Uterine sarcomas with KAT6B/A::KANSL1 fusion represent a new entity characterized by bland morphology, commonly with hybrid features of low-grade endometrial stromal sarcoma (LG-ESS) and tumors with smooth muscle differentiation. In our study, we performed a detailed morphological, immunohistochemical, and molecular analysis of 9 cases of these tumors. Six of those had been originally diagnosed as LG-ESS, one as leiomyoma, one as leiomyosarcoma, and the remaining case as sarcoma with the KAT6B/A::KANSL1 fusion. Seven cases showed overlapping features between endometrial stromal and smooth muscle tumors, one case resembled cellular leiomyoma, and one case resembled high-grade endometrial stromal sarcoma. Immunohistochemically, the tumors showed a common expression of smooth muscle markers and endometrial stromal markers. Molecular findings showed the KAT6B/A::KANSL1 fusion in all cases (by NGS and FISH). In addition, mutations affecting genes such as TP53, PDGFRB, NF1, RB1, PTEN, ATM, RB1, FANCD2, and TSC1 were present in all 5 cases with aggressive behavior. One patient with no evidence of disease showed no additional mutations, while another harbored a mutation of a single gene (ERCC3). Of the 8 patients with available follow-up, two died of disease, 3 are currently alive with disease, and 3 have no evidence of disease. The correct recognition of tumors with the KAT6B/A::KANSL1 fusion is essential because despite the bland morphological features of most cases, these tumors have a propensity for aggressive behavior.
- MeSH
- dospělí MeSH
- endometriální stromální sarkom genetika patologie MeSH
- fúzní onkogenní proteiny genetika MeSH
- histonacetyltransferasy genetika MeSH
- imunohistochemie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mutace MeSH
- nádorové biomarkery * genetika analýza MeSH
- nádory dělohy * patologie genetika MeSH
- sarkom genetika patologie MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
TFE3 rearrangements characterize histogenetically, topographically, and biologically diverse neoplasms. Besides being a universal defining feature in alveolar soft part sarcoma (ASPS) and clear cell stromal tumor of the lung, TFE3 fusions have been reported in subsets of renal cell carcinoma, perivascular epithelioid cell tumor (PEComa), epithelioid hemangioendothelioma and ossifying fibromyxoid tumors. TFE3 -related neoplasms are rare in the head and neck and may pose diagnostic challenges. We herein describe 22 TFE3 fusion neoplasms affecting 11 males and 11 females aged 4 to 79 years (median, 25) and involving different head and neck sites: sinonasal cavities (n = 8), tongue (n = 4), oral cavity/oropharynx (n = 3), salivary glands (n = 2), orbit (n = 2), and soft tissue or unspecified sites (n = 3). Based on morphology and myomelanocytic immunophenotype, 10 tumors qualified as ASPS, 7 as PEComas (3 melanotic; all sinonasal), and 5 showed intermediate (indeterminate) histology overlapping with ASPS and PEComa. Immunohistochemistry for TFE3 was homogeneously strongly positive in all cases. Targeted RNA sequencing/FISH testing confirmed TFE3 fusions in 14 of 16 successfully tested cases (88%). ASPSCR1 was the most frequent fusion partner in ASPS (4 of 5 cases); one ASPS had a rare VCP::TFE3 fusion. The 6 successfully tested PEComas had known fusion partners as reported in renal cell carcinoma and PEComas ( NONO, PRCC, SFPQ , and PSPC1 ). The indeterminate tumors harbored ASPSCR1::TFE3 (n = 2) and U2AF2::TFE3 (n = 1) fusions, respectively. This large series devoted to TFE3-positive head and neck tumors illustrates the recently proposed morphologic overlap in the spectrum of TFE3 -associated mesenchymal neoplasms. While all PEComas were sinonasal, ASPS was never sinonasal and occurred in diverse head and neck sites with a predilection for the tongue. The indeterminate (PEComa-like) category is molecularly more akin to ASPS but shows different age, sex, and anatomic distribution compared with classic ASPS. We report VCP as a novel fusion partner in ASPS and PSPC1 as a novel TFE3 fusion partner in PEComa (detected in one PEComa). Future studies should shed light on the most appropriate terminological subtyping of these highly overlapping tumors.
