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
AIMS: Spindle-cell/sclerosing rhabdomyosarcomas (SS-RMS) are clinically and genetically heterogeneous. They include three well-defined molecular subtypes, of which those with EWSR1/FUS::TFCP2 rearrangements were described only recently. This study aimed to evaluate five new cases of SS-RMS and to perform a clinicopathological and statistical analysis of all TFCP2-rearranged SS-RMS described in the English literature to more comprehensively characterize this rare tumour type. METHODS AND RESULTS: Cases were retrospectively selected and studied by immunohistochemistry, fluorescence in situ hybridization with EWSR1/FUS and TFCP2 break-apart probes, next-generation sequencing (Archer FusionPlex Sarcoma kit and TruSight RNA Pan-Cancer Panel). The PubMed database was searched for relevant peer-reviewed English reports. Five cases of SS-RMS were found. Three cases were TFCP2 rearranged SS-RMS, having FUSex6::TFCP2ex2 gene fusion in two cases and triple gene fusion EWSR1ex5::TFCP2ex2, VAX2ex2::ALKex2 and VAX2intron2::ALKex2 in one case. Two cases showed rhabdomyoblastic differentiation and spindle-round cell/sclerosing morphology, but were characterized by novel genetic fusions including EWSR1ex8::ZBTB41ex7 and PLOD2ex8::RBM6ex7, respectively. In the statistical analysis of all published cases, CDKN2A or ALK alterations, the use of standard chemotherapy and age at presentation in the range of 18-24 years were negatively correlated to overall survival. CONCLUSION: EWSR1/FUS::TFCP2-rearranged SS-RMS is a rare rhabdomyosarcoma subtype, affecting predominantly young adults with average age at presentation 34 years (median 29.5 years; age range 7-86 years), with a predilection for craniofacial bones, rapid clinical course with frequent bone and lung metastases, and poor prognosis (3-year overall survival rate 28%).
- MeSH
- dítě MeSH
- DNA vazebné proteiny genetika MeSH
- dospělí MeSH
- fúze genů MeSH
- hybridizace in situ fluorescenční MeSH
- lidé středního věku MeSH
- lidé MeSH
- lysinhydroxylasa genetika MeSH
- mladiství MeSH
- mladý dospělý MeSH
- nádorové biomarkery genetika MeSH
- protein EWS vázající RNA genetika MeSH
- proteiny vázající RNA genetika MeSH
- retrospektivní studie MeSH
- rhabdomyosarkom * genetika patologie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- transkripční faktory * genetika MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Interlabiální tumor je u novorozených dívek dia gnostikován v prvních dnech, resp. týdnech života. Vyskytuje se s prevalencí 1: 500 až 1: 7 000 novorozených dívek. Tumor ve vaginálním introitu, resp. mezi velkými stydkými pysky může způsobit dia gnostické obtíže nebo vytvářet dojem genitálu nejasného pohlaví. Interlabiální útvary různé etiologie jsou si svým vzhledem podobné, což může vést k diferenciálně-dia gnostickým omylům. Nejčastější příčinou interlabiálního tumoru jsou u novorozených dívek hymenální a parauretrální cysty, které se projevují jako tenkostěnné kulovité útvary vyplněné zlatavě zbarvenou tekutinou. V případě cystického interlabiálního útvaru je nutné vyloučit zejména atrezii hymenu s hydrokolpos a prolaps ektopické ureterokély. V diferenciální dia gnostice je nutné pomyslet na prolaps uretry, rhabdomyosarkom pochvy a děložního hrdla, uretrální či vaginální polyp a u novorozence extrémně vzácný prolaps dělohy a poševních stěn nebo duplikaturu rekta. Novorozené dívky s interlabiálně lokalizovaným tumorem by měly být podle klinického nálezu vyšetřeny pediatrem, gynekologem, chirurgem nebo urologem. V závislosti na etiologii interlabiálního útvaru je možné zvolit expektační postup nebo chirurgickou léčbu. Včasná operace může zejména v případě hydrokolpos a prolapsu ektopické ureterokély zabránit obstrukci dolních močových cest a z toho plynoucímu zdraví ohrožujícímu poškození ledvin.
