] Through a deeper understanding of DFSP’s molecular underpinnings and clinical behavior, clinicians enhance their diagnostic acumen, facilitating earlier recognition and biopsy. […] Select appropriate diagnostic modalities, including biopsy techniques and molecular testing, into the diagnostic workup of patients suspected of having dermatofibrosarcoma protuberans.

• #2 Dermatofibrosarcoma Protuberans: Update on the Diagnosis and Treatment

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7355835/

  Dermatofibrosarcoma protuberans (DFSP) is a slow growing, low- to intermediate-grade dermal soft-tissue tumor. It has a high local recurrence rate but low metastatic potential. […] The standard treatment is complete surgical excision. The surgical procedures include wide local excision (WLE) with tumor free margins, Mohs micrographic surgery (MMS) and amputation. […] Molecular detection of the gene rearrangement or fusion transcripts is helpful for the diagnosis of patients with atypical morphology and for screening candidates for targeted therapy with tyrosine kinase inhibitors. […] The standard treatment of resectable DFSPs is complete surgical excision with either wide local excision with tumor free margins or Mohs micrographic surgery, or, rarely, amputation. […] In addition to a thorough history and physical examination, diagnosis of suspected DFSP ideally requires a generous biopsy (punch biopsy or excisional biopsy) for a pathologic diagnosis.

• #3 Dermatofibrosarcoma Protuberans: Update on the Diagnosis and Treatment

  https://www.mdpi.com/2077-0383/9/6/1752

  Dermatofibrosarcoma protuberans (DFSP) is a slow growing, low- to intermediate-grade dermal soft-tissue tumor. […] The standard treatment is complete surgical excision. […] Molecular detection of the gene rearrangement or fusion transcripts is helpful for the diagnosis of patients with atypical morphology and for screening candidates for targeted therapy with tyrosine kinase inhibitors. […] The aims of the present review are to update the clinical presentation, tumorigenesis and histopathology of DFSP and its variants for diagnosis and differential diagnosis from other benign and malignant tumors, to compare the advantages and drawbacks of WLE and MMS, to propose the baseline for selecting surgical procedure based on tumor’s location, size, stage and relationship with surrounding soft tissue and bone structures, and to provide a biologic rationale for the systemic therapy.

• #4 Dermatofibrosarcoma Protuberans: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1100203-overview

  Dermatofibrosarcoma protuberans (DFSP) is a relatively uncommon soft tissue neoplasm of intermediate- to low-grade malignancy of unknown etiology. DFSP presents as a slow-growing, firm, multilobular nodule or plaque with irregular margins. […] DFSP is a very slowly growing tumor and the diagnosis is often delayed for months to years and misdiagnosis can occur due to inadequate tissue sampling or superficial biopsy. For this reason, National Comprehensive Cancer Network (NCCN) guidelines recommend performing a punch or incisional biopsy, including the deeper subcutaneous layer for definitive diagnosis. […] Surgical excision remains the mainstay of treatment. Mohs micrographic surgery or other forms of peripheral and deep en face margin assessment (PDEMA) is the treatment of choice. Wide excision can be considered if PDEMA is unavailable. […] Because of the high local recurrence rate, patients require close follow-up care after treatment. Most recurrences occur within 3 years of the primary excision.

• #5 Dermatofibrosarcoma protuberans – Dermatology Advisor

  https://www.dermatologyadvisor.com/home/decision-support-in-medicine/dermatology/dermatofibrosarcoma-protuberans/

  Diagnosis of a dermatofibrosarcoma protuberans (DFSP) is often difficult to make on initial presentation. A high index of clinical suspicion coupled with histopathologic confirmation are necessary to confidently diagnose this rare cutaneous sarcoma. […] A skin biopsy is essential to confirm the diagnosis of DFSP. An ample tissue specimen is necessary for accurate histologic interpretation, either by punch or incisional biopsy, to obtain adequate depth. […] DFSP must be distinguished histologically from other fibrohistiocytic neoplasms, and immunohistochemical markers can be very helpful in confirming the diagnosis. […] Classically, DFSP stains positively for CD34 a human hematopoietic progenitor cell antigen and stains negative for factor XIIIa. […] DFSP is usually negative for S100A6 and vimentin, which are commonly positive in other fibrohistiocytic tumors.

• #6 Dermatofibrosarcoma protuberans – Wikipedia

  https://en.wikipedia.org/wiki/Dermatofibrosarcoma_protuberans

  Dermatofibrosarcoma protuberans (DFSP) is a malignant tumor diagnosed with a biopsy, when a portion of the tumor is removed for examination. In order to ensure that enough tissue is removed to make an accurate diagnosis, the initial biopsy of a suspected DFSP is usually done with a core needle or a surgical incision. […] Clinical palpation is not entirely reliable for ascertaining the depth of a DFSP infiltration. Magnetic resonance imaging (MRI) is more sensitive addressing the depth of the invasion on some types of DFSP, particularly large or recurring tumors, though MRI is less accurate for identifying infiltration to head and neck tumors. […] Due to the rarity, initial presentation of flat plaque (skin hardening) and the slow-growing nature of DFSP, it may be months to years without a protuberance (bump). The dissonance between the name of the neoplasm and its clinical presentations may cause a majority of patients to experience a diagnostic delay. A 2019 research study found out of 214 patients a range between less than a year to 42 years before diagnosis (median, four years) from patients noticing a symptom to diagnosis. […] Currently, a majority of patients (53%) receive a misdiagnosis by health care providers. The most frequent prebiopsy clinical suspicion included cyst, lipoma, and scar. […] It has been suggested an alternative term for DFSP should be dermatofibrosarcoma, often protuberant.

• #7 Dermatofibrosarcoma protuberans: A clinical analysis

  https://www.spandidos-publications.com/10.3892/ol.2018.8802

  Dermatofibrosarcoma protuberans (DFSP) is a rare cutaneous tumor with a high incidence of misdiagnosis. DFSP requires diagnosis by pathological examination, and surgical resection is the main treatment. The early clinical symptoms of DFSP are non-specific, making diagnosis difficult and leading to a high incidence of misdiagnosis. Pathological and immunohistochemical examinations are thus currently the gold standard for diagnosing DFSP, with surgical resection remaining the main treatment option. The recurrence rate was significantly higher among patients with FS-DFSP compared with those with DFSP. The high incidence of misdiagnosis of DFSP highlights the importance for pathological examination of early skin lesions in order to clarify the diagnosis. Histology with immunohistochemistry remain the gold standard for ensuring an accurate diagnosis.

• #8 Dermatofibrosarcoma protuberans

  https://dermnetnz.org/topics/dermatofibrosarcoma-protuberans

  Dermatofibrosarcoma protuberans is often diagnosed when it enters a more rapid growth phase giving rise to larger lesions. […] The absence of symptoms often leads to a delay in diagnosis of dermatofibrosarcoma protuberans. Redness and pain only occur in 15% of cases. It is often mistaken for other skin conditions, particularly in the early stages. Dermoscopy is not diagnostic as the features of dermatofibrosarcoma protuberans are nonspecific. Skin biopsy, including the deep dermis and subcutis, is needed to confirm the diagnosis. The abnormal cells are positive for CD34. […] Dermatofibrosarcoma protuberans has a characteristic appearance under the microscope with densely arranged spindle-shaped cells. It may be difficult to assess complete removal due to extensions widely in the skin and deeper structures. It is important to identify fibrosarcomatous dermatofibrosarcoma protuberans, a more aggressive tumour, which requires more aggressive treatment. This shows a high mitotic rate particularly deep within the tumour.

• #9 Dermatofibrosarcoma Protuberans | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/20385

  Dermatofibrosarcoma protuberans (DFSP) is an uncommon soft tissue sarcoma primarily found on the trunk and proximal extremities that typically appears as a slowly progressing, firm, violet-red, or blue plaque. Because DFSP is a slow-growing tumor, the diagnosis is often delayed for months to years. […] Surgical excision with clear margins is the preferred treatment, utilizing techniques like Mohs micrographic surgery or wide local excision. […] Patients require vigilant monitoring for local recurrence following curative treatment. […] Healthcare professionals should consider DFSP in individuals presenting with a slow-growing cutaneous nodule. Dermoscopy is the initial assessment tool, offering suggestive but not conclusive evidence. A core needle or excisional biopsy provides a definitive diagnosis.

• #10 Dermatofibrosarcoma Protuberans Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/1100203-workup

  DFSP is a very slowly growing tumor and the diagnosis is often delayed for months to years and misdiagnosis can occur due to inadequate tissue sampling or superficial biopsy. For this reason, National Comprehensive Cancer Network (NCCN) guidelines recommend performing a punch or incisional biopsy, including the deeper subcutaneous layer for definitive diagnosis. […] After preliminary workup, patients should be undergo a complete skin exam, multidisciplinary consultation and MRI with contrast to plan appropriate treatment in cases where subcutaneous extension is suspected. […] No blood test is available to help detect or diagnose dermatofibrosarcoma protuberans (DFSP). […] In most cases of dermatofibrosarcoma protuberans (DFSP), no imaging studies are used unless metastatic disease is suspected after a thorough history taking and a complete physical examination.