- MeSH
- alveolární sarkom měkkých tkání * genetika patologie MeSH
- dítě MeSH
- dospělí MeSH
- fenotyp MeSH
- genetická predispozice k nemoci MeSH
- genová přestavba * MeSH
- hybridizace in situ fluorescenční MeSH
- imunohistochemie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- nádorové biomarkery * genetika analýza MeSH
- nádory hlavy a krku * genetika patologie chemie MeSH
- nádory z perivaskulárních epiteloidních buněk * genetika patologie chemie MeSH
- předškolní dítě MeSH
- senioři MeSH
- transkripční faktory BHLH-Zip * genetika 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
AIMS: CIC-rearranged sarcomas (CRS) are clinically aggressive undifferentiated round cell sarcomas (URCS), commonly driven by CIC::DUX4. Due to the repetitive nature of DUX4 and the variability of the fusion breakpoints, CIC::DUX4 fusion may be missed by molecular testing. Immunohistochemical (IHC) stains have been studied as surrogates for the CIC::DUX4 fusion. We aim to assess the performance of DUX4 IHC in the work-up of CRS and its expression in non-CRS round cell or epithelioid neoplasms. METHODS AND RESULTS: Cases of molecularly confirmed CRS (n = 48) and non-CRS (n = 105) were included. CRS cases consisted of 35 females and 13 males, with ages ranging from less than 1 year to 67 years (median = 41 years). Among the molecularly confirmed non-CRS cases, C-terminal DUX4 expression was investigated in Ewing sarcomas (38 cases), alveolar rhabdomyosarcomas (18 cases), desmoplastic small round cell tumours (12 cases) and synovial sarcomas (n = five), as well as in non-mesenchymal neoplasms such as SMARCA4/SMARCB1-deficient tumours (n = five), carcinomas of unknown primary (n = three) and haematolymphoid neoplasms (four cases). DUX4 IHC was considered positive when strong nuclear expression was detected in more than 50% of neoplastic cells. When used as a surrogate for the diagnosis of CRS, the sensitivity and specificity of DUX4 IHC was 98 and 100%, respectively. Only one CRS case was negative for DUX4 IHC and harboured a CIC::FOXO4 fusion. CONCLUSIONS: DUX4 IHC is a highly sensitive and specific surrogate marker for the presence of CIC::DUX4 fusion, demonstrating its utility in establishing a diagnosis of CRS.
- MeSH
- dítě MeSH
- dospělí MeSH
- fúzní onkogenní proteiny * genetika MeSH
- genová přestavba MeSH
- homeodoménové proteiny * metabolismus genetika MeSH
- imunohistochemie * MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- nádorové biomarkery * metabolismus analýza genetika MeSH
- nádory měkkých tkání diagnóza patologie genetika metabolismus MeSH
- předškolní dítě MeSH
- sarkom * diagnóza patologie genetika metabolismus MeSH
- senioři MeSH
- senzitivita a specificita MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- kojenec 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
V článku referujeme troch pacientov, ktorí boli v priebehu posledných siedmych rokov operovaní v Centre hrudníkovej chirurgie Národného ústavu tuberkulózy pľúcnych chorôb a hrudníkovej chirurgie vo Vyšných Hágoch pre primárny malígny tumor krčného úseku trachey. U prvého pacienta išlo o extrémne zriedkavý primárny chondrosarkóm trachey, v ostatných dvoch prípadoch išlo o pacientov s primárnym adenoidne cystickým karcinómom trachey. Rozoberáme klinickú manifestáciu, ako aj stratégiu a výsledok chirurgickej a nechirurgickej onkologickej liečby. Prezentovanú tému považujeme za dôležitú, pretože primárne malígne nádory trachey sú zriedkavým ochorením a svojimi symptómami môžu imitovať časté benígne ochorenia dýchacích ciest. Táto skutočnosť môže spomaliť ich diagnostiku a oddialiť až znemožniť ich liečbu.
We report three patients who were operated on at the Centre for Thoracic Surgery of the National Institute for Tuberculosis, Lung Diseases and Thoracic Surgery in Vyšné Hágy for primary malignant tumour of the cervical segment of the trachea during the last seven years. The first patient had an extremely rare primary chondrosarcoma of the trachea, the other two cases were patients with primary adenoid cystic carcinoma of the trachea. We discuss the clinical presentation as well as the strategy and outcome of surgical and nonsurgical oncological treatment. We consider the presented topic important because primary malignant tracheal tumors are rare and their symptoms may mimic common benign airway diseases. This fact may slow down their diagnosis and delay or exclude their treatment.
