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
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
Both musculoskeletal gossypibomas and chronic expanding hematomas have been rarely reported; the reports that do exist are usually case reports. Our objective is to demonstrate problematic imaging diagnostics of an unusual presentation mimicking a malignant lesion. We report the case of a 47-year-old man who underwent bone graft harvesting from the iliac crest for spinal fusion due to scoliosis at 18 years of age, and 29 years later, he developed a growing, painful tumor at the original donor site (a bone defect in the iliac crest). It was challenging to differentiate a hematoma from a malignant tumor based solely on clinical and radiological workup, including an ultrasound-guided needle biopsy focused on viable tissue. The definitive diagnosis of a gossypiboma with a chronic expanding hematoma was based on histopathological assessment after wide surgical resection-a chronic expanding hematoma with multiple foamy macrophages and giant cells engulfing foreign material (original surgical hemostatic sponge).
- Publikační typ
- časopisecké články MeSH
Pyoderma gangrenosum (PG) je vzácné onemocnění ze skupiny neutrofilních dermatóz, které může být prognosticky závažnou komorbiditou revmatoidní artritidy. Dominantní klinickou manifestací jsou primárně abakteriální kožní ulcerace s nepravidelným, indurovaným a fialově zabarveným okrajem (zvl. trup/DK). Předmětem případové studie je závažná forma PG u 73letého muže, která kompletně splňuje poslední verzi (2017) diagnostických kritérií PG a navíc má tyto zvláštnosti: (a) paralelní klinická manifestace PG a pozdně začínající (ACPA a RFs izotypy séropozitivní) revmatoidní artritidy, (b) ulcerace PG byla fenoménem maskujícím fibrinoidně-nekrotickou (revmatoidní) arteritidu a (c) odpověď na terapii kombinací glukokortikoidy-cyklosporin byla sice pomalá, ale doposud dlouhodobě setrvalá. Analýza triády "pyoderma gangrenosum - revmatoidní artritida - nekrotizující arteritida" je inspirativní v kontextu komplikované patogenní dráhy i jako klinický problém.
Pyoderma gangrenosum (PG) is a rare disorder from the group of neutrophilic dermatoses, partly as a serious comorbidity in rheumatoid arthritis. The main form of its clinical manifestation is abacterial necrotizing skin ulceration (-s) with irregular, indurative and violaceous border (espec. trunk/LE). The present study demonstrates a serious form of PG in a 73y old man; the last form of PG composite diagnostic criteria (2017) was completely fulfilled, and the observation was also associated with the following important aspects: (a) clinical manifestation of PG and elderly onset (ACPA and RFs isotypes seropositive) rheumatoid arthritis (EORA) were parallel, (b) PG ulceration was present as a masquerading phenomenon of fibrinoid-necrotic (rheumatoid) arteritis, and (c) the response to long-term glucocorticoid-cyclosporine combination was slow, but up to the presence persistent. Observation of the triade "pyoderma gangrenosum - rheumatoid arthritis - necrotizing arteritis" may be consider as an inspirative combination both in complicated pathways, and also as an important clinical problem.
- MeSH
- antibakteriální látky terapeutické užití MeSH
- antirevmatika MeSH
- arteritida * diagnóza patologie MeSH
- cyklosporin aplikace a dávkování terapeutické užití MeSH
- glukokortikoidy terapeutické užití MeSH
- komorbidita MeSH
- kožní vředy diagnóza farmakoterapie patologie MeSH
- lidé MeSH
- pyoderma gangrenosum * diagnóza farmakoterapie patologie MeSH
- revmatoidní artritida diagnóza farmakoterapie patologie MeSH
- senioři MeSH
- vzácné nemoci MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- Publikační typ
- kazuistiky MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
This prospective study sought to evaluate the healing quality of implanted ultraporous β-tricalcium phosphate sown with expanded autologous mesenchymal stromal cells (MSCs) into femoral defects during revision hip arthroplasty. A total of 37 osseous defects in 37 patients were treated and evaluated concerning bone regeneration. Nineteen subjects received β-tricalcium phosphate graft material serving as a carrier of expanded autologous MSCs (the trial group A), nine subjects received β-tricalcium phosphate graft material only (the study group B) and nine subjects received cancellous allografts only (the control group C). Clinical and radiographic evaluations were scheduled at 6 weeks, 3, 6, and 12 months post-operatively, and performed at the most recent visit as well. All observed complications were recorded during follow-up to assess the use of an ultraporous β-tricalcium phosphate synthetic graft material combined with expanded MSCs in bone defect repair. The resulting data from participants with accomplished follow-up were processed and statistically evaluated with a Freeman-Halton modification of the Fischer's exact test, a P < 0.05 value was considered to be significant. Whereas no significant difference was observed between the trial group A with β-tricalcium phosphate synthetic graft material serving as a carrier of expanded autologous MSCs and control group C with cancellous impaction allografting in terms of the bone defect healing, significant differences were documented between the study group B with β-tricalcium phosphate graft material only and control group C. Regarding adverse effects, six serious events were recorded during the clinical trial with no causal relationship to the cell product. β-tricalcium phosphate synthetic graft material serving as a carrier of expanded autologous MSCs appears safe and promotes the healing of bone defects in a jeopardized and/or impaired microenvironment. This clinical trial was registered at the EU Clinical Trials Register before patient recruitment (Registration number: EudraCT number 2012-005599-33; Date of registration: 2013-02-04).