• #11 Skin cancer types: Dermatofibrosarcoma protuberans diagnosis & treatment

  https://www.aad.org/public/diseases/skin-cancer/dermatofibrosarcoma-protuberans

  How do dermatologists diagnose dermatofibrosarcoma protuberans (DFSP)? Your dermatologist will closely examine your skin. If your dermatologist suspects you have DFSP, you will need a skin biopsy. This is the only way to diagnose skin cancer. Your dermatologist can safely perform a skin biopsy during an office visit. […] Sometimes, a second skin biopsy is necessary to diagnose DFSP.

• #12 Dermatofibrosarcoma Protuberans in Childhood | Actas Dermo-Sifiliográficas

  https://www.actasdermo.org/en-dermatofibrosarcoma-protuberans-in-childhood-articulo-S1578219012003046

  In diagnosis, DFSP is suspected from the clinical characteristics, although in some cases, diagnosis might be extremely difficult as this is a very rare tumor, the clinical features are not striking, and its course is slowly progressive. The diagnosing physician should perform a complete examination of all the skin of all patients diagnosed with DFSP. […] Definitive diagnosis requires histopathologic study with immunohistochemical staining. When there is strong clinical suspicion but the initial biopsy results are inconclusive, a repeat biopsy is recommended. Cytogenetic studies can provide confirmation of diagnosis, although in 8% of cases, these studies are negative. […] It is important to emphasize how difficult it is to diagnose this tumor in the nonprotuberans phase. Given how rare the tumor is in children, diagnosis may be delayed until adulthood, when the lesion has its characteristic bulging form and adopts its usual proliferative behavior. The mean time taken to arrive at a definitive diagnosis in some pediatric series is 5 years, though some children are not diagnosed until 14 or 15 years have elapsed.

• #13 Dermatofibrosarcoma Protuberans (DFSP): Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/24068-dermatofibrosarcoma-protuberans

  Dermatofibrosarcoma protuberans (DFSP) is a rare type of skin cancer that starts in your skins middle layer (the dermis). Dermatologists perform Mohs surgery to treat DFSP. […] Dermatologists, medical doctors who specialize in skin cancer and skin diseases, diagnose DFSP. Your provider will perform a skin biopsy to remove part or all of the growth. Pathologists examine the tissue under a microscope to check for cancer cells. […] If the skin biopsy determines you have DFSP, you may get an MRI to determine the size and depth of the tumor. […] Surgical removal is the treatment of choice for DFSP. Dermatologists perform Mohs surgery to remove DFSP tumors. […] DFSP tumors can grow back after surgical removal. 20% to 30% or more of people experience a recurrence of DFSP within three years after wide excision, and up to 4% to 5% recur after Mohs surgery. […] A prompt diagnosis and treatment are critical to improving your outlook.

• #14 Dermatofibrosarcoma protuberans

  https://dermnetnz.org/topics/dermatofibrosarcoma-protuberans

  Dermatofibrosarcoma protuberans is often diagnosed when it enters a more rapid growth phase giving rise to larger lesions. […] The absence of symptoms often leads to a delay in diagnosis of dermatofibrosarcoma protuberans. Redness and pain only occur in 15% of cases. It is often mistaken for other skin conditions, particularly in the early stages. Dermoscopy is not diagnostic as the features of dermatofibrosarcoma protuberans are nonspecific. Skin biopsy, including the deep dermis and subcutis, is needed to confirm the diagnosis. The abnormal cells are positive for CD34. […] Dermatofibrosarcoma protuberans has a characteristic appearance under the microscope with densely arranged spindle-shaped cells. It may be difficult to assess complete removal due to extensions widely in the skin and deeper structures. It is important to identify fibrosarcomatous dermatofibrosarcoma protuberans, a more aggressive tumour, which requires more aggressive treatment. This shows a high mitotic rate particularly deep within the tumour.

• #15

  https://www.orthobullets.com/pathology/8066/dermatofibrosarcoma-protuberans

  Dermatofibrosarcoma Protuberans are rare, low-grade fibrogenic cutaneous sarcomas that occur in early to mid-adult life. […] Diagnosis is made with a biopsy showing uniform fibroblasts arranged in storiform pattern around an inconspicuous vasculature. […] Biopsy is required for diagnosis. […] Histology classically appears as uniform fibroblasts arranged in storiform pattern around an inconspicuous vasculature.

• #16

  https://journals.lww.com/cmj/fulltext/2022/02050/optical_diagnosis_of_dermatofibrosarcoma.15.aspx

  Dermatofibrosarcoma protuberans (DFSP) is a locally aggressive mesenchymal neoplasm of the skin that can be misdiagnosed as dermatofibroma (DF) because of similar histological characteristics. […] In this study, non-linear optical (NLO) microscopy was used for imaging unstained histological sections to make a differential diagnosis between DFSP and DF. […] This study aimed to demonstrate that label-free NLO imaging provides significant advantages over standard hematoxylin-eosin (HE) staining and allows pathologists to increase the diagnostic accuracy by using a quantifiable methodology. […] Dermatofibrosarcoma protuberans differed from DFs in both epidermal and dermal microstructures. […] The ill-defined cellular tumor is present within the deeper dermis, and there are uniform spindle cells that form storiform patterns.

• #17 Clinicopathological features of dermatofibrosarcoma protuberans

  https://www.spandidos-publications.com/10.3892/ol.2015.3966

  Dermatofibrosarcoma protuberans (DFSP) is a superficial cutaneous tumor of low malignant potential characterized by a high rate of local recurrence. […] The objective of the present study was to determine the clinicopathological features of DFSP. […] The factors that predict the recurrence of DFSP are an incorrect first pathological diagnosis and an inadequate surgical margin. […] In patients who have tumors with spindle cells arranged in a storiform pattern, CD34 immunohistochemical staining provides the definitive diagnosis. […] Exact histopathological categorization is important to select the appropriate treatment and predict the clinical outcome. […] The criteria for the diagnosis of DFSP were: i) The presence of spindle cells irregularly organized in linked fascicles with a storiform arrangement, and histopathological features compatible with DFSP; and ii) positive CD34 and vimentin immunohistochemical staining in spindle tumor cells.

• #18 Dermatofibrosarcoma Protuberans – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK513305/

  Typically, examining a hematoxylin and eosin-stained specimen by light microscopy can diagnose DFSP. […] All cases of suspected DFSP should undergo confirmatory immunohistochemistry testing. […] Molecular testing using reverse transcription polymerase chain reaction (RT-PCR) or fluorescence in situ hybridization (FISH) to detect the t(17;22)(q22;q13) translocation is available. […] Because most cases of DFSP are superficial, clinicians can assess the extent of tumor and lymph node involvement by physical examination. […] The initial treatment for localized DFSP is surgical resection with negative margins. […] Wide local excision (WLE) is an option for resection. […] Mohs micrographic surgery (MMS) involves the progressive horizontal slicing of tissue during resection, coupled with immediate microscopic evaluation via frozen section analysis.

• #19 Dermatofibrosarcoma Protuberans | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/20385

  All cases of suspected DFSP should undergo confirmatory immunohistochemistry testing. DFSP stains positive for CD34 in 80% to 100% of cases. […] Molecular testing using reverse transcription polymerase chain reaction (RT-PCR) or fluorescence in situ hybridization (FISH) to detect the t(17;22)(q22;q13) translocation is available. […] The initial treatment for localized DFSP is surgical resection with negative margins. […] Wide local excision (WLE) is an option for resection. […] Mohs micrographic surgery (MMS) involves the progressive horizontal slicing of tissue during resection, coupled with immediate microscopic evaluation via frozen section analysis. […] Current NCCN guidelines recommend the use of adjuvant radiation in the following settings: Positive margins after surgical resection, Negative margins, with the closest margin being less than 1 cm in patients who did not undergo MMS, For recurrent or metastatic disease when surgical excision is not feasible.

• #20 Guidelines for Diagnosis and Treatment of Cutaneous Sarcomas: Dermatofibrosarcoma Protuberans | Actas Dermo-Sifiliográficas

  https://www.actasdermo.org/en-guidelines-for-diagnosis-treatment-cutaneous-articulo-S1578219018303548

  Dermatofibrosarcoma protuberans is a low-grade malignant sarcoma. It exhibits slow-growth, is locally invasive, and has low metastatic potential (3%). Mohs micrographic surgery is the treatment of choice. The COL1A1-PDGFB translocation should be analyzed in cases of unclear diagnosis and when it is necessary to identify candidates for tyrosine kinase inhibitors. Imatinib is indicated for the treatment of locally advanced and metastatic dermatofibrosarcoma protuberans. […] A clinical suspicion of DFSP must be confirmed by biopsy prior to surgery. […] When there is histologic evidence of DFSP, an immunohistochemical study should be performed to rule out other tumors with similar features. The most characteristic immunohistochemical finding in DFSP is CD34 positivity, which is seen in 80% to 100% of neoplastic cells.