- MeSH
- adenoidně cystický karcinom * chirurgie diagnostické zobrazování MeSH
- bronchoskopie MeSH
- chondrosarkom chirurgie diagnostické zobrazování MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory průdušnice * chirurgie diagnostické zobrazování MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Cíl: Přehled typů děložních sarkomů doplněný ilustrativní kazuistikou raritního děložního nádoru dětského věku. Kazuistika: Naše kazuistika popisuje případ 9leté dívky s nálezem 15cm tumoru v dutině břišní, který při klinickém vyšetření břišní stěny zprolaboval vaginálně před introitus a zapříčinil život ohrožující krvácení. Toto krvácení bylo zastaveno ligací stopky tumoru a jeho resekcí. Histologické vyšetření resekátu prokázalo mülleriánský adenosarkom dělohy. Na základě stagingu byla onkogynekologickou komisí indikována laparoskopická hysterektomie s bilaterální salpingektomií. Operační výkon proběhl bez komplikací, peroperačně byla diagnostikována kompletní inverze dělohy.
Objective: An overview of the types of uterine sarcoma, supplemented by an illustrative case report of a rare uterine childhood tumor. Case report: Our case report describes the case of a 9-year-old girl with a 15-cm tumor in the abdominal cavity, which prolapsed vaginally before introitus during a clinical examination of the abdominal wall causing life-threatening bleeding. This bleeding was stopped by ligation of the tumor pedicle and its resection. Histological examination of the resected specimen described Müllerian adenosarcoma of the uterus. Based on the staging, laparoscopic hysterectomy with bilateral salpingectomy was indicated by the oncogynecological committee. The operation was performed without complications, and intraoperatively, a complete inversion of the uterus was diagnosed.
- MeSH
- adenosarkom patologie MeSH
- diferenciální diagnóza MeSH
- dítě MeSH
- hemostáza chirurgická metody MeSH
- hysterektomie metody MeSH
- inverze dělohy diagnóza MeSH
- lidé MeSH
- nádory dělohy chirurgie patologie MeSH
- nádory děložního čípku * patologie MeSH
- salpingektomie MeSH
- sarkom * patologie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Endometrial stromal tumors are rare lesions with a diverse morphology, which may make achieving the correct diagnosis challenging in some cases. We report a case of a uterine mesenchymal tumor diagnosed as endometrial stromal nodule with a peculiar whorled morphology and GREB1::CTNNB1 fusion confirmed by transcriptome RNA sequencing. The tumor was sharply demarcated, lacked invasive growth, and had benign behavior, as the patient remained without disease recurrence 15 years later. Immunohistochemically, the tumor cells showed diffuse nuclear expression of beta-catenin, confirming the activation of the beta-catenin pathway. Our case represents only the 4th reported case of CTNNB1-rearranged endometrial stromal tumor with extensive whorling. The biological nature of uterine tumors characterized by whorled morphology and rearrangement of CTNNB1 is not yet clear, which underscores the importance of genetic profiling for accurate diagnosis and potential targeted therapies in malignant cases.
- MeSH
- beta-katenin * genetika MeSH
- endometriální stromální nádory * patologie genetika diagnóza MeSH
- fúzní onkogenní proteiny genetika MeSH
- genová přestavba MeSH
- imunohistochemie MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádorové biomarkery genetika analýza MeSH
- nádorové proteiny MeSH
- nádory endometria * genetika patologie diagnóza MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a cutaneous sarcoma with an infiltrative growth pattern that makes it challenging to clear margins. High quality data regarding DFSP natural history, management, and outcomes are limited. METHODS: Data were retrospectively collected for adult DFSP patients who underwent resection at 10 institutions in eight countries. Demographics, tumor characteristics, treatment strategies, and outcomes were analyzed. RESULTS: Analysis included 347 patients consisting of young (median, 42 years), White (76.2%), males (54.2%) with truncal lesions (57.3%). The majority (76.8%) were symptomatic at presentation. Preoperative imaging was used in 55.9% of cases. Diagnosis was established with excisional biopsy in 50.9% versus incisional biopsy in 25.0% of cases. Despite planned margins of >1.0 cm in 67.4% of cases, only 69.0% of patients achieved R0 resection. Twenty-two percent of patients underwent at least one re-excision. R0 resection was achieved at a second procedure in 80.2% and a third procedure in 86.2%. Ultimately, R0 resection was feasible in 89.5% of all patients. Fibrosarcomatous transformation (FST) was observed in 12.6%. In total, 6.6% (N = 23) recurred (17 local, six distant). Of the six distant recurrences, 50.0% had FST. With a median follow-up of 47.0 months, disease-specific survival rate was 98.8%. In multivariable analysis, R0 margins at index resection were associated with wider circumferential margins and non-FST histology. CONCLUSIONS: In this international, multicenter collaborative, DFSP practice patterns were heterogeneous but achieved favorable recurrence rates and survival. Multiple excisions to clear margins remain commonplace and can inform future efforts to optimize margin selection.