- MeSH
- dospělí MeSH
- femur cytologie zranění fyziologie chirurgie MeSH
- fosforečnany vápenaté chemie terapeutické užití MeSH
- kostní náhrady chemie terapeutické užití MeSH
- lidé středního věku MeSH
- lidé MeSH
- mezenchymální kmenové buňky cytologie MeSH
- regenerace kostí * MeSH
- senioři MeSH
- tkáňové podpůrné struktury chemie MeSH
- transplantace mezenchymálních kmenových buněk metody MeSH
- výsledek terapie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- klinické zkoušky, fáze II MeSH
- práce podpořená grantem MeSH
- srovnávací studie MeSH
PURPOSE OF THE STUDY When treating tears of the distal biceps brachii muscle tendon, we repeatedly noticed a difference between the preoperative ultrasound findings and the operative findings. The aim of the study was to retrospectively correlate these findings in order to determine the sensitivity of the ultrasound examination in everyday orthopaedic practice. Moreover, we compared the results and complications of surgical treatment through two operative techniques used at our department. MATERIAL AND METHODS In the 2004-2016 period 20 patients underwent a surgery at our department for total tear of the distal tendon of the biceps brachii muscle. In 18 patients an ultrasound examination was performed preoperatively. In 3 patients it was repeated. Therefore, there were a total of 21 ultrasound observations made in this group of patients. Excluded were the cases of chronic tendinoses or inveterated tears. The group was divided into two sub-groups. The first sub-group was composed of patients in whom the preoperative ultrasound examination was performed by a radiologist-specialist in the musculoskeletal system, the second sub-group was composed of patients examined by a non-specialist. The ultrasound findings were compared with the operative findings. With the use of a formula for the calculation of sensitivity of the test, the sensitivity of the ultrasound examination was determined for proper recognition of a complete tear of the tendon concerned. Also, we compared the results and complications of the two operative methods applied: the technique using bone anchor vs. the Boyd-Anderson technique of transosseous reinsertion. RESULTS The sensitivity of the ultrasound examination was 91% in examinations performed by a radiologist-specialist and 40% in examinations performed by no-specialists. Both the surgical techniques brought very good results in our group of patients. The reported complications included 2 cases of temporary radial nerve palsy, 1 case of formation of heterotopic ossifications. DISCUSSION The sensitivity of ultrasound is adequate according to the literature. In our group of patients, the same applied only to examinations performed by a radiologist-specialist in the musculoskeletal system. This is because the ultrasound examination of the distal biceps tendon is a highly specialised examination. When performed by a non-specialist, the result of examination obtained in our observations is rather misleading, thus could lead to an improper method of treatment. Partial tears of this tendon are very rare according to the literature. Indirect signs of the partial tear presence at this location detected by ultrasound resulted in most cases in an incorrect diagnosis, therefore the description of a partial tear visualised by the ultrasound should be reserved exclusively for cases when intact fibrils are clearly detected during the examination. For unclear cases, the MRI scan is indicated. The results of both the surgical techniques of reinsertion applied were very good. The method using the bone anchors is technically easier to perform. Nonetheless, it has its specifics. CONCLUSIONS To diagnose correctly the tear of the distal biceps muscle tendon it is essential to perform a thorough clinical examination and to obtain the medical history of the patient, especially the mechanism of injury. Sonography can be beneficial only provided the examination is carried out by a specialist in the musculoskeletal system, with the use of appropriate device and under standard conditions. For surgical treatment of this injury we prefer the technique using a bone anchor, namely particularly since it is technically easier to perform. The functional results are very good. Key words: distal biceps tendon, elbow, tendon tear, ultrasound, suture anchors.