• #21 Dermatofibrosarcoma protuberans challenges: a case series and review of the literature | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-022-03728-6

  Dermatofibrosarcoma protuberans (DFSP) is a rare variant of skin sarcoma which is characterized by proliferation of spindle cells in a storiform pattern. […] Diagnosis of DFSP is achieved by histopathological and immunohistochemical (IHC) tests. […] CD34 marker in IHC investigation of samples by sensitivity of more than 85% has a key role in differentiating DFSP from other benign soft tissue tumors. […] MRI can function as a diagnostic tool in measuring the DFSP tumor size and their invasion of neuromuscular tissues and bone. […] In terms of treatment of DFSP, complete surgical excision is the gold standard. […] The most crucial prognostic factor is the extent of surgical excision, which indicates the importance of removal of deeper involved tissue such as deep fascia and muscles.

• #22 Dermatofibrosarcoma protuberans – Dermatology Advisor

  https://www.dermatologyadvisor.com/home/decision-support-in-medicine/dermatology/dermatofibrosarcoma-protuberans/

  Diagnosis of a dermatofibrosarcoma protuberans (DFSP) is often difficult to make on initial presentation. A high index of clinical suspicion coupled with histopathologic confirmation are necessary to confidently diagnose this rare cutaneous sarcoma. […] A skin biopsy is essential to confirm the diagnosis of DFSP. An ample tissue specimen is necessary for accurate histologic interpretation, either by punch or incisional biopsy, to obtain adequate depth. […] DFSP must be distinguished histologically from other fibrohistiocytic neoplasms, and immunohistochemical markers can be very helpful in confirming the diagnosis. […] Classically, DFSP stains positively for CD34 a human hematopoietic progenitor cell antigen and stains negative for factor XIIIa. […] DFSP is usually negative for S100A6 and vimentin, which are commonly positive in other fibrohistiocytic tumors.

• #23 Clinicopathological features of dermatofibrosarcoma protuberans

  https://www.spandidos-publications.com/10.3892/ol.2015.3966

  Dermatofibrosarcoma protuberans (DFSP) is a superficial cutaneous tumor of low malignant potential characterized by a high rate of local recurrence. […] The objective of the present study was to determine the clinicopathological features of DFSP. […] The factors that predict the recurrence of DFSP are an incorrect first pathological diagnosis and an inadequate surgical margin. […] In patients who have tumors with spindle cells arranged in a storiform pattern, CD34 immunohistochemical staining provides the definitive diagnosis. […] Exact histopathological categorization is important to select the appropriate treatment and predict the clinical outcome. […] The criteria for the diagnosis of DFSP were: i) The presence of spindle cells irregularly organized in linked fascicles with a storiform arrangement, and histopathological features compatible with DFSP; and ii) positive CD34 and vimentin immunohistochemical staining in spindle tumor cells.

• #24 Dermatofibrosarcoma Protuberans: Update on the Diagnosis and Treatment

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7355835/

  The pathology report should note the presence of fibrosarcomatous change or other high-risk features. […] Gene fusion transcript of COL1A1PDGFB can be detected by either fluorescent in situ hybridization (FISH) or multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) in formalin fixed, paraffin embedded tissues. […] These are helpful for the diagnosis, differential diagnosis and guiding treatment of DFSP, especially when the tumors histomorphology is not typical or when the tyrosine kinase inhibitors are considered for treatment. […] The proposed modified clinical staging system of DFSP is useful for treatment.

• #25 Dermatofibrosarcoma Protuberans: Update on the Diagnosis and Treatment

  https://www.mdpi.com/2077-0383/9/6/1752

  In addition to a thorough history and physical examination, diagnosis of suspected DFSP ideally requires a generous biopsy (punch biopsy or excisional biopsy) for a pathologic diagnosis. […] The pathology report should note the presence of fibrosarcomatous change or other high-risk features. […] Gene fusion transcript of COL1A1−PDGFB can be detected by either fluorescent in situ hybridization (FISH) or multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) in formalin fixed, paraffin embedded tissues. […] These are helpful for the diagnosis, differential diagnosis and guiding treatment of DFSP, especially when the tumor’s histomorphology is not typical or when the tyrosine kinase inhibitors are considered for treatment. […] The standard treatment of resectable DFSPs is complete surgical excision with either wide local excision with tumor free margins or Mohs micrographic surgery, or, rarely, amputation.

• #26 Dermatofibrosarcoma protuberans: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/dermatofibrosarcoma-protuberans/

  Dermatofibrosarcoma protuberans is a rare type of cancer that causes a tumor in the deep layers of skin. […] In dermatofibrosarcoma protuberans, the tumor has a tendency to return after being removed. However, it does not often spread to other parts of the body (metastasize). […] Dermatofibrosarcoma protuberans is associated with a rearrangement (translocation) of genetic material between chromosome 17 and chromosome 22. […] The translocation is acquired during a person’s lifetime and the chromosomes containing the translocation are present only in the tumor cells. This type of genetic change is called a somatic mutation. […] Dermatofibrosarcoma protuberans results from a new mutation that occurs in the body’s cells after conception and is found only in the tumor cells. This type of genetic change is called a somatic mutation and is generally not inherited. […] The abnormally fused COL1A1-PDGFB gene provides instructions for making an abnormal combined (fusion) protein that researchers believe ultimately functions like the PDGFB protein.

• #27 PDGF – Overview: PDGFB (22q13), Dermatofibrosarcoma Protuberans/Giant Cell Fibroblastoma, FISH, Tissue

  https://www.mayocliniclabs.com/test-catalog/overview/58102

  Confirming the diagnosis of dermatofibrosarcoma protuberans (DFSP)/giant cell fibroblastoma (GCF) and excluding other spindle neoplasms that closely simulate the DFSP histology, including dermatofibroma (benign fibrous histiocytoma), neurofibroma, spindle cell lipoma, and a variety of other benign and malignant spindle cell neoplasms […] Dermatofibrosarcoma protuberans (DFSP) is a superficial, low-grade sarcoma genetically characterized by the unbalanced chromosomal translocation t(17;22)(q21;q13), usually in the form of a supernumerary ring chromosome. The product of this chromosomal translocation is the chimeric gene COL1A1-PDGFB. Rearrangements of this gene have been detected in approximately 90% of DFSP and its related infantile form, giant cell fibroblastoma, but not in other tumors

• #28 Dermatofibrosarcoma protuberans

  https://dermnetnz.org/topics/dermatofibrosarcoma-protuberans

  Dermatofibrosarcoma protuberans’s chromosomal abnormalities can be detected using reverse transcription-polymerase chain reaction (RT-PCR) or fluorescence in-situ hybridisation (FISH). […] In most cases of dermatofibrosarcoma protuberans, no other investigations are necessary. If there is suspicion of metastasis or there is fibrosarcomatous transformation, lymph node ultrasound, chest X-ray and pelvic ultrasound scan may be arranged.

• #29 Dermatofibrosarcoma Protuberans Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/1100203-workup

  NCCN guidelines recommend patients undergo MRI with contrast to plan appropriate treatment in cases where subcutaneous extension is suspected. […] Although cytogenetic testing of dermatofibrosarcoma protuberans (DFSP) is not established as a standard workup, reverse transcriptase polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization (FISH) are suggested as screening tools for the presence of COL1A1-PDGFB fusion gene prior to initiation of oral imatinib molecular-targeted therapy. […] DFSP-FS (fibrosarcomatous variant) is a variant of DFSP that exhibits more aggressive behavior than DFSP, with lower recurrence-free survival and greater metastatic potential. As a result of the similar clinical presentation, it is necessary to have histopathological differentiation to determine prognosis. […] The American Joint Committee on Cancer has not developed a staging system for dermatofibrosarcoma protuberans (DFSP). Because of its very low risk of metastasis, DFSP can be viewed as mostly a local disease.

• #30 Guidelines for Diagnosis and Treatment of Cutaneous Sarcomas: Dermatofibrosarcoma Protuberans | Actas Dermo-Sifiliográficas

  https://www.actasdermo.org/en-guidelines-for-diagnosis-treatment-cutaneous-articulo-S1578219018303548

  Identification of the t(17;22) translocation by FISH or RT-PCR is not necessary for diagnosis in most cases. However, considering the specific nature of this translocation, molecular assays are very useful, and advisable, when there are diagnostic doubts or in cases of advanced disease to identify candidates for tyrosine kinase inhibitors. […] Complete surgical excision is the treatment of choice for DFSP. […] Several recent studies that have compared conventional wide local excision (WLE) and Mohs micrographic surgery (MMS) have demonstrated that MMS is associated with a much lower recurrence rate than WLE (3% vs 30%). […] In conclusion, MMS is currently the surgical treatment of choice for DFSP (supported by level of evidence 1B). […] In Europe, imatinib mesylate is approved for the treatment of inoperable primary tumors, inoperable local recurrent tumors, and metastatic DFSP.

