This article presents 2 cases of TFG::MET-rearranged mesenchymal tumor, an extremely rare molecular subset among an emerging group of mesenchymal neoplasms with kinase gene (NTRK, BRAF, RET and others) alterations. Both tumors were congenital, occurred in female patients and presented as huge masses on the trunk and thigh, measuring 18 and 20 cm in the largest dimension. Both cases showed identical areas with a distinctive triphasic morphology resembling fibrous hamartoma of infancy (FHI), consisting of haphazardly arranged ovoid to spindled cells traversed by variably cellular and hyalinized fascicles admixed with (most likely non-neoplastic) adipose tissue. In other areas, a high-grade infantile fibrosarcoma/malignant peripheral nerve sheath tumor-like (IFS/MPNST-like) morphology was present in both cases. While the first case co-expressed CD34 and S100 protein, the other case did not. When combined with the three previously reported MET-rearranged cases (of which two harbored TFG::MET fusion), 3/5 and 3/4 of MET-rearranged and TFG::MET fusion-associated tumors, respectively exhibited similar triphasic FHI-like low-grade morphology. This points toward the existence of a relatively distinct morphological subset among kinase-fusion-associated tumors which seems to be strongly associated with MET fusions. It seems some of these low-grade cases may transform into a high-grade variant with IFS/MPNST-like morphology as has been observed in other tumors with kinase gene fusions. While most cases seem to follow an indolent clinical course, the recognition of these tumors is clinically relevant as MET tyrosine kinase inhibitors might represent an effective treatment option for clinically aggressive or unresectable cases.
- MeSH
- fibrosarkom * genetika MeSH
- fúze genů MeSH
- lidé MeSH
- nádorové biomarkery genetika MeSH
- nádory kůže * MeSH
- nádory měkkých tkání * genetika patologie MeSH
- nádory z pojivové a měkké tkáně * MeSH
- neurofibrosarkom * MeSH
- proteiny genetika MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Soft tissue sarcomas are aggressive mesenchymal-origin malignancies. Undifferentiated pleomorphic sarcoma (UPS) belongs to the aggressive, high-grade, and least characterized sarcoma subtype, affecting multiple tissues and metastasizing to many organs. The treatment of localized UPS includes surgery in combination with radiation therapy. Metastatic forms are treated with chemotherapy. Immunotherapy is a promising treatment modality for many cancers. However, the development of immunotherapy for UPS is limited due to its heterogeneity, antigenic landscape variation, lower infiltration with immune cells, and a limited number of established patient-derived UPS cell lines for preclinical research. In this study, we established and characterized a novel patient-derived UPS cell line, JBT19. The JBT19 cells express PD-L1 and collagen, a ligand of the immune checkpoint molecule LAIR-1. JBT19 cells can form spheroids in vitro and solid tumors in immunodeficient nude mice. We found JBT19 cells induce expansion of JBT19-reactive autologous and allogeneic NK, T, and NKT-like cells, and the reactivity of the expanded cells was associated with cytotoxic impact on JBT19 cells. The PD-1 and LAIR-1 ligand-expressing JBT19 cells show ex vivo immunogenicity and effective in vivo xenoengraftment properties that can offer a unique resource in the preclinical research developing novel immunotherapeutic interventions in the treatment of UPS.
- MeSH
- antigeny CD274 metabolismus MeSH
- buněčné linie MeSH
- imunoterapie MeSH
- lidé MeSH
- ligandy MeSH
- maligní fibrózní histiocytom * MeSH
- myši nahé MeSH
- myši MeSH
- sarkom * patologie MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- myši MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem 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
Renomedulární tumor z intersticiálních buněk je poměrně častý benigní renální nádor, který obvykle dosahuje malých rozměrů. Kazuistika popisuje náhodně zachycený renomedulární tumor velikosti 2,5 cm, na CT vyšetření vzhledu komplikované cysty. Kazuistika dále shrnuje charakteristické rysy a diferenciální diagnostiku renomedulárního tumoru na základních zobrazovacích vyšetřeních a při histologickém vyšetření.