: An interlabial mass in newborn girls is diagnosed usually after birth or during the first days or weeks of life. According to various studies, its prevalence ranges between 1 : 500 and 1 : 7,000 newborn girls. A mass in the vaginal introitus or between the labia majora can cause a diagnostic dilemma and may be suspected even of ambiguous genitalia. Interlabial masses of different etiologies present clinically similar, and therefore, can be misdiagnosed. The most common causes of an interlabial mass in a newborn are hymenal and paraurethral cysts, both of which present as thin-walled spherical formations filled with golden fluid. When diagnosing a cystic interlabial tumor, it is necessary to particularly exclude a non-perforated hymen with hydrocolpos and prolapse of an ectopic ureterocele. In the differential diagnosis, prolapse of the urethra, rhabdomyosarcoma of the vagina or cervix, urethral or vaginal polyps, and extremely rare conditions such as genital prolapse or duplicate rectum cannot be omitted. A newborn girl with an interlabial formation should be examined by a pediatrician, gynecologist, surgeon, or urologist depending on the nature of the clinical findings. Once the etiology of an interlabial mass is identified, expectant management or surgery should be chosen. Early surgical treatment of hydrocolpos and prolapse of a ureterocele can prevent lower urinary tract obstruction and life-threatening renal damage.
- Klíčová slova
- interlabiální tumor,
- MeSH
- cysty diagnóza klasifikace vrozené MeSH
- diferenciální diagnóza MeSH
- gynekologická onemocnění diagnóza klasifikace vrozené MeSH
- hydrokolpos diagnóza etiologie patologie MeSH
- lidé MeSH
- nemoci pohlavních orgánů * diagnóza klasifikace vrozené MeSH
- novorozenec MeSH
- prolaps MeSH
- rhabdomyosarkom diagnóza klasifikace MeSH
- vagina abnormality patologie MeSH
- Check Tag
- lidé MeSH
- novorozenec MeSH
- ženské pohlaví MeSH
- Publikační typ
- přehledy MeSH
BACKGROUND: The authors report the prospective evaluation of reduced dose alkylator chemotherapy combined with radiotherapy for European Pediatric Soft Tissue Sarcoma Study Group (EpSSG) standard risk nonalveolar rhabdomyosarcoma (NA-RMS). PATIENTS AND METHODS: Localized node negative Intergroup Rhabdomyosarcoma Study (IRS) II/III NA-RMS at favorable sites (subgroup C), <25 years old, received five cycles of ifosfamide, vincristine, and dactinomycin (IVA) chemotherapy (30 g/m2 ifosfamide) and four cycles of vincristine and dactinomycin (if receiving radiotherapy), or nine cycles of IVA (54 g/m2 ifosfamide) ± radiotherapy. Delayed primary tumor excision was considered for IRS III tumors. The primary end points were event-free survival (EFS) and overall survival (OS). RESULTS: From October 2005 to December 2016, 359 evaluable patients were recruited: orbit, 164 (45.7%); head and neck nonparameningeal, 77 (21.4%); and genitourinary non-bladder/prostate, 118 (32.9%). EFS and OS were 77.4% (95% confidence interval [CI], 72.5-81.6) and 93.5% (95% CI, 90.1-95.8), respectively. Lower dose alkylator chemotherapy and radiotherapy achieved 5-year OS of 93.7% but the difference with higher dose alkylator chemotherapy +/- radiotherapy was not significant (p = 0.8003). Adjuvant radiotherapy improved EFS with 5-year estimates of 84.7% versus 65.2% for nonirradiated (p < .0001), but not OS (p = .9298). Omitting radiotherapy for orbital tumors reduced OS (5-year was 87.1% vs. 97.3% for irradiated, p = .0257). Following R0 resection (n = 60), radiotherapy did not significantly improve EFS or OS. CONCLUSIONS: Radiotherapy for local tumor control allows for reduction of cumulative dose of alkylators in EpSSG standard risk subgroup C RMS patients. The omission of radiotherapy did not affect OS in all patients except those with orbital RMS and was associated with inferior EFS.