• #31 Guidelines for Diagnosis and Treatment of Cutaneous Sarcomas: Dermatofibrosarcoma Protuberans | Actas Dermo-Sifiliográficas

  https://www.actasdermo.org/en-guidelines-for-diagnosis-treatment-cutaneous-articulo-S1578219018303548

  Identification of the t(17;22) translocation by FISH or RT-PCR is not necessary for diagnosis in most cases. However, considering the specific nature of this translocation, molecular assays are very useful, and advisable, when there are diagnostic doubts or in cases of advanced disease to identify candidates for tyrosine kinase inhibitors. […] Complete surgical excision is the treatment of choice for DFSP. […] Several recent studies that have compared conventional wide local excision (WLE) and Mohs micrographic surgery (MMS) have demonstrated that MMS is associated with a much lower recurrence rate than WLE (3% vs 30%). […] In conclusion, MMS is currently the surgical treatment of choice for DFSP (supported by level of evidence 1B). […] In Europe, imatinib mesylate is approved for the treatment of inoperable primary tumors, inoperable local recurrent tumors, and metastatic DFSP.

• #32 PDGFB RNA in situ hybridization for the diagnosis of dermatofibrosarcoma protuberans | Modern Pathology

  https://www.nature.com/articles/s41379-021-00800-2

  Dermatofibrosarcoma protuberans (DFSP) is a spindle cell neoplasm of the skin and superficial soft tissue with a tendency for locally aggressive behavior; metastatic potential coincides with fibrosarcomatous transformation. […] Here, we examined the utility of PDGFB RNA chromogenic in situ hybridization (CISH) for the diagnosis of DFSP. […] We conclude that PDGFB RNA CISH, with careful interpretation and the use of appropriate thresholds, may serve as a surrogate marker of PDGFB rearrangement and a useful ancillary tool for the diagnosis of DFSP. […] Establishing the diagnosis of DFSP and excluding benign and malignant histologic mimics may require a combination of immunohistochemical and molecular studies, particularly in the setting of a limited biopsy sample or unusual morphology.

• #33 PDGFB RNA in situ hybridization for the diagnosis of dermatofibrosarcoma protuberans | Modern Pathology

  https://www.nature.com/articles/s41379-021-00800-2

  In clinical practice, the molecular confirmation of DFSP often relies on DNA fluorescence in situ hybridization (FISH), reverse transcription-polymerase chain reaction (RT-PCR), or next-generation sequencing. […] Here, we examine the diagnostic utility of an RNA-based chromogenic in situ hybridization (CISH) approach targeting PDGFB to aid in the histologic identification of DSFP. […] In this study, PDGFB RNA CISH was found to be a sensitive and specific tool for the diagnosis of DFSP when implemented with careful interpretation of staining patterns and appropriate thresholds for determining positivity. […] We anticipate that PDGFB RNA CISH may have particular utility in the diagnosis of fibrosarcomatous DFSP, given its less distinctive morphological features and the possibility of CD34 loss of expression in a substantial proportion of cases.

• #34 PDGFB RNA in situ hybridization for the diagnosis of dermatofibrosarcoma protuberans | Modern Pathology

  https://www.nature.com/articles/s41379-021-00800-2

  A notable limitation of PDGFB-targeted RNA CISH for the diagnosis of DFSP is its inherent specificity for tumors driven by PDGFB rearrangement. […] We conclude that RNA CISH serves as a useful technique for the detection of PDGFB overexpression, seen in the vast majority of DFSPs as a consequence of a recurrent COL1A1-PDGFB rearrangement.

• #35 Dermatofibrosarcoma Protuberans Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/1100203-workup

  DFSP is a very slowly growing tumor and the diagnosis is often delayed for months to years and misdiagnosis can occur due to inadequate tissue sampling or superficial biopsy. For this reason, National Comprehensive Cancer Network (NCCN) guidelines recommend performing a punch or incisional biopsy, including the deeper subcutaneous layer for definitive diagnosis. […] After preliminary workup, patients should be undergo a complete skin exam, multidisciplinary consultation and MRI with contrast to plan appropriate treatment in cases where subcutaneous extension is suspected. […] No blood test is available to help detect or diagnose dermatofibrosarcoma protuberans (DFSP). […] In most cases of dermatofibrosarcoma protuberans (DFSP), no imaging studies are used unless metastatic disease is suspected after a thorough history taking and a complete physical examination.

• #36 Magnetic resonance imaging features of dermatofibrosarcoma protuberans; what the surgeon should know: a case series

  http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0038-23612021000200008

  Dermatofibrosarcoma protuberans (DFSP) is a rare, slow-growing, spindle cell neoplasm with low to intermediate grade malignant potential, commonly found in young and middle-aged adults, more in males than females. […] DFSP mostly originates in the dermis; rarely, it may be located in the deeper tissues without dermal involvement. […] Adequate and appropriate preoperative imaging is required to visualise these extensions and determine the extent of the tumour. […] Imaging features are not specific and may be confused with other pathologies such as benign peripheral nerve sheath tumour (BPNST). […] MRI is effective for determining the extent of tumour penetration and involvement of deeper structures prior to surgery and is also useful in the assessment of atypical lesions or recurrent disease.

• #37 Magnetic resonance imaging features of dermatofibrosarcoma protuberans; what the surgeon should know: a case series

  http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0038-23612021000200008

  Ultrasound, CT imaging and MRI are the most commonly utilised imaging modalities for diagnosing and assessing DFSP. […] MRI is used to evaluate larger and atypical lesions, assess local extension and is essential for preoperative planning. […] MRI has greater sensitivity than palpation for detecting the depth of infiltration. […] Preoperative MRI has been shown to facilitate surgical planning and assess the extent of tumour invasion and degree of involvement of critical structures. […] Surgical techniques include wide local excision (WLE) with tumour free margins and Mohs micrographic surgery (MMS). […] Wide resection involves a three-dimensional excision including normal skin, subcutaneous tissue and underlying investing fascia with a 2-4 cm margin from the gross tumour boundary and is the standard treatment for DFSP.

• #38 Dermatofibrosarcoma Protuberans (DFSP): Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/24068-dermatofibrosarcoma-protuberans

  Dermatofibrosarcoma protuberans (DFSP) is a rare type of skin cancer that starts in your skins middle layer (the dermis). Dermatologists perform Mohs surgery to treat DFSP. […] Dermatologists, medical doctors who specialize in skin cancer and skin diseases, diagnose DFSP. Your provider will perform a skin biopsy to remove part or all of the growth. Pathologists examine the tissue under a microscope to check for cancer cells. […] If the skin biopsy determines you have DFSP, you may get an MRI to determine the size and depth of the tumor. […] Surgical removal is the treatment of choice for DFSP. Dermatologists perform Mohs surgery to remove DFSP tumors. […] DFSP tumors can grow back after surgical removal. 20% to 30% or more of people experience a recurrence of DFSP within three years after wide excision, and up to 4% to 5% recur after Mohs surgery. […] A prompt diagnosis and treatment are critical to improving your outlook.

• #39 Dermatofibrosarcoma Protuberans Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/1100203-workup

  NCCN guidelines recommend patients undergo MRI with contrast to plan appropriate treatment in cases where subcutaneous extension is suspected. […] Although cytogenetic testing of dermatofibrosarcoma protuberans (DFSP) is not established as a standard workup, reverse transcriptase polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization (FISH) are suggested as screening tools for the presence of COL1A1-PDGFB fusion gene prior to initiation of oral imatinib molecular-targeted therapy. […] DFSP-FS (fibrosarcomatous variant) is a variant of DFSP that exhibits more aggressive behavior than DFSP, with lower recurrence-free survival and greater metastatic potential. As a result of the similar clinical presentation, it is necessary to have histopathological differentiation to determine prognosis. […] The American Joint Committee on Cancer has not developed a staging system for dermatofibrosarcoma protuberans (DFSP). Because of its very low risk of metastasis, DFSP can be viewed as mostly a local disease.

• #40 Dermatofibrosarcoma protuberans – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/dermatofibrosarcoma-protuberans/diagnosis-treatment/drc-20576979

  Tests and procedures used to diagnose dermatofibrosarcoma protuberans include: […] Your healthcare professional may inspect your skin to look for signs of skin cancer. […] Your healthcare professional may remove a small amount of tissue for testing. Tests in the lab can see if cancer cells are present. […] Sometimes imaging tests, such as an MRI, are needed to see the extent of the cancer and to help with treatment planning.