Renomedullary interstitial cell tumor represents a relatively common benign renal tumor mostly with small size. This case report describes an incidental finding of renomedullary tumor of 2.5 cm with appearance of complicated cyst on CT examination. The article also summarises characteristic features and differential diagnostics of renomedullary tumor in common imaging methods and histopathological examination.
This paper describes the evaluation options of Dupuytren's contracture by subjective and objective methods. There are various classification schemes named after their authors, including graphical representation for objective evaluation of the disease. Subjective assessment was performed in the form of a questionnaire for patients. The QuickDASH with a small specification for Dupuytren's contracture is the most commonly used questionnaire. The Southampton Dupuytren's Scoring Scheme questionnaire appears to be a higher specification. The classifications allow evaluation of treatment success to determine prognosis of the disease. The analysis of articles is based on PubMed search from the years 1967–2022, with 28 relevant articles were retrieved. Based on this analysis, the Tubiana classification appears to be the most appropriate one for patients with Dupuytren's contracture. Of patient questionnaires, the Southampton Dupuytren's Scoring Scheme meets these parameters.
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
Článok referuje troch pacientov so solitárnym fibróznym tumorom hrudníka. Prvý pacient mal nádor v oblasti kupoly pravej pohrudnicovej dutiny, ktorý bol radikálne resekovaný spolu s hrudníkovou stenou v okolí jeho origa. V druhom prípade išlo o nádor fixovaný cievnou stopkou k dolnému laloku pravých pľúc. Tento nádor bol resekovaný atypicky, cestou torakotómie, spolu s bezpečnostným lemom zdravého pľúcneho tkaniva v oblasti bázy jeho stopky. Posledný pacient mal nádor dolného laloka pravých pľúc, ktorý obklopoval dolnú pľúcnu žilu a miestami nemal zreteľnú hranicu so zdravým pľúcnym tkanivom. Nález si vyžiadal dolnú lobektómiu pravých pľúc cestou posterolaterálnej torakotómie. Kazuistiky poukazujú na zriedkavý typ nádorov v oblasti hrudníka, ktoré v čase zistenia dosahujú často veľké rozmery, nútiace k rozsiahlym operačným výkonom. Vzhľadom k biologickej povahe týchto nádorov, je vhodné daných pacientov dlhodobo dispenzarizovať.
The article reports on three patients with a solitary fibrous tumor of the chest. The first patient had a tumor in the area of the dome of the right pleural cavity which was radically resected together with the chest wall around its origin. In the second case, the tumor was attached by a vascular pedicle to the lower lobe of the right lung. This tumor was resected atypically, via thoracotomy, along with a margin of healthy lung tissue at the base of its pedicle. The last patient had a tumor of the lower lobe of the right lung, surrounding the lower pulmonary vein, which did not have a clear margin of healthy lung tissue. This finding required right lower lobectomy via posterolateral thoracotomy. The presented cases describe rare types of tumors in the chest area which at the time of detection often reach large dimensions, necessitating extensive surgical procedures. Due to the biological nature of these tumors, long-term patient follow-up is advisable.