- MeSH
- dospělí MeSH
- korelace dat MeSH
- kosterní svaly * patologie patofyziologie MeSH
- kotvící implantáty * MeSH
- lidé MeSH
- neuropatie nervus radialis * diagnóza etiologie MeSH
- paže diagnostické zobrazování patofyziologie MeSH
- pooperační komplikace * diagnóza etiologie MeSH
- poranění šlachy * diagnóza patofyziologie chirurgie MeSH
- senzitivita a specificita MeSH
- šlachy diagnostické zobrazování MeSH
- tenodéza * škodlivé účinky přístrojové vybavení metody MeSH
- ultrasonografie metody MeSH
- výsledek terapie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Časná diagnostika a včasné zahájení účinné léčby je zásadním faktorem ovlivňujícím budoucí kvalitu života pacientů postižených axiální spondylartritidou (AxSpA). V článku se snažíme shrnout současné poznatky o zobrazování AxSpA s důrazem na diagnostiku časných stadií. Hodnotíme přínos a použitelnost jednotlivých zobrazovacích metod a seznamujeme čtenáře s používanými klasifikačními schématy užívanými k diagnostice a monitoraci léčby axiálních spondylartritid. V závěru se zabýváme diferenciálními diagnózami.
An early diagnosis and an early initiation of treatment is a major factor affecting the future quality of life of the patients with axial spondyloarthritis (AxSpA). In the paper we summarize the recent knowledge on the imaging AxSpA focusing on the diagnosis of the early stages. We evaluate the benefits and applicability of imaging methods. We present to readers the classification schemes which are used for diagnosis and monitoring the therapy of axial spondyloarthritis. Finally, we discuss the differential diagnosis.
Po úvodních anatomických a fyziologických poznámkách přináší článek přehled MR zobrazených intrinzických i extrinzických patologických stavů Hoffova tukového tělesa kolenního kloubu. V retrospektivní studii 118 MR vyšetření kolenních kloubů byla provedena cílená analýza předního kompartmentu a budou prezentovány nálezy zobrazené MR přístroji l,5T a 3T. Nejčastěji se vyskytují extrinzické patologické stavy - nálezy ve vztahu k okolním strukturám kolena - nepravidelný dorzální povrch na podkladě synovitis, cystické útvary - ganglia z předního zkříženého vazu nebo předního transverzálního vazu nebo parameniskální ganglia z porušených předních rohů menisků. Edém, fisura nebo ruptura může být součástí komplexního akutního posttraumatického stavu kolena, nebo mohou být podmíněny repetitivními mikrotraumaty Zářezy mohou obsahovat intraartikulární volné tělísko, zastihneme stopy po artroskopii, může se imprimovat kyklopská leze. Expanze z okolních struktur (např. hemangiomy, pigmentovaná vilonodulární synovitida, kostní nádory) mohou do Hoffova tělesa snadno prorůstat. Intrinzické patologické stavy jsou nejčastěji podmíněny útlakem (impingementem) - HofFova choroba, infrapatelární impingement syndrom dorzálního výběžku a méně častý superolaterální či superomediální impingement. Bude rozebrána role anatomických variant ve vztahu ke klinickým jednotkám. Patologické nálezy HofFova tukového tělesa jsou četnější, než se obvykle předpokládá, mohou být zdrojem bolestivého klinického stavu samy o sobě nebo jako indikátor či součást patologického stavu okolních struktur.
Following an information on the anatomical and physiologic background, an overview of MRI imaging findings of both intrinsic and extrinsic pathologic conditions of Hoffa's fat of the knee is presented. In a retrospective study of 118 MRI examinations of the knee a detailed analysis of the anterior compartment was performed and the findings will be displayed as visualized by a 1,5 T and 3 T MRI scanner. The encountered pathologic conditions are more frequently extrinsic - related to the adjacent structures: An irregular dorsal surface due to synovitis, cystic structures - a ganglion cyst of the anterior cruciate ligament or of the anterior transverse ligament or a meniscal cyst of the ruptured anterior horns of the menisci. Edema, a fissure or a rupture may be part of a complex acute posttraumatic condition of the knee, or due to repeated microtraumas. The clefts may contain an intraarticular loose body, traces of arthroscopy or an interfering cyclops lesion may be found. Masses of the adjacent structures (esp. hemangiomas, pigmented villonodular synovitis, bone tumours) easily extend into the fat pad. Most of the intrinsic pathologic conditions are caused by impingement - Hoffa's disease, the infrapatellar impingement syndrome of the dorsal apex and the less frequent superolateral or superomedial impingement. The relevance of anatomical variants with respect to clinical entities will be discussed. The pathologic findings in Hoffas fat pad in MRI are more frequent than generally expected, they can be the source of a painful condition of the knee themselves or they can indicate a pathology or be part of a pathology of the adjacent structures.
- Klíčová slova
- Hoffovo tukové těleso,
- MeSH
- klinická studie jako téma MeSH
- koleno * diagnostické zobrazování patofyziologie MeSH
- lidé MeSH
- magnetická rezonanční tomografie metody využití MeSH
- tukové těleso * diagnostické zobrazování MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- přehledy MeSH
We describe Caucasian monozygotic twin brothers with rheumatoid arthritis (RA) and discuss influence of predictors to methotrexate (MTX) outcome treatment. Single nucleotide polymorphisms (SNPs) of the MTX metabolic pathways were genotyped. Twins have multiple mutations: a CC mutation of SNP 1298A>C in methylenetetrahydrofolate reductase (MTHFR) gene, CC mutations of three SNPs in the adenosine receptor gene ADORA2A (rs3761422_4217241T>C, rs2267076_4221164T>C, rs2236624_4226593T>C), and a heterozygous genotype in SNPs ATIC_rs2372536_347C>G, MTHFD1_rs2236225_1958G>A. These mutations are known to predict a worse outcome of MTX treatment. The twins had different lifestyles (alcohol drinking and smoking in Twin 1, regular coffee consumption in Twin 2), but a very similar clinical presentation of the outset of RA, radiographic scoring according to the Sharp/van der Heijde method with an almost identical antibodies presentation. The period of the patients before anti-TNFα treatment was characterized by unsuccessful per oral MTX pharmacotherapy in both cases (a low effect of MTX in Twin 1; an early discontinuation of MTX due to an adverse event in Twin 2). In both twins, the outcome of well-controlled anti-TNFα treatment (co-medication with MTX in Twin 1) for 10 years was expressed as low disease activity measured using composite index DAS28. It is interesting that Twin 2 had an unfavorable radiographic scoring after a 10-year follow-up than Twin 1 in spite of the comparable DAS28 in Twin 2 and smoking in Twin 1. In conclusion, co-medication of MTX with biologics may impact on RA radiographic progression despite predicted bad MTX outcome based on pharmacogenetic analysis.
- MeSH
- antirevmatika terapeutické užití MeSH
- běloši genetika MeSH
- biologické přípravky terapeutické užití MeSH
- dvojčata monozygotní MeSH
- jednonukleotidový polymorfismus genetika MeSH
- kombinovaná farmakoterapie metody MeSH
- lidé středního věku MeSH
- lidé MeSH
- methotrexát terapeutické užití MeSH
- progrese nemoci MeSH
- revmatoidní artritida farmakoterapie genetika patologie MeSH
- výsledek terapie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- dopisy MeSH
- kazuistiky MeSH
- Klíčová slova
- zánět nejasné etiologie,
- MeSH
- burzitida MeSH
- fluorodeoxyglukosa F18 MeSH
- glukokortikoidy terapeutické užití MeSH
- lidé MeSH
- multimodální zobrazování MeSH
- plíce metabolismus MeSH
- počítačová rentgenová tomografie MeSH
- polymyalgia rheumatica * farmakoterapie MeSH
- pozitronová emisní tomografie * MeSH
- senioři MeSH
- zánět * etiologie MeSH
- Check Tag
- lidé MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