• #41 Dermatofibrosarcoma protuberans – Dermatology Advisor

  https://www.dermatologyadvisor.com/home/decision-support-in-medicine/dermatology/dermatofibrosarcoma-protuberans/

  The extent of tumor involvement can be estimated by computed tomography (CT) and more precisely with magnetic resonance imaging (MRI). However, imaging studies frequently fail to detect the fine extension of tumor fascicles into adjacent connective tissue and fat, and therefore may underestimate actual tumor size. […] Patients need long-term follow-up to detect local recurrences and although rare, to monitor for the development of late metastases. […] A high index of clinical suspicion can lead to earlier diagnosis of DFSP and smaller tumor size at the time of treatment.

• #42 Dermatofibrosarcoma protuberans

  https://dermnetnz.org/topics/dermatofibrosarcoma-protuberans

  Dermatofibrosarcoma protuberans’s chromosomal abnormalities can be detected using reverse transcription-polymerase chain reaction (RT-PCR) or fluorescence in-situ hybridisation (FISH). […] In most cases of dermatofibrosarcoma protuberans, no other investigations are necessary. If there is suspicion of metastasis or there is fibrosarcomatous transformation, lymph node ultrasound, chest X-ray and pelvic ultrasound scan may be arranged.

• #43 Magnetic resonance imaging features of dermatofibrosarcoma protuberans; what the surgeon should know: a case series

  http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0038-23612021000200008

  Although WLE is a simple procedure, it does not permit intraoperative evaluation of surgical margins and is consequently associated with a higher rate of recurrence compared to MMS. […] MRI is the preferred imaging modality of choice for soft tissue tumours due to the high soft tissue contrast resolution. […] It is frequently performed as part of the workup of DFSP to evaluate larger or atypical primary lesions or recurrent disease. […] Knowledge of DFSP imaging characteristics may alert radiologists to include it in the differential diagnosis of lesions with similar imaging characteristics.

• #44 Dermatofibrosarcoma protuberans | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/dermatofibrosarcoma-protuberans?lang=us

  Dermatofibrosarcoma protuberans (DFSP) is a low-grade malignant tumor arising from dermal and subcutaneous tissues and is the most common cutaneous sarcoma (although overall still quite rare). […] Its behavior is notable for a high reported local recurrence rate, although outcomes overall are favorable. […] Dermatofibrosarcoma protuberans has an excellent prognosis after complete resection but has a marked tendency to recur locally if inadequate surgical resection margins are obtained. […] Fibrosarcomatous transformation of dermatofibrosarcoma protuberans (FS-DFSP / fibrosarcoma ex-DFSP) is an uncommon and aggressive variant of DFSP, associated with a higher tendency for local recurrence and distant metastasis. […] Wide excision with 2 cm margins or Micrographic Mohs surgery with smaller margins is the treatment of choice for FS-DFSP, to avoid local recurrence and metastasis. […] Radiation has a role in cases with incomplete surgical resection, whereas the PDGFR-inhibitor imatinib is effective in irresectable, locally advanced and metastatic cases.

• #45 Dermatofibrosarcoma Protuberans: An Updated Review of the Literature

  https://www.mdpi.com/2072-6694/16/18/3124

  Dermatofibrosarcoma protuberans (DFSP) is a rare proliferative condition representing skin sarcomas which is known to locally recur yet very rarely metastasizes. […] The aim of this review is to outline the pathogenesis, diagnosis, and management of DFSP. […] A definitive diagnosis is first made by incisional (true-cut) or, less frequently, excisional biopsy in combination with anatomopathological examination, including histologic morphology and immunohistochemistry staining. […] Histologically, DFSP is similar to benign fibrous histiocytoma and deeply infiltrating dermatofibroma. […] A systematic review comparing oncologic outcomes for DFSP with and without fibrosarcomatous transformation confirmed that the risk of local recurrence, metastasis, and death is significantly elevated in fibrosarcomatous DFSP as compared with DFSP.

• #46 Dermatofibrosarcoma Protuberans Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/1100203-workup

  NCCN guidelines recommend patients undergo MRI with contrast to plan appropriate treatment in cases where subcutaneous extension is suspected. […] Although cytogenetic testing of dermatofibrosarcoma protuberans (DFSP) is not established as a standard workup, reverse transcriptase polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization (FISH) are suggested as screening tools for the presence of COL1A1-PDGFB fusion gene prior to initiation of oral imatinib molecular-targeted therapy. […] DFSP-FS (fibrosarcomatous variant) is a variant of DFSP that exhibits more aggressive behavior than DFSP, with lower recurrence-free survival and greater metastatic potential. As a result of the similar clinical presentation, it is necessary to have histopathological differentiation to determine prognosis. […] The American Joint Committee on Cancer has not developed a staging system for dermatofibrosarcoma protuberans (DFSP). Because of its very low risk of metastasis, DFSP can be viewed as mostly a local disease.

• #47 Dermatofibrosarcoma protuberans

  https://dermnetnz.org/topics/dermatofibrosarcoma-protuberans

  Dermatofibrosarcoma protuberans is often diagnosed when it enters a more rapid growth phase giving rise to larger lesions. […] The absence of symptoms often leads to a delay in diagnosis of dermatofibrosarcoma protuberans. Redness and pain only occur in 15% of cases. It is often mistaken for other skin conditions, particularly in the early stages. Dermoscopy is not diagnostic as the features of dermatofibrosarcoma protuberans are nonspecific. Skin biopsy, including the deep dermis and subcutis, is needed to confirm the diagnosis. The abnormal cells are positive for CD34. […] Dermatofibrosarcoma protuberans has a characteristic appearance under the microscope with densely arranged spindle-shaped cells. It may be difficult to assess complete removal due to extensions widely in the skin and deeper structures. It is important to identify fibrosarcomatous dermatofibrosarcoma protuberans, a more aggressive tumour, which requires more aggressive treatment. This shows a high mitotic rate particularly deep within the tumour.

• #48 SEER Inquiry System – Question 20210046 Details

  https://seer.cancer.gov/seer-inquiry/inquiry-detail/20210046/?

  Reportability–Skin: Is dermatofibrosarcoma protuberans (DFSP) with fibrosarcomatous transformation synonymous with dermatofibrosarcoma protuberans, fibrosarcomatous, and therefore reportable for diagnosis year 2021 and forward? […] Patient has a 2021 skin excision showing an atypical spindle cell neoplasm, most consistent with dermatofibrosarcoma protuberans (DFSP) with fibrosarcomatous transformation. […] Report DFSP with fibrosarcomatous transformation as it is synonymous with fibrosarcomatous DFSP (8832/3). According to the WHO Classification of Skin Tumors, 4th edition, fibrosarcomatous DFSP is a variant of DFSP and that fibrosarcomatous transformation is seen in approximately 10% of DFSP cases. It is characterized by an often abrupt transition of DFSP.

• #49 Dermatofibrosarcoma Protuberans: An Updated Review of the Literature

  https://www.mdpi.com/2072-6694/16/18/3124

  Therefore, the fibrosarcomatous change in DFSP warrants aggressive treatment and close observation for recurrence and metastasis. […] A large retrospective cohort study on 188 patients established that recurrence-free survival is highly significantly shorter in tumors with fibrosarcomatous transformation than in typical tumors. […] The understanding of the role of PDGF receptor β protein tyrosine kinase in DFSP has opened up new possibilities for tailored neoadjuvant therapies. […] Complete resection is the primary treatment. […] Wide radial surgical excision with at least 3 cm margins is the gold-standard curative treatment for localized DFSP but may result in functional impairment or cosmetic disfigurement. […] In summary, DFSP is a proliferative condition representing skin sarcomas which are known to locally recur yet very rarely metastasize.

• #50 Clinical Features, Pathological Findings and Treatment of Recurrent Dermatofibrosarcoma Protuberans

  https://www.jcancer.org/v08p1319.htm

  Dermatofibrosarcoma protuberans (DESP) is a relatively rare and low-grade tumor of the skin and soft tissue. Fifty-seven patients were diagnosed with recurrent DFSP. The histopathological diagnosis was ordinary DFSP (O-DFSP) in 46 cases and fibrosarcomatous DFSP (FS-DFSP) in 11 cases. All of the patients were treated with Mohs micrographic surgery (MMS). Our data demonstrated that the clinical features of recurrent DFSP are non-specific and variable. Our current practice suggests that MMS is very useful treatment choice for recurrent DFSP. Recurrent DFSP was defined as tumor regrowth at the original tumor site at least 6 months after the resection. Clinical records were independently reviewed by two investigators. In all cases, diagnosis was independently confirmed by two expert pathologists. Based on the histopathological findings, we divided DFSP into 2 types: fibrosarcomatous DFSP (FS-DFSP) and ordinary DFSP (O-DFSP). The average time to the first recurrence of FS-DFSP was 1.87 years after the primary simple excision, compared with 3.27 years in O-DFSP. The mean time to recurrence was 2.93 years after simple excision. However, MMS can be time consuming, and be difficult to perform on large lesions. In present study, none of the patients who had MMS recurred during follow-up. The main choice for recurrent DFSP is complete surgical excision. Although long-term follow-up data are lacking, our current practice suggests that MMS is very useful for recurrent cases.