- MeSH
- daktinomycin * aplikace a dávkování terapeutické užití MeSH
- dítě MeSH
- ifosfamid * aplikace a dávkování MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- předškolní dítě MeSH
- prospektivní studie MeSH
- protokoly protinádorové kombinované chemoterapie * terapeutické užití MeSH
- rhabdomyosarkom * radioterapie terapie mortalita chirurgie farmakoterapie MeSH
- vinkristin * aplikace a dávkování terapeutické užití MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- Geografické názvy
- Evropa MeSH
Rhabdomyosarcoma (RMS) of the urinary bladder in adults and elderly is an exceptionally rare neoplasm that displays poorly differentiated solid (alveolar-like) small cell pattern, frequently indistinguishable from small cell neuroendocrine carcinoma (SCNEC). However, the histogenesis of RMS and SCNEC and their inter-relationship have not been well studied and remained controversial. We herein analyzed 23 SCNEC and 3 small round cell RMS of the bladder for neuroendocrine (synaptophysin + chromogranin A) and myogenic (desmin + myogenin) marker expression and for TERT promoter mutations. In addition, the RMS cohort and one SCNEC that was revised to RMS were tested for gene fusions using targeted RNA sequencing (TruSight Illumina Panel which includes FOXO1 and most of RMS-related other genes). Overall, significant expression of myogenin and desmin was observed in one of 23 original SCNEC justifying a revised diagnosis to RMS. On the other hand, diffuse expression of synaptophysin was noted in 2 of the 4 RMS, but chromogranin A was not expressed in 3 RMS tested. TERT promoter mutations were detected in 15 of 22 (68%) SCNEC and in two of three (67%) assessable RMS cases, respectively. None of the four RMS cases had gene fusions. Our data highlights phenotypic and genetic overlap between SCNEC and RMS of the urinary bladder. High frequency of TERT promoter mutations in SCNEC is in line with their presumable urothelial origin. In addition, the presence of TERT promoter mutation in 2 of 3 RMS and lack of FOXO1 and other gene fusions in all 4 RMSs suggest a mucosal (urothelial) origin, probably representing extensive monomorphic rhabdomyoblastic transdifferentiation in SCNEC.
- MeSH
- buněčná diferenciace MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- malobuněčný karcinom * genetika patologie MeSH
- mutace MeSH
- nádorové biomarkery * genetika analýza MeSH
- nádory močového měchýře * patologie genetika MeSH
- neuroendokrinní karcinom * patologie genetika MeSH
- rhabdomyosarkom * genetika patologie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- telomerasa genetika MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- srovnávací studie MeSH
Rhabdomyosarcomas (RMS) constitute a heterogeneous spectrum of tumors with respect to clinical behavior and tumor morphology. The paternal uniparental disomy (pUPD) of 11p15.5 is a molecular change described mainly in embryonal RMS. In addition to LOH, UPD, the MLPA technique (ME030kit) also determines copy number variants and methylation of H19 and KCNQ1OT1 genes, which have not been systematically investigated in RMS. All 127 RMS tumors were divided by histology and PAX status into four groups, pleomorphic histology (n = 2); alveolar RMS PAX fusion-positive (PAX+; n = 39); embryonal RMS (n = 70) and fusion-negative RMS with alveolar pattern (PAX-RMS-AP; n = 16). The following changes were detected; negative (n = 21), pUPD (n = 75), gain of paternal allele (n = 9), loss of maternal allele (n = 9), hypermethylation of H19 (n = 6), hypomethylation of KCNQ1OT1 (n = 6), and deletion of CDKN1C (n = 1). We have shown no difference in the frequency of pUPD 11p15.5 in all groups. Thus, we have proven that changes in the 11p15.5 are not only specific to the embryonal RMS (ERMS), but are often also present in alveolar RMS (ARMS). We have found changes that have not yet been described in RMS. We also demonstrated new potential diagnostic markers for ERMS (paternal duplication and UPD of whole chromosome 11) and for ARMS PAX+ (hypomethylation KCNQ1OT1).
- MeSH
- dítě MeSH
- lidé MeSH
- nádory ledvin MeSH
- nádory močového měchýře MeSH
- retroperitoneální nádory MeSH
- rhabdomyosarkom MeSH
- testikulární nádory MeSH
- urogenitální nádory * MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- přehledy MeSH
Clinical trials frequently include multiple end points that mature at different times. The initial report, typically based on the primary end point, may be published when key planned co-primary or secondary analyses are not yet available. Clinical Trial Updates provide an opportunity to disseminate additional results from studies, published in JCO or elsewhere, for which the primary end point has already been reported.The RMS2005 study included two phase III randomized trials for high-risk (HR) and observational trials for low (LR), standard (SR), and very high-risk (VHR) patients who have been partially reported. Herein, we present a comprehensive report of results achieved for the complete unselected nonmetastatic cohort and analyze the evolution of treatment in comparison with previous European protocols. After a median follow-up of 73.1 months, the 5-year event-free survival (EFS) and overall survival (OS) of the 1,733 patients enrolled were 70.7% (95% CI, 68.5 to 72.8) and 80.4% (95% CI, 78.4 to 82.3), respectively. The results by subgroup: LR (80 patients) EFS 93.7% (95% CI, 85.5 to 97.3), OS 96.7% (95% CI, 87.2 to 99.2); SR (652 patients) EFS 77.4% (95% CI, 73.9 to 80.5), OS 90.6% (95% CI, 87.9 to 92.7); HR (851 patients) EFS 67.3% (95% CI, 64.0 to 70.4), OS 76.7% (95% CI, 73.6 to 79.4); and VHR (150 patients) EFS 48.8% (95% CI, 40.4 to 56.7), OS 49.7% (95% CI, 40.8 to 57.9). The RMS2005 study demonstrated that 80% of children with localized rhabdomyosarcoma could be long-term survivors. The study has established the standard of care across the European pediatric Soft tissue sarcoma Study Group countries with the confirmation of a 22-week vincristine/actinomycin D regimen for LR patients, the reduction of the cumulative ifosfamide dose in the SR group, and for HR disease, the omission of doxorubicin and the addition of maintenance chemotherapy.
- MeSH
- daktinomycin MeSH
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- přežití bez známek nemoci MeSH
- protokoly protinádorové kombinované chemoterapie terapeutické užití MeSH
- rhabdomyosarkom * farmakoterapie MeSH
- sarkom * patologie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- Publikační typ
- časopisecké články MeSH
- klinické zkoušky MeSH
- práce podpořená grantem MeSH
We report a case of a 67-year-old male patient with a sinonasal tumor that showed areas of classic biphenotypic sinonasal sarcoma (BSNS) which in some sections sharply transitioned into high-grade rhabdomyosarcoma. Immunohistochemically, the conventional BSNS parts showed S100 protein, SMA, PAX7, and focal MyoD1 expression, whereas desmin and myogenin were negative. In contrast, the cells in high-grade areas expressed desmin, MyoD1, myogenin, and PAX7, while being negative for S100 protein and SMA. Using the Archer FusionPlex assay, the classical PAX3::MAML3 gene fusion was detected. FISH for PAX3 and MAML3 confirmed a break of these genes in both components. Despite aggressive therapy, the tumor progression resulted in the patient's death. The herein presented case, together with 2 previously published cases of BSNS with high-grade transformation, helps to better understand this novel phenomenon. Although the risk for such transformation appears low, it has important clinical and diagnostic implications which are discussed.
- MeSH
- alveolární rhabdomyosarkom * MeSH
- desmin MeSH
- imunohistochemie MeSH
- lidé středního věku MeSH
- lidé MeSH
- myogenin MeSH
- nádorové biomarkery genetika MeSH
- nádory měkkých tkání * genetika MeSH
- nádory vedlejších dutin nosních * patologie MeSH
- proteiny S100 MeSH
- rhabdomyosarkom * genetika MeSH
- sarkom * genetika MeSH
- trans-aktivátory MeSH
- transkripční faktor PAX3 genetika MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
PROCEDURE: Congenital rhabdomyosarcoma (RMS) represents a challenging disease due to its characteristics and the difficulties in delivering treatment in this immature population. METHODS: We analyzed treatment and outcome of patients with congenital RMS, defined as tumor diagnosed in the first 2 months of life, enrolled in the European paediatric Soft tissue sarcoma Study Group protocols. RESULTS: Twenty-four patients with congenital RMS were registered. All, except one patient (PAX3-FOXO1-positive metastatic RMS), had favorable histology and localized disease. Three patients had VGLL2-CITED2/NCOA2 fusion. Complete tumor resection was achieved in 10 patients. No radiotherapy was given. Chemotherapy doses were adjusted to age and weight. Only two patients required further dose reduction for toxicity. The 5-year event-free survival (EFS) and overall survival (OS) were 75.0% (95% confidence interval [CI] 52.6-87.9) and 87.3% (95% CI 65.6-95.7), respectively. Progressive disease was the main cause of treatment failure. CONCLUSION: Patients with congenital RMS presented with a favorable disease, allowing weight- and age-adjusted doses of chemotherapy and avoidance of irradiation, without compromising the outcome.