- MeSH
- dospělí MeSH
- dyspnoe etiologie MeSH
- hrudník diagnostické zobrazování patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory pleury chirurgie diagnostické zobrazování patologie MeSH
- nádory plic chirurgie diagnostické zobrazování patologie MeSH
- pleurální dutina chirurgie diagnostické zobrazování patologie MeSH
- počítačová rentgenová tomografie MeSH
- senioři MeSH
- solitární fibrózní tumory * chirurgie diagnostické zobrazování patologie MeSH
- výsledek terapie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- senioři MeSH
- Publikační typ
- kazuistiky MeSH
- Geografické názvy
- Slovenská republika MeSH
Lipoblastoma-like tumor (LLT) is a benign soft tissue tumor demonstrating mixed morphologic features of lipoblastoma, myxoid liposarcoma, and spindle cell lipoma but lacking genetic alterations associated with those tumors. LLT was originally thought to be specific to the vulva but has since been reported in the paratesticular region. The morphologic features of LLT overlap with those of "fibrosarcoma-like lipomatous neoplasm" (FLLN), a rare, indolent adipocytic neoplasm considered by some to form part of the spectrum of atypical spindle cell and pleomorphic lipomatous tumor. We compared the morphologic, immunohistochemical, and genetic features of 23 tumors previously classified as LLT (n = 17) and FLLN (n = 6). The 23 tumors occurred in 13 women and 10 men (mean age, 42 years; range, 17 to 80 years). Eighteen (78%) cases arose in the inguinogenital region, whereas 5 tumors (22%) involved noninguinogenital soft tissue, including the flank (n = 1), shoulder (n = 1), foot (n = 1), forearm (n = 1), and chest wall (n = 1). Microscopically, the tumors were lobulated and septated, with variably collagenized fibromyxoid stroma, prominent thin-walled vessels, scattered univacuolated or bivacuolated lipoblasts, and a minor component of mature adipose tissue. Using immunohistochemistry, 5 tumors (42%) showed complete RB1 loss, with partial loss in 7 cases (58%). RNA sequencing, chromosomal microarray, and DNA next-generation sequencing study results were negative for significant alterations. There were no clinical, morphologic, immunohistochemical, or molecular genetic differences between cases previously classified as LLT or FLLN. Clinical follow-up (11 patients [48%]; range, 2-276 months; mean, 48.2 months) showed all patients were alive without disease, and only one patient had experienced a single local recurrence. We conclude that LLT and FLLN represent the same entity, for which "LLT" seems most appropriate. LLT may occur in either sex and any superficial soft tissue location. Careful morphologic study and appropriate ancillary testing should allow for the distinction of LLT from its potential mimics.
- MeSH
- dospělí MeSH
- fibrosarkom * MeSH
- lidé MeSH
- lipoblastom * genetika MeSH
- lipom * genetika patologie MeSH
- liposarkom * genetika MeSH
- molekulární biologie MeSH
- myxoidní liposarkom * MeSH
- nádorové biomarkery genetika MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
BACKGROUND: Solitary fibrous tumour of the liver is a rare mesenchymal tumour, occurring usually in women and with various symptomatology. The symptoms mostly result from pressure of the tumour mass on surrounding organs. Due to unknown biological behaviour and gradual increase of tumour volume, surgical resection is mostly the preferred treatment option. CASE: A 75-year-old woman with a history of endometrial cancer, presenting with an incidental finding of a liver mass, initially considered of infectious origin (either echinococcosis or cysticercosis). Further diagnostics did not clarify the aetiology, a surgical revision was rejected at the time. The subsequent follow-up was interrupted by the development of symptoms of gastrointestinal and renal obstruction, which led to a complete surgical removal of the tumour, sized 30 × 25 × 20 cm. A histopathological examination showed a CD34 and STAT6 positivity, leading to a diagnosis of a giant solitary fibrous tumour of the liver. The patient recovered well, without any signs of recurrence. CONCLUSION: The solitary fibrous tumour of the liver is a rare, often incidental finding. It is considered benign, but malignant growth was also reported. A gradual growth mostly results in pressure on other organs. A surgical resection is the treatment of choice. Transarterial embolization is another treatment possibility. Due to indeterminate malignant potential a regular follow-up is necessary, including tumour markers and imaging methods.
- MeSH
- játra patologie MeSH
- lidé MeSH
- nádorové biomarkery MeSH
- senioři MeSH
- solitární fibrózní tumory * diagnóza chirurgie patologie MeSH
- transkripční faktor STAT6 MeSH
- Check Tag
- lidé MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