• #51 Dermatofibrosarcoma protuberans – Dermatology Advisor

  https://www.dermatologyadvisor.com/home/decision-support-in-medicine/dermatology/dermatofibrosarcoma-protuberans/

  Diagnosis of a dermatofibrosarcoma protuberans (DFSP) is often difficult to make on initial presentation. A high index of clinical suspicion coupled with histopathologic confirmation are necessary to confidently diagnose this rare cutaneous sarcoma. […] A skin biopsy is essential to confirm the diagnosis of DFSP. An ample tissue specimen is necessary for accurate histologic interpretation, either by punch or incisional biopsy, to obtain adequate depth. […] DFSP must be distinguished histologically from other fibrohistiocytic neoplasms, and immunohistochemical markers can be very helpful in confirming the diagnosis. […] Classically, DFSP stains positively for CD34 a human hematopoietic progenitor cell antigen and stains negative for factor XIIIa. […] DFSP is usually negative for S100A6 and vimentin, which are commonly positive in other fibrohistiocytic tumors.

• #52 A case report of abdominal metastatic dermatofibrosarcoma protuberans misdiagnosed as gastrointestinal stromal tumor | Diagnostic Pathology | Full Text

  https://diagnosticpathology.biomedcentral.com/articles/10.1186/s13000-023-01430-9

  Dermatofibrosarcoma protuberans (DFSP) is a low-grade malignant soft-tissue tumor that originates from the skin. It has a slow onset in the early stages, non-specific clinical symptoms, low specificity, and can easily be overlooked, missed, or misdiagnosed by clinicians and pathologists. […] DFSP is prone to recurrence after local surgical treatment; however, distant metastasis, especially abdominal metastasis, is rare, which is also a challenge for the accurate diagnosis of DFSP when it progresses distantly. […] The immunohistochemical testing and pathological analysis of the outside hospital are as follows: (abdominal tumors and spleen) spindle cell soft tissue tumor, tumor cells only have moderate positive expression of a-SMA, Desmin and H-caldesmon are both negative, which does not support the diagnosis of leiomyosarcoma.

• #53 Dermatofibrosarcoma Protuberans in Childhood | Actas Dermo-Sifiliográficas

  https://www.actasdermo.org/en-dermatofibrosarcoma-protuberans-in-childhood-articulo-S1578219012003046

  In diagnosis, DFSP is suspected from the clinical characteristics, although in some cases, diagnosis might be extremely difficult as this is a very rare tumor, the clinical features are not striking, and its course is slowly progressive. The diagnosing physician should perform a complete examination of all the skin of all patients diagnosed with DFSP. […] Definitive diagnosis requires histopathologic study with immunohistochemical staining. When there is strong clinical suspicion but the initial biopsy results are inconclusive, a repeat biopsy is recommended. Cytogenetic studies can provide confirmation of diagnosis, although in 8% of cases, these studies are negative. […] It is important to emphasize how difficult it is to diagnose this tumor in the nonprotuberans phase. Given how rare the tumor is in children, diagnosis may be delayed until adulthood, when the lesion has its characteristic bulging form and adopts its usual proliferative behavior. The mean time taken to arrive at a definitive diagnosis in some pediatric series is 5 years, though some children are not diagnosed until 14 or 15 years have elapsed.

• #54 Dermatofibrosarcoma Protuberans: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1100203-overview

  Dermatofibrosarcoma protuberans (DFSP) is a relatively uncommon soft tissue neoplasm of intermediate- to low-grade malignancy of unknown etiology. DFSP presents as a slow-growing, firm, multilobular nodule or plaque with irregular margins. […] DFSP is a very slowly growing tumor and the diagnosis is often delayed for months to years and misdiagnosis can occur due to inadequate tissue sampling or superficial biopsy. For this reason, National Comprehensive Cancer Network (NCCN) guidelines recommend performing a punch or incisional biopsy, including the deeper subcutaneous layer for definitive diagnosis. […] Surgical excision remains the mainstay of treatment. Mohs micrographic surgery or other forms of peripheral and deep en face margin assessment (PDEMA) is the treatment of choice. Wide excision can be considered if PDEMA is unavailable. […] Because of the high local recurrence rate, patients require close follow-up care after treatment. Most recurrences occur within 3 years of the primary excision.

• #55 Dermatofibrosarcoma protuberans – Wikipedia

  https://en.wikipedia.org/wiki/Dermatofibrosarcoma_protuberans

  Dermatofibrosarcoma protuberans (DFSP) is a malignant tumor diagnosed with a biopsy, when a portion of the tumor is removed for examination. In order to ensure that enough tissue is removed to make an accurate diagnosis, the initial biopsy of a suspected DFSP is usually done with a core needle or a surgical incision. […] Clinical palpation is not entirely reliable for ascertaining the depth of a DFSP infiltration. Magnetic resonance imaging (MRI) is more sensitive addressing the depth of the invasion on some types of DFSP, particularly large or recurring tumors, though MRI is less accurate for identifying infiltration to head and neck tumors. […] Due to the rarity, initial presentation of flat plaque (skin hardening) and the slow-growing nature of DFSP, it may be months to years without a protuberance (bump). The dissonance between the name of the neoplasm and its clinical presentations may cause a majority of patients to experience a diagnostic delay. A 2019 research study found out of 214 patients a range between less than a year to 42 years before diagnosis (median, four years) from patients noticing a symptom to diagnosis. […] Currently, a majority of patients (53%) receive a misdiagnosis by health care providers. The most frequent prebiopsy clinical suspicion included cyst, lipoma, and scar. […] It has been suggested an alternative term for DFSP should be dermatofibrosarcoma, often protuberant.

• #56 Dermatofibrosarcoma Protuberans in Childhood | Actas Dermo-Sifiliográficas

  https://www.actasdermo.org/en-dermatofibrosarcoma-protuberans-in-childhood-articulo-S1578219012003046

  Dermatofibrosarcoma protuberans (DFSP) is a fibrohistiocytic tumor of intermediate malignancy that is very rare in childhood. Only 6% of these tumors present in children. Clinical diagnosis is very difficult in the early stages of disease, but to ensure appropriate treatment it is important to identify DFSP as early as possible and rule out benign conditions that are more common at this age. […] The clinical presentation and histopathologic and molecular characteristics of DFSP are similar in children and adults. Clinical diagnosis is, however, more difficult in children and requires a high degree of suspicion. The absence of characteristic features and the rarity of this tumor explain why diagnosis is often delayed. Complete surgical excision of the tumor is very important to reduce the risk of recurrence.

• #57 Dermatofibrosarcoma Protuberans Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/1100203-workup

  DFSP is a very slowly growing tumor and the diagnosis is often delayed for months to years and misdiagnosis can occur due to inadequate tissue sampling or superficial biopsy. For this reason, National Comprehensive Cancer Network (NCCN) guidelines recommend performing a punch or incisional biopsy, including the deeper subcutaneous layer for definitive diagnosis. […] After preliminary workup, patients should be undergo a complete skin exam, multidisciplinary consultation and MRI with contrast to plan appropriate treatment in cases where subcutaneous extension is suspected. […] No blood test is available to help detect or diagnose dermatofibrosarcoma protuberans (DFSP). […] In most cases of dermatofibrosarcoma protuberans (DFSP), no imaging studies are used unless metastatic disease is suspected after a thorough history taking and a complete physical examination.

• #58 Dermatofibrosarcoma Protuberans – MD Searchlight

  https://mdsearchlight.com/cancer/dermatofibrosarcoma-protuberans/

  Dermatofibrosarcoma protuberans (DFSP) is a rare type of skin cancer usually found on the torso and upper limbs. […] DFSP is known for penetrating significantly into surrounding tissue, often far beyond the spot that’s visible. […] If a person has a slowly developing skin lump, doctors might think it could be dermatofibrosarcoma protuberans (DFSP). The initial examination tool is a dermoscopy a special test that can hint at DFSP, but can’t prove it for sure. A definite diagnosis can only be made through a biopsy using a core needle or by removing the entire lump. […] Typically, doctors can diagnose DFSP by looking at the biopsy sample under a microscope after staining it with a special dye a process known as light microscopy. […] In cases where the diagnosis is still unsure, molecular testing, like the reverse transcription polymerase chain reaction (RT-PCR) or fluorescence in situ hybridization (FISH), might be used.

• #59 PDGF – Overview: PDGFB (22q13), Dermatofibrosarcoma Protuberans/Giant Cell Fibroblastoma, FISH, Tissue

  https://www.mayocliniclabs.com/test-catalog/overview/58102

  Confirming the diagnosis of dermatofibrosarcoma protuberans (DFSP)/giant cell fibroblastoma (GCF) and excluding other spindle neoplasms that closely simulate the DFSP histology, including dermatofibroma (benign fibrous histiocytoma), neurofibroma, spindle cell lipoma, and a variety of other benign and malignant spindle cell neoplasms […] Dermatofibrosarcoma protuberans (DFSP) is a superficial, low-grade sarcoma genetically characterized by the unbalanced chromosomal translocation t(17;22)(q21;q13), usually in the form of a supernumerary ring chromosome. The product of this chromosomal translocation is the chimeric gene COL1A1-PDGFB. Rearrangements of this gene have been detected in approximately 90% of DFSP and its related infantile form, giant cell fibroblastoma, but not in other tumors

• #60

  https://journals.lww.com/cmj/fulltext/2022/02050/optical_diagnosis_of_dermatofibrosarcoma.15.aspx

  Dermatofibrosarcoma protuberans (DFSP) is a locally aggressive mesenchymal neoplasm of the skin that can be misdiagnosed as dermatofibroma (DF) because of similar histological characteristics. […] In this study, non-linear optical (NLO) microscopy was used for imaging unstained histological sections to make a differential diagnosis between DFSP and DF. […] This study aimed to demonstrate that label-free NLO imaging provides significant advantages over standard hematoxylin-eosin (HE) staining and allows pathologists to increase the diagnostic accuracy by using a quantifiable methodology. […] Dermatofibrosarcoma protuberans differed from DFs in both epidermal and dermal microstructures. […] The ill-defined cellular tumor is present within the deeper dermis, and there are uniform spindle cells that form storiform patterns.

• #61 Dermatofibrosarcoma Protuberans: Early Recognition and Treatment | AAFP

  https://www.aafp.org/pubs/afp/issues/2000/0915/p1257.html

  Dermatofibrosarcoma protuberans (DFSP) is an uncommon, but not rare, aggressive soft tissue sarcoma arising in the dermis, with a high recurrence rate and a low metastatic potential. […] Accurate recognition and referral for appropriate initial treatment is essential to increase the patient’s chance of a successful excision and avoidance of recurrence. […] Diagnosis is confirmed through clinical evaluation in conjunction with histopathologic assessment of the lesion. […] Surgical excision using wide margin resection or Mohs micrographic surgery (MMS) is the mainstay of treatment for patients with DFSP. […] Early and accurate recognition, along with appropriate initial treatment, ensures the best outcome and prognosis for the patient.

• #62 Dermatofibrosarcoma Protuberans – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK513305/

  Radiation therapy is rarely used alone in the treatment of DFSP. […] Imatinib inhibits the PDGF receptor and other receptor tyrosine kinases such as c-KIT. […] Patients should participate in regular self-examination, and the primary site should be examined every 6 months for 3 to 5 years. […] Healthcare professionals caring for patients with DFSP must be proficient in recognizing the characteristics of DFSP and accurately interpreting diagnostic tests such as biopsies and imaging studies. […] Awareness of DFSP’s varied presentation and treatment modalities is crucial for timely diagnosis and management.

• #63 Dermatofibrosarcoma Protuberans (DFSP): Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/24068-dermatofibrosarcoma-protuberans

  Dermatofibrosarcoma protuberans (DFSP) is a rare type of skin cancer that starts in your skins middle layer (the dermis). Dermatologists perform Mohs surgery to treat DFSP. […] Dermatologists, medical doctors who specialize in skin cancer and skin diseases, diagnose DFSP. Your provider will perform a skin biopsy to remove part or all of the growth. Pathologists examine the tissue under a microscope to check for cancer cells. […] If the skin biopsy determines you have DFSP, you may get an MRI to determine the size and depth of the tumor. […] Surgical removal is the treatment of choice for DFSP. Dermatologists perform Mohs surgery to remove DFSP tumors. […] DFSP tumors can grow back after surgical removal. 20% to 30% or more of people experience a recurrence of DFSP within three years after wide excision, and up to 4% to 5% recur after Mohs surgery. […] A prompt diagnosis and treatment are critical to improving your outlook.

• #64 Dermatofibrosarcoma protuberans – Dermatology Advisor

  https://www.dermatologyadvisor.com/home/decision-support-in-medicine/dermatology/dermatofibrosarcoma-protuberans/

  Diagnosis of a dermatofibrosarcoma protuberans (DFSP) is often difficult to make on initial presentation. A high index of clinical suspicion coupled with histopathologic confirmation are necessary to confidently diagnose this rare cutaneous sarcoma. […] A skin biopsy is essential to confirm the diagnosis of DFSP. An ample tissue specimen is necessary for accurate histologic interpretation, either by punch or incisional biopsy, to obtain adequate depth. […] DFSP must be distinguished histologically from other fibrohistiocytic neoplasms, and immunohistochemical markers can be very helpful in confirming the diagnosis. […] Classically, DFSP stains positively for CD34 a human hematopoietic progenitor cell antigen and stains negative for factor XIIIa. […] DFSP is usually negative for S100A6 and vimentin, which are commonly positive in other fibrohistiocytic tumors.

• #65 Dermatofibrosarcoma Protuberans: An Updated Review of the Literature

  https://www.mdpi.com/2072-6694/16/18/3124

  Therefore, the fibrosarcomatous change in DFSP warrants aggressive treatment and close observation for recurrence and metastasis. […] A large retrospective cohort study on 188 patients established that recurrence-free survival is highly significantly shorter in tumors with fibrosarcomatous transformation than in typical tumors. […] The understanding of the role of PDGF receptor β protein tyrosine kinase in DFSP has opened up new possibilities for tailored neoadjuvant therapies. […] Complete resection is the primary treatment. […] Wide radial surgical excision with at least 3 cm margins is the gold-standard curative treatment for localized DFSP but may result in functional impairment or cosmetic disfigurement. […] In summary, DFSP is a proliferative condition representing skin sarcomas which are known to locally recur yet very rarely metastasize.

• #66 Guidelines for Diagnosis and Treatment of Cutaneous Sarcomas: Dermatofibrosarcoma Protuberans | Actas Dermo-Sifiliográficas

  https://www.actasdermo.org/en-guidelines-for-diagnosis-treatment-cutaneous-articulo-S1578219018303548

  Identification of the t(17;22) translocation by FISH or RT-PCR is not necessary for diagnosis in most cases. However, considering the specific nature of this translocation, molecular assays are very useful, and advisable, when there are diagnostic doubts or in cases of advanced disease to identify candidates for tyrosine kinase inhibitors. […] Complete surgical excision is the treatment of choice for DFSP. […] Several recent studies that have compared conventional wide local excision (WLE) and Mohs micrographic surgery (MMS) have demonstrated that MMS is associated with a much lower recurrence rate than WLE (3% vs 30%). […] In conclusion, MMS is currently the surgical treatment of choice for DFSP (supported by level of evidence 1B). […] In Europe, imatinib mesylate is approved for the treatment of inoperable primary tumors, inoperable local recurrent tumors, and metastatic DFSP.

• #67 Dermatofibrosarcoma Protuberans – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK513305/

  Radiation therapy is rarely used alone in the treatment of DFSP. […] Imatinib inhibits the PDGF receptor and other receptor tyrosine kinases such as c-KIT. […] Patients should participate in regular self-examination, and the primary site should be examined every 6 months for 3 to 5 years. […] Healthcare professionals caring for patients with DFSP must be proficient in recognizing the characteristics of DFSP and accurately interpreting diagnostic tests such as biopsies and imaging studies. […] Awareness of DFSP’s varied presentation and treatment modalities is crucial for timely diagnosis and management.

• #68 Dermatofibrosarcoma Protuberans: Update on the Diagnosis and Treatment

  https://www.mdpi.com/2077-0383/9/6/1752

  The prognoses of the patients with DFSP, after surgical resection with negative and sometimes even positive microscopic margins, are generally good. […] Periodic surveillance, at an interval of 6 months in the first five years and then yearly post-excision, is recommended to monitor potential recurrence and metastasis.

• #69 Dermatofibrosarcoma protuberans (DFSP) | Sarcoma UK

  https://sarcoma.org.uk/about-sarcoma/what-is-sarcoma/types-of-sarcoma/dermatofibrosarcoma-protuberans-dfsp/

  If DFSP is left for several years, it can grow through the top layer of the skin and develop into an ulcer. […] DFSP can sometimes come back in the same area where a previous tumour has been removed. This is called a recurrence. If DFSP does reappear, it is important to get treatment as quickly as possible. This could involve further surgery or radiotherapy. […] It is useful to check for recurrences yourself through self-examination. If you are worried about your DFSP returning contact your doctor or clinical nurse specialist. […] DFSP can sometimes come back in the same area where the previous tumour was removed from. This is called a local recurrence. […] If you have had Mohs surgery to remove the tumour then a recurrence is very rare. […] To check for the cancer coming back, you will have regular follow-ups after your treatment for many years. If DFSP does come back, it is important to get treatment as quickly as possible. This could involve further surgery, or it could mean having targeted therapy, radiotherapy, or chemotherapy. Your treatment will be assessed on an individual basis. […] It is very rare for DFSP to spread to another part of the body. But if it does, treatment may involve surgery, targeted therapy, radiotherapy, chemotherapy, or a combination of these treatments. This will be assessed on an individual basis.

• #70 Dermatofibrosarcoma Protuberans | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/20385

  Imatinib has the United States Food and Drug Administration (FDA) approval for unresectable, recurrent, or metastatic DFSP. […] Patients should participate in regular self-examination, and the primary site should be examined every 6 months for 3 to 5 years. […] The prognosis for DFSP is generally favorable, with a 10-year survival rate of 99.1%. However, patients with metastatic disease typically survive approximately 2 years post-diagnosis. […] Healthcare professionals should emphasize the significance of regular skin examinations and seeking medical evaluation for any suspicious lesions, which can facilitate early detection and improve outcomes.

• #71 Dermatofibrosarcoma Protuberans (DFSP): Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/24068-dermatofibrosarcoma-protuberans

  Dermatofibrosarcoma protuberans (DFSP) is a rare type of skin cancer that starts in your skins middle layer (the dermis). Dermatologists perform Mohs surgery to treat DFSP. […] Dermatologists, medical doctors who specialize in skin cancer and skin diseases, diagnose DFSP. Your provider will perform a skin biopsy to remove part or all of the growth. Pathologists examine the tissue under a microscope to check for cancer cells. […] If the skin biopsy determines you have DFSP, you may get an MRI to determine the size and depth of the tumor. […] Surgical removal is the treatment of choice for DFSP. Dermatologists perform Mohs surgery to remove DFSP tumors. […] DFSP tumors can grow back after surgical removal. 20% to 30% or more of people experience a recurrence of DFSP within three years after wide excision, and up to 4% to 5% recur after Mohs surgery. […] A prompt diagnosis and treatment are critical to improving your outlook.

• #72 Dermatofibrosarcoma Protuberans: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1100203-overview

  Dermatofibrosarcoma protuberans (DFSP) is a relatively uncommon soft tissue neoplasm of intermediate- to low-grade malignancy of unknown etiology. DFSP presents as a slow-growing, firm, multilobular nodule or plaque with irregular margins. […] DFSP is a very slowly growing tumor and the diagnosis is often delayed for months to years and misdiagnosis can occur due to inadequate tissue sampling or superficial biopsy. For this reason, National Comprehensive Cancer Network (NCCN) guidelines recommend performing a punch or incisional biopsy, including the deeper subcutaneous layer for definitive diagnosis. […] Surgical excision remains the mainstay of treatment. Mohs micrographic surgery or other forms of peripheral and deep en face margin assessment (PDEMA) is the treatment of choice. Wide excision can be considered if PDEMA is unavailable. […] Because of the high local recurrence rate, patients require close follow-up care after treatment. Most recurrences occur within 3 years of the primary excision.

• #73 Dermatofibrosarcoma Protuberans: An Updated Review of the Literature

  https://www.mdpi.com/2072-6694/16/18/3124

  Malignant transformation within DFSP (or high histologic grade), older age, being female, large primary tumor size (≥10 cm), narrow surgical margins of excision (<3 cm), surgical margin positivity for tumor cells, short time to recurrence, numerous recurrences, a tumor that was recently rapidly enlarging, and presence of pain in the tumor have all been proposed as clinicopathologic risk factors for recurrence and metastasis.

• #74 Clinicopathological features of dermatofibrosarcoma protuberans

  https://www.spandidos-publications.com/10.3892/ol.2015.3966

  The univariate log-rank analysis identified a large tumor size and an incorrect first pathological diagnosis as significant parameters associated with sarcomatous transformation in DFSP. […] An incorrect first pathological diagnosis was significantly associated with sarcomatous transformation and the recurrence of DFSP. […] Successful DFSP treatment begins with an accurate pathological diagnosis. […] The factors that predict the sarcomatous transformation of DFSP are a larger tumor size and an incorrect first pathological diagnosis. […] The exact histopathological categorization is important for selecting the appropriate treatment and for predicting the clinical outcome.

• #75 Dermatofibrosarcoma Protuberans – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK513305/

  Radiation therapy is rarely used alone in the treatment of DFSP. […] Imatinib inhibits the PDGF receptor and other receptor tyrosine kinases such as c-KIT. […] Patients should participate in regular self-examination, and the primary site should be examined every 6 months for 3 to 5 years. […] Healthcare professionals caring for patients with DFSP must be proficient in recognizing the characteristics of DFSP and accurately interpreting diagnostic tests such as biopsies and imaging studies. […] Awareness of DFSP’s varied presentation and treatment modalities is crucial for timely diagnosis and management.

• #76 Clinical, dermoscopic, radiological and histopathological features of dermatofibrosarcoma protuberans | BMJ Case Reports

  https://casereports.bmj.com/content/16/2/e254255

  Dermatofibrosarcoma protuberans (DFSP) is a rare soft tissue tumour commonly affecting young adults. It is an intermediate-grade malignancy that rarely metastatizes, but has a high recurrence rate. Diagnosis is established by histopathology. […] The clinico-dermoscopic diagnosis of DFSP was confirmed by histopathology showing monomorphic spindle-shaped cells, without atypia or mitoses, diffusely infiltrating the dermis and subcutis in whorls or storiform pattern. […] Diagnosis of DFSP is established by histopathology. Dermoscopy and radiological assessment are useful non-invasive adjuncts to assert the clinical diagnosis. The latter also helps in delineating the tumour extent to facilitate optimal surgical resection and also in ruling out distant metastases.

• #77 Dermatofibrosarcoma protuberans (DFSP) | Sarcoma UK

  https://sarcoma.org.uk/about-sarcoma/what-is-sarcoma/types-of-sarcoma/dermatofibrosarcoma-protuberans-dfsp/

  DFSP is a rare tumour that tends to develop from the cells in the middle layer of the skin, called the dermis. […] DFSP is thought to be caused when someone has extra chromosomes, or when someone has certain chromosomes that have been broken apart and put back together in the wrong way. […] DFSP tends to grow slowly, and very rarely spreads to other parts of the body. But, it is important to get correct treatment as soon as possible. Without the correct treatment, DFSP can grow deep into the fat, muscle and bone, which makes it more difficult to treat. […] A specialist doctor will diagnose DFSP through a series of tests. These may include: Physical examination looking at and feeling any lump, A skin biopsy taking and testing a sample of the tumour on the skin. Using this biopsy, a doctor will look to see if the biopsy looks like DFSP, A scan taking pictures of the inside of the body using scans such as MRI scans.

• #78 Orphanet: Dermatofibrosarcoma protuberans

  https://www.orpha.net/en/disease/detail/31112

  Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22). […] Diagnosis may be suspected on the basis of histological findings on biopsy samples showing features of a well-differentiated fibroblastic tumor with the characteristic microscopic appearance of interwoven fascicles of cells forming a swirling pattern and positive staining for CD34. Cytogenetic analysis identifying the characteristic t(17;22) chromosomal translocation or interphase FISH using split-apart probes for chromosome 22 can be used to confirm the diagnosis. Imaging modalities such as MRI or CT scans are most useful for assessing the depth of tumor invasion or identifying metastatic sites.

• #79 Dermatofibrosarcoma Protuberans: Early Recognition and Treatment | AAFP

  https://www.aafp.org/pubs/afp/issues/2000/0915/p1257.html

  Dermatofibrosarcoma protuberans (DFSP) is an uncommon, but not rare, aggressive soft tissue sarcoma arising in the dermis, with a high recurrence rate and a low metastatic potential. […] Accurate recognition and referral for appropriate initial treatment is essential to increase the patient’s chance of a successful excision and avoidance of recurrence. […] Diagnosis is confirmed through clinical evaluation in conjunction with histopathologic assessment of the lesion. […] Surgical excision using wide margin resection or Mohs micrographic surgery (MMS) is the mainstay of treatment for patients with DFSP. […] Early and accurate recognition, along with appropriate initial treatment, ensures the best outcome and prognosis for the patient.

• #80 A case report of abdominal metastatic dermatofibrosarcoma protuberans misdiagnosed as gastrointestinal stromal tumor | Diagnostic Pathology | Full Text

  https://diagnosticpathology.biomedcentral.com/articles/10.1186/s13000-023-01430-9

  This case reminds pathologists to make comprehensive judgments combining the patients history and other factors to provide the most accurate diagnosis. […] In summary, DFSP is rare, with a low degree of malignancy, and abdominal metastasis is even rarer. This case was misdiagnosed as a gastrointestinal stromal tumor and was treated with imatinib mesylate, which suggests that pathologists should make comprehensive judgments based on medical history, immunohistochemistry, and molecular genetic results.

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