- MeSH
- dermatofibrosarkom * patologie chirurgie terapie mortalita MeSH
- dospělí MeSH
- internacionalita * MeSH
- lidé středního věku MeSH
- lidé MeSH
- lokální recidiva nádoru patologie MeSH
- mladiství MeSH
- mladý dospělý MeSH
- nádory kůže * patologie chirurgie mortalita terapie MeSH
- resekční okraje MeSH
- retrospektivní studie MeSH
- senioři MeSH
- výsledek terapie 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
- multicentrická studie MeSH
Sarkomy, maligní mezenchymální nádory, jsou raritní nádory vyskytující se jak v dětské, tak v dospělé populaci. Diferenciální diagnostika měkkotkáňových útvarů zahrnuje širokou škálu nádorů s různou klinickou manifestací a biologickým chováním. Klinické vyšetření povrchových ložisek je nedostatečné a často vede k podhodnocení rozsahu nemoci. Správná diagnostika a operační technika jsou klíčovými parametry k zamezení zbytečně excesivních resekčních výkonů u benigních nádorů, nebo naopak nedostatečně radikálních výkonů u maligních nádorů. Řada pacientů přichází k vyšetření pozdě. Neplánované chirurgické excize představují zásadní problém pro lokální kontrolu onemocnění. Cílem této práce je zvýšení povědomí odborné společnosti o problematice měkkotkáňových nádorů.
Sarcomas are rare malignant mesenchymal tumors, occurring both in the childhood and in adult population. The differential diagnosis of soft tissue lesions includes a wide range of tumors with different clinical manifestation and biological behaviour. Clinical examination of superficial lesions is insufficient and often leads to an underestimation of the extent of the disease. Correct diagnosis and operative technique are key parameters to avoid unnecessary excessive resections in benign tumors, or, on the contrary, non-radical procedures in malignant tumors. Many of the patients are examined late. Unplanned surgical resections represent a major problem in local control of the disease. The goal of this work is to increase the awareness of the medical professionals in the field of soft tissue tumors.
BACKGROUND: There is a paucity of data on treatment outcomes following stereotactic radiosurgery (SRS) for brain metastases from sarcoma primaries. METHODS: The International Radiosurgery Research Foundation member-sites were queried for patients with brain metastases from sarcoma primaries treated with SRS. Overall survival (OS) and local control (LC) were calculated via Kaplan-Meier analysis. Univariate analyses examined prognostic factors associated with LC and OS via log-rank t-tests and multivariate analyses (MVA) via Cox proportional hazards model. RESULTS: A total of 146 patients with 309 brain metastases were identified. Two-hundred and thirty lesions were treated with single-fraction SRS with a median dose of 20 Gy (15-24 Gy). Ninety-five patients had extracranial metastases, including 75 oligometastatic patients. One- and 2-year OS and LC rates were 47.7% and 37.3%, and 78.3% and 62.2%, respectively. On univariate analyses, superior 1-year OS was noted among leiomyosarcomas (69.7% vs. 42.6%; p = .02) with poorer outcomes among pleomorphic histologies (10.5% vs. 50.7%; p = .002). Pleomorphic histologies were associated with poorer OS on MVA (hazard ratio [HR], 3.13; p = .006). On MVA, LC was inferior among patients of age ≥45 years (HR, 3.78; p < .001) and superior among leiomyosarcomas (HR, 0.31; p = .03). OS was prognosticated based on adverse factors (ie, nonleiomyosarcoma histology and progressive extracranial metastases). Two-year OS for patients with and without adverse features were 78.6% and 31.5%, respectively. CONCLUSIONS: LC outcomes were driven by histology and age with superior LC among leiomyosarcomas and patients of age <45 years. OS was driven by nonleiomyosarcoma histology and the presence of progressive extracranial disease.
