Synovial sarcoma is a relatively common soft tissue tumor characterized by highly specific t(X;18)(p11;q11) translocation resulting in the fusion of SS18 with members of SSX gene family. Typically, detection of SS18 locus rearrangement by fluorescence in situ hybridization or SS18 :: SSX fusion transcripts confirms the diagnosis. More recently, immunohistochemistry (IHC) for SS18-SSX chimeric protein (E9X9V) and C-terminus of SSX (E5A2C) showed high specificity and sensitivity for synovial sarcoma. This study screened a cohort of >1000 soft tissue and melanocytic tumors using IHC and E9X9V and E5A2C antibodies. Three percent (6/212) of synovial sarcomas were either negative for SS18-SSX or had scattered positive tumor cells (n=1). In these cases, targeted RNA next-generation sequencing detected variants of SS18 :: SSX chimeric transcripts. DNA methylation profiles of 2 such tumors matched with synovial sarcoma. A few nonsynovial sarcoma tumors (n=6) revealed either focal SS18-SSX positivity (n=1) or scattered positive tumor cells. However, targeted RNA next-generation sequencing failed to detect SS18 :: SSX transcripts in these cases. The nature of this immunopositivity remains elusive and may require single cell sequencing studies. All synovial sarcomas showed positive SSX IHC. However, a mosaic staining pattern or focal loss of expression was noticed in a few cases. Strong and diffuse SSX immunoreactivity was also seen in epithelioid sclerosing osteosarcoma harboring EWSR1 :: SSX1 fusion, while several sarcomas and melanocytic tumors including cellular blue nevus (5/7, 71%) revealed focal to diffuse, mostly weak to intermediate SSX staining. The SS18-SSX and SSX IHC is a useful tool for synovial sarcoma differential diagnosis, but unusual immunophenotype should trigger molecular genetic testing.
- MeSH
- diferenciální diagnóza MeSH
- fúzní onkogenní proteiny genetika metabolismus MeSH
- hybridizace in situ fluorescenční MeSH
- imunohistochemie MeSH
- lidé MeSH
- nádory měkkých tkání * diagnóza genetika MeSH
- rekombinantní fúzní proteiny genetika MeSH
- RNA MeSH
- synoviom * diagnóza genetika patologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
Chordoma is a rare malignant tumor with notochordal differentiation, usually affecting the axial skeleton of young patients. We report a case of a high-grade epithelioid tumor involving the synovium and soft tissues of the knee in a 74-year-old male patient. The preliminary biopsy was inconclusive, but a diagnosis of metastatic clear-cell carcinoma of unknown origin was suggested. However, imaging studies did not reveal any primary lesions. The resection specimen consisted of nests and sheets of oval to polygonal cells with discernible cell borders, clear or lightly amphophilic cytoplasm, and round to oval nuclei with occasional well-visible eosinophilic nucleoli. Rare atypical mitoses, necrotic areas, and bizarre nuclei were noted. The biopsy and resection specimens underwent a wide molecular genetic analysis which included methylation profiling. The DKFZ sarcoma classifier assigned the methylation class chordoma (dedifferentiated) with a calibrated score of 0.96, and additionally, a loss of SMARCB1 locus was noted in the copy number variation plot. To verify these findings, T-brachyury and SMARCB1 immunostaining was performed afterward, showing diffuse nuclear positivity and complete loss in the tumor cells, respectively. To assess the prevalence of T-brachyury immunopositivity among SWI/SNF-deficient tumors and to evaluate its specificity for poorly differentiated chordoma, we analyzed a series of 23 SMARCB1- or SMARCA4-deficient tumors, all of which were negative. After incorporating all the available data, including the absence of any morphological features of conventional chordoma, the case was diagnosed as poorly differentiated chordoma. As illustrated herein, the utilization of methylation profiling in the diagnostic process of some carefully selected unclassifiable soft tissue neoplasms may lead to an increased detection rate of such extremely rare soft tissue tumors and enable their better characterization.
- MeSH
- buněčná diferenciace MeSH
- chordom * patologie genetika diagnóza metabolismus MeSH
- fetální proteiny * genetika metabolismus MeSH
- gen SMARCB1 * genetika MeSH
- lidé MeSH
- metylace DNA * MeSH
- nádorové biomarkery * analýza genetika MeSH
- nádory měkkých tkání patologie diagnóza genetika metabolismus MeSH
- proteiny T-boxu * genetika metabolismus MeSH
- senioři MeSH
- transkripční faktory genetika MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
PURPOSE OF THE STUDY: Open (incisional) biopsies have long been accepted as the gold standard in diagnosing bone and soft tissue tumors. However, the main disadvantage of this method is that it can lead to increased contamination, hematoma, infection, and pathological fracture. Compared to open biopsies, percutaneous core needle biopsies are less invasive, do not require hospitalization, have low costs and low complication rates, and there is no need for wound healing in cases that require radiotherapy. This study evaluated the diagnostic accuracy and reliability of percutaneous core needle biopsy. MATERIAL AND METHODS: The study included the results of 250 percutaneous core needle biopsies of 244 patients who presented at the tertiary university hospital between September 2012 - September 2022 and were diagnosed with a bone or soft tissue tumor using the percutaneous core needle biopsy method and then underwent surgical excision in the Orthopaedics and Traumatology Clinic. The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and diagnostic accuracy rates were calculated for the percutaneous core needle biopsy method according to the compatibility of the results. RESULTS: A fluoroscopy-guided percutaneous Jamshidi needle biopsy performed by an orthopedist for lesions originating from the bone has a diagnostic accuracy of 96%. CT-guided percutaneous Jamshidi needle biopsy performed by a radiologist for lesions originating from the bone has a diagnostic accuracy of 88.9%. Percutaneous Tru-cut needle biopsy performed by an orthopedist without imaging guidance for lesions originating from soft tissue has a diagnostic accuracy of 92%. USGguided percutaneous Tru-cut needle biopsy performed by a radiologist for lesions originating from soft tissue has a diagnostic accuracy of 96,7% (p<0.001). DISCUSSION: The diagnostic accuracy of open biopsies ranges from 91% to 99% in the literature. Additionally, the diagnostic accuracy of core needle biopsies in recent studies ranges from 76% to 99%. Compared to the literature, our study has shown that biopsies performed by orthopedic specialists have a high diagnostic power (96% for bone-derived lesions; 92% for soft tissue-derived lesions). CONCLUSIONS: Percutaneous core needle biopsy is highly effective and reliable in diagnosing bone and soft tissue tumors. Managing patients by a team using a multidisciplinary approach will increase diagnostic success. KEY WORDS: core needle biopsy, percutaneous, diagnostic accuracy, radiology guided biopsy, bone and soft tissue tumors.
- MeSH
- biopsie dutou jehlou metody MeSH
- dospělí MeSH
- fluoroskopie metody MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- nádory kostí * patologie diagnóza chirurgie MeSH
- nádory měkkých tkání * patologie diagnóza MeSH
- počítačová rentgenová tomografie metody MeSH
- prediktivní hodnota testů MeSH
- reprodukovatelnost výsledků MeSH
- senioři MeSH
- senzitivita a specificita * MeSH
- ultrazvukem navigovaná biopsie metody MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Diagnosis of soft tissue tumors is often challenging, given the large number of entities, often with non-specific or overlapping morphology. Although morphology still plays an important part in diagnostic process, additional studies including immunohistochemistry and molecular genetics are often needed to arrive at correct diagnosis. We report a case of 61-year-old male with subcutaneous tumor in right hip area, that was surgically removed. The tumor was composed of uniform bland spindle cells in mild to moderately cellular myxoid nodules, with limited areas of collagenization and the diagnosis of low grade fibromyxoid sarcoma was made. The tumor recurred 3 years after the initial diagnosis and the new sample showed a high-grade round cell sarcoma with limited residual low-grade areas and non-specific immunoprofile after extended immunohistochemical work-up. Molecular analysis demonstrated ZC3H7B::BCOR fusion. Sarcomas with ZC3H7B::BCOR fusion occurring outside of uterus are exceedingly rare. A comprehensive review of previously published cases and a short discussion about classification of the entity is provided, together with data about morphology and immunoprofile of the lesions. The case also underscores the necessity of extended work up of soft tissue tumors with unusual immunohistochemical or morphological features in order to accurately assess their biological potential.
- MeSH
- fibrosarkom * diagnóza MeSH
- lidé středního věku MeSH
- lidé MeSH
- lokální recidiva nádoru MeSH
- nádorové biomarkery analýza MeSH
- nádory měkkých tkání * diagnóza patologie MeSH
- proteiny vázající RNA MeSH
- protoonkogenní proteiny metabolismus MeSH
- represorové proteiny metabolismus MeSH
- sarkom * patologie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- přehledy MeSH
Preferentially expressed antigen in melanoma (PRAME) immunohistochemistry is currently used in pathology for the assessment of melanocytic neoplasms; however, knowledge of its expression patterns in soft tissue tumors is limited. PRAME immunohistochemistry (clone QR005) was assessed on whole tissue sections of 350 soft-tissue tumors and mimics (> 50 histotypes). PRAME immunoreactivity was evaluated as follows: 0 "negative" (0% positive cells); 1+ (1-25% positive cells); 2+ (26-50% positive cells); 3+ (51-75% positive cells), and 4+ "diffuse" (> 75% positive cells). PRAME was expressed in 111 lesions (0 benign, 6 intermediate malignancy, and 105 malignant), including fibrosarcomatous dermatofibrosarcoma protuberans (2/4, 0 diffuse), NTRK-rearranged spindle cell neoplasm (2/4, 0 diffuse), atypical fibroxanthoma (1/7, 0 diffuse), Kaposi sarcoma (1/5, 0 diffuse), myxoid liposarcoma (11/11, 9 diffuse), synovial sarcoma (11/11, 6 diffuse), intimal sarcoma (7/7, 5 diffuse), biphenotypic sinonasal sarcoma (3/3, 1 diffuse), angiosarcoma (10/15, 6 diffuse), malignant peripheral nerve sheath tumor (9/12, 4 diffuse), pleomorphic rhabdomyosarcoma (2/3, 2 diffuse), alveolar rhabdomyosarcoma (2/6, 0 diffuse), embryonal rhabdomyosarcoma (7/7, 4 diffuse), undifferentiated pleomorphic sarcoma (2/12, 1 diffuse), leiomyosarcoma (2/15, 1 diffuse), clear cell sarcoma of soft tissue (1/10, 0 diffuse), low-grade fibromyxoid sarcoma (1/5, 0 diffuse), Ewing sarcoma (2/10, 1 diffuse), CIC-rearranged sarcoma (8/8, 4 diffuse), BCOR-sarcoma (2/5, 1 diffuse), melanoma (20/20, 14 diffuse), and thoracic SMARCA4-deficient undifferentiated tumor (5/5, all diffuse). All tested cases of spindle cell lipoma, dedifferentiated/pleomorphic liposarcoma, dermatofibrosarcoma protuberans, solitary fibrous tumor, inflammatory myofibroblastic tumor, myxoinflammatory fibroblastic sarcoma, nodular fasciitis, myxofibrosarcoma, epithelioid hemangioendothelioma, atypical vascular lesion, hemangioma, lymphangioma, vascular malformation, papillary endothelial hyperplasia, GIST, gastrointestinal clear-cell sarcoma, malignant melanotic nerve sheath tumor, neurofibroma, schwannoma, granular cell tumor, alveolar soft part sarcoma, epithelioid sarcoma, extraskeletal myxoid chondrosarcoma, myoepithelioma, ossifying fibromyxoid tumor, angiomatoid fibrous histiocytoma, PEComa, dermatofibroma, pleomorphic dermal sarcoma, and chordoma were negative. PRAME shows imperfect specificity in soft-tissue pathology but may serve as a diagnostic adjunct in selected differential diagnoses that show contrasting expression patterns.
- MeSH
- antigeny nádorové MeSH
- diferenciální diagnóza MeSH
- DNA-helikasy MeSH
- dospělí MeSH
- Ewingův sarkom * diagnóza MeSH
- fibrosarkom * diagnóza MeSH
- imunohistochemie MeSH
- jaderné proteiny MeSH
- lidé MeSH
- melanom * patologie MeSH
- nádorové biomarkery metabolismus MeSH
- nádory kůže * patologie MeSH
- nádory měkkých tkání * diagnóza patologie MeSH
- sarkom * diagnóza patologie MeSH
- transkripční faktory MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
PURPOSE OF THE STUDY Soft tissue sarcomas of the popliteal fossa are extremely rare tumors of mesenchymal origin accounting for 3%-5% of all extremity sarcomas. However, data regarding the tumor type, neurovascular involvement, and administration of radiation therapy before or after resection are limited. This study aimed to report on popliteal fossa sarcomas analyzing data from two institutions based on a relatively large patient sample. MATERIAL AND METHODS Twenty-four patients (80%; 9 men and 15 women) with a popliteal fossa soft tissue sarcoma were included in this study. The reviewed patient data included sex, age, duration of complaints, interval to diagnosis, radiology, pre- and postoperative biopsy, tumor histology, surgery type, complications, and pre- and postoperative oncologic and functional outcomes. The minimum follow-up was 24 months. RESULTS The mean age of the patients was 48 ± 21.23 (range 3-72) years at the time of diagnosis. The mean follow-up was 41.79 ± 16.97 (range 24-120) months. The most common histological diagnoses were synovial sarcoma (6 patients), hemangiopericytoma (2 patients), soft tissue osteosarcoma (2 patients), unidentified fusiform cell sarcoma (2 patients), and myxofibrosarcoma (2 patients). Local recurrence after limb salvage was observed in six patients (26%). At the latest followup, 2 patients died of the disease, 2 patients were still alive with progressive lung disease and soft tissue metastasis, and the remaining 20 patients were free from the disease. CONCLUSIONS Microscopically positive margins may not be an absolute indication for amputation. Also, negative margins do not provide a guarantee that local recurrence will not occur. Lymph node or distant metastasis may be predictive factors for local recurrence rather than positive margins. Key words: fossa poplitea, sarcoma.
- MeSH
- dítě MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- nádory měkkých tkání * diagnóza chirurgie patologie MeSH
- předškolní dítě MeSH
- retrospektivní studie MeSH
- sarkom * diagnóza chirurgie MeSH
- senioři MeSH
- záchrana končetiny metody MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- MeSH
- diferenciální diagnóza MeSH
- gastrointestinální stromální tumory chirurgie diagnóza terapie MeSH
- lidé MeSH
- nádory měkkých tkání chirurgie diagnóza terapie MeSH
- osteosarkom chirurgie diagnóza terapie MeSH
- sarkom * chirurgie diagnóza terapie MeSH
- staging nádorů MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- přehledy MeSH
Východiská: Bifenotypový sinonazálny sarkóm (BFSS) je topograficky špecifický typ „low-grade“ sarkómu, ktorý bol prvýkrát opísaný len pred 10 rokmi. Označenie bifenotypový je odvodené z koexpresie markerov svalovej diferenciácie a derivátov neurálnej lišty, ktorá je pre tento nádor charakteristická. Opis prípadu: 78-ročná žena mala dlhodobo sťažené až nemožné dýchanie cez ľavý nosový priechod. Rinoendoskopické a CT vyšetrenie potvrdili obturáciu strednej a zadnej časti ľavej nosovej dutiny polypovitým tumorom so stopkou v etmoidoch, ktorý sa propagoval až do nosohltana. Tumor bol resekovaný a extrahovaný z nosohltana cez ústnu dutinu. Makroskopicky išlo o kompaktný polyp rozmerov 6 × 3,5 × 3 cm. Histologicky pozostával z uniformnej vretenobunkovej nádorovej populácie usporiadanej vo fascikulárnych formáciách, ktorá exprimovala proteín S100, hladkosvalový aktín, kalponín a svalovo-špecifický aktín. Molekulovogenetická analýza tkaniva odhalila fúziu génov PAX3:: MAML3. Nálezy potvrdzovali diagnózu BFSS. Záver: BFSS je veľmi zriedkavý, lokálne agresívne rastúci zhubný nádor bez metastatického potenciálu. V porovnaní s inými malignitami v danej lokalite má pomerne priaznivú prognózu. V bioptickej praxi je dôležitá znalosť patológa o tejto raritnej histopatologickej jednotke, na ktorú treba myslieť vždy pri náleze vretenobunkovej neoplázie s „low-grade“ črtami vyrastajúcej zo sinonazálnej oblasti.
Background: Biphenotypic sinonasal sarcoma (BFSS) is a topographically specific low-grade sarcoma that was first described only 10 years ago. The term biphenotypic comes from the co-expression of markers of muscle differentiation and neural crest that is characteristic for this tumor. Case: A 78-year-old woman manifested with prolonged breathing difficulties through the left nasal passage. Rhinoendoscopy and CT scans showed an obturation of the middle and posterior part of the left nasal cavity by a polypoid tumor mass with a stalk in the ethmoid sinus. It spread into the nasopharynx. The tumor was resected and extracted from the nasopharynx through the oral cavity. Grossly, it was a compact polyp measuring 6 × 3,5 × 3 cm. Histology revealed a uniform neoplastic spindle cell population arranged in a fascicular pattern. It expressed S100 protein, smooth muscle actin, calponin and muscle-specific actin. Molecular genetic analysis of the tissue showed PAX3:: MAML3 gene fusion. The findings confirmed a diagnosis of BFSS. Conclusion: BFSS is a very rare, locally aggressive malignant tumor without metastatic potential. In contrast to other malignancies in a given locality, it possesses a relatively favorable prognosis. In biopsy practice, the pathologist‘s knowledge of this unique histopathological entity is principal because it should be always considered when encountering a low-grade spindle cell neoplasia arising in the sinonasal region.
- MeSH
- lidé MeSH
- nádory měkkých tkání * diagnóza epidemiologie terapie MeSH
- následné studie MeSH
- sarkom * diagnóza epidemiologie terapie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- práce podpořená grantem MeSH
- směrnice pro lékařskou praxi MeSH
Neexistuje žádný univerzální imunohistochemický panel, který by byl v diagnostice nádorů měkkých tkání užitečný za každé situace. Přesto je možné doporučit základní sadu markerů, které jsou vhodné pro použití zejména u nepříliš charakteristických vřetenobuněčných lézí, kdy na základě morfologie nelze jednoznačně určit nejen konkrétní diagnózu, ale často ani směr diferenciace. V tomto přehledovém článku budou shrnuty poznatky o hlavních a letitou praxí osvědčených imunohistochemických markerech pro diagnostiku jednotlivých nádorových skupin v této části patologie se vyskytující: CD34, desmin, epiteliální membránový antigen, širokospektré cytokeratiny, S100 protein a hladkosvalový aktin. Dále bude diskutována problematika spojená jak s využitím imunohistochemického barvení s protilátkou MDM2, tak s metodou fluorescenční in situ hybridizace pro detekci amplifikace genu MDM2 v lipomatózních tumorech.
There is no universal immunohistochemical panel which would be useful for the diagnosis of soft tissue tumors in all circumstances. Nevertheless, especially when faced with an uncharacteristic spindle cell neoplasm, a basic immunohistochemical panel can be recommended consisting of CD34, desmin, epithelial membrane antigen, broad-spectrum cytokeratins, S100 protein and smooth muscle actin. This review will address the utility and pitfalls of this panel. The use of MDM2 immunohistochemistry and fluorescence in situ hybridization in the diagnosis of lipomatous tumors will be discussed as well.
- MeSH
- imunohistochemie metody MeSH
- lidé MeSH
- nádory měkkých tkání * diagnóza MeSH
- protoonkogenní proteiny c-mdm2 MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- přehledy MeSH