- MeSH
- dospělí MeSH
- Kaplanův-Meierův odhad MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- nádory mozku * sekundární radioterapie mortalita chirurgie MeSH
- prognóza MeSH
- radiochirurgie * metody MeSH
- retrospektivní studie MeSH
- sarkom * patologie mortalita radioterapie sekundární MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- výsledek terapie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
Rhabdomyosarcoma is a highly malignant mesenchymal tumor growing out of the primitive mesenchyme, which is (usually) differentiated into predominantly striated skeletal muscle. It is the most common soft tissue sarcoma in childhood, with a predilection site that occurs in the head and neck area. Multimodal approaches in treatment include surgery, chemotherapy, and radiotherapy. We present a case of a 6-year- old girl with a history of nasal obstruction and mucus secretion more on the left side, with loss of smell and headache above the left eye. Through clinical examination, a pink tumor was detected in the left nasal cavity. CT and MRI were complemented and showed a tumor mass filling the entire nasopharynx, propagated into the left sphenoid cavity, to the clivus, and to the prevertebral space; the tumor mass completely obturated both choanae. The patient underwent endoscopic endonasal resection of the skull base tumor using CT navigation. Embryonal rhabdomyosarcoma has been confirmed. In the postoperative period, the patient underwent adjuvant oncology treatment, and control biopsies at 2 and 16 months after surgery were negative. The patient is now three years after surgery - clinically free of signs of tumor recurrence. Conclusion: Rhabdomyosarcoma, like other tumors in the skull base region, is a challenge for the surgeon due to the location in which complete resection of the tumor is sometimes very difficult or impossible. Meticulous preoperative analysis of imaging examinations, as well as intraoperative use of CT/MRI navigation, make this possible. Complete removal of the tumor increases the patient‘s chance for successful treatmet.
Rhabdomyosarkóm je vysoko malígny mezenchymálny nádor, ktorý vyrastá z primitívneho mezenchýmu, ktorý sa normálne diferencuje prevažne na priečne pruhované kostrové svalstvo. Ide o najčastejší mäkkotkanivový sarkóm v detskom veku s preferovaným výskytom v oblasti hlavy a krku. Multimodálny prístup v liečbe zahŕňa chirurgiu, chemoterapiu a rádioterapiu. Predstavujeme prípad 6-ročného dievčaťa s anamnézou nosovej obštrukcie a hlienovej sekrécie viac na ľavej strane, so stratou čuchu a bolesťou hlavy nad ľavým okom. Pri klinickom vyšetrení bol zistený ružový nádor v ľavej nosovej dutine. Doplnené boli CT a MR vyšetrenia, ktoré ukázali nádorovú masu vypĺňajúcu celý nosohltan, s expanziou do ľavej klinovej dutiny, ku klivu a do prevertebrálneho priestoru. Nádorová masa kompletne uzatvárala obe choány. Pacientka podstúpila endoskopickú endonazálnu resekciu nádoru v oblasti prednej bázy lebky s využitím CT navigácie. Bol potvrdený embryonálny rhabdomyosarkóm. V pooperačnom období pacientka podstúpila adjuvantnú onkologickú liečbu, kontrolné bio psie 2 a 16 mesiacov po operácii boli negatívne. Pacientka je momentálne 3 roky po operácii – klinicky bez známok recidívy nádoru. Záver: Rhabdomyosarkóm, podobne ako iné nádory v oblasti prednej bázy lebky, predstavuje výzvu pre chirurga vzhľadom na lokalizáciu, v ktorej je úplná resekcia nádoru niekedy veľmi náročná alebo nemožná. Dôkladná predoperačná analýza zobrazovacích vyšetrení ako aj intraoperačné využitie CT/MR navigácie to umožňujú. Kompletné odstránenie nádoru zvyšuje šancu pacienta na úspešnú liečbu.
- MeSH
- dítě MeSH
- embryonální rhabdomyosarkom * chirurgie diagnostické zobrazování diagnóza farmakoterapie MeSH
- endoskopie metody MeSH
- lidé MeSH
- nádory hlavy a krku diagnostické zobrazování diagnóza klasifikace MeSH
- nosní obstrukce etiologie MeSH
- rhabdomyosarkom chirurgie diagnostické zobrazování diagnóza farmakoterapie MeSH
- zadní jáma lební * chirurgie patologie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH