Leiomyómy sú najčastejšími tumormi reprodukčného systému ženy. Vznikajú pravdepodobne z jednej bunky a majú viacero histologických podtypov. Vrchol incidencie myómov je vo veku 40 - 50 rokov a najčastejšie sú postihnuté Afroameričanky. Zvýšené riziko výskytu myomatózy sa spája s niektorými predispozičnými faktormi (rasa, vek, parita, obezita, hormonálny status, anamnéza a dedičnosť). V myómoch sa vyskytuje 40 - 50 % cytogenetických abnormalít. Na rast myómov majú vplyv pohlavné hormóny, estrogény aj progesterón. Kľúčovými regulátormi bunkovej proliferácie, angiogenézy a apoptózy sú tkanivové rastové faktory. V etiopatogenéze tejto choroby však stále zostáva veľa nezodpovedaných otázok. Diagnostika myomatózy maternice je založená na fyzikálnom gynekologickom vyšetrení doplnenom zobrazovacími metódami.

Leiomyomas are the most common female reproductive tract tumors. They are probably of unicellular origin, and have more histological varied subtypes. The incidence of fibroids peaks in the fifth decade of age and they are more common in African American women. The predisposition factors as race, age, parity, obesity, hormonal state, family history and heredity are associated with increased risk of fibroids. Cytogenetic abnormalities are found in up to 40 - 50 % of fibroid specimens. Their growth rate is influenced by estrogens and progesterone. The key regulators of cell proliferation, angiogenesis and the process of apoptosis are growth factors. There are a lot of research questions waiting to be answered on the etiopathogenesis of the disease. Evaluation usually begins with a pelvic examination and diagnostic imaging to determine both the size and location of the fibroids within the uterus.

Three main uterine leiomyoma molecular subtypes include tumors with MED12 mutation, molecular aberrations leading to HMGA2 overexpression, and biallelic loss of FH. These aberrations are mutually exclusive and can be found in approximately 80-90% of uterine leiomyoma, in which they seem to be a driver event. Approximately 10% of uterine leiomyoma, however, does not belong to any of these categories. Uterine leiomyoma with HMGA2 overexpression is the most common subtype in cellular and second most common category of usual leiomyoma. In some of these tumors, rearrangement of HMGA2 gene is present. The most common fusion partner of HMGA2 gene is RAD51B. Limited data suggests that RAD51B fusions with other genes may be present in uterine leiomyoma. In our study, we described two cases of uterine leiomyoma with RAD51B::NUDT3 fusion, which occur in one case of usual and one case of highly cellular leiomyoma. In both cases, no other driver molecular aberrations were found. The results of our study showed that RAD51::NUDT3 fusion can occur in both usual and cellular leiomyoma. RAD51B may be a fusion partner of multiple genes other than HMGA2 and HMGA1. In these cases, RAD51B fusion seems to be mutually exclusive with other driver aberrations defining molecular leiomyoma subtypes. RAD51B::NUDT3 fusion should be added to the spectrum of fusions which may occur in uterine leiomyoma, which can be of value especially in cellular leiomyoma in the context of differential diagnosis against endometrial stromal tumors.

• MeSH
• DNA vazebné proteiny * genetika   MeSH
• dospělí MeSH
• fúzní onkogenní proteiny genetika   MeSH
• leiomyom * genetika   patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádorové biomarkery genetika   MeSH
• nádory dělohy * genetika   patologie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Leiomyoma with bizarre nuclei (LBN) is an uncommon variant of uterine smooth muscle neoplasm. Involvement of fumarate hydratase (FH) has been suggested in the pathogenesis of a subset of LBN. The goal of our study is to assess the clinicopathological, morphological, immunohistochemical and molecular findings focusing on FH in LBNs (n = 108) and compare it with the findings in usual leiomyomas (UL; n = 50) and leiomyosarcomas (LMS; n = 42). Immunohistochemically, loss of FH expression was found in 67/108 of LBN, 1/50 of UL and in no LMS. Class 4/5 FH mutations were detected in 15/53 LBN with sufficient DNA quality for molecular analysis. Pathogenic variants of the FH gene were detected in neither UL nor LMS. Local recurrence after surgery was present in 18/92 of LBN patients, 7 of which were histologically verified and 2 of which were found to be LBN. Our results confirmed that LBN behave in a benign fashion, although they may relapse. FH gene mutations were a common finding only in LBN, but not in UL and LMS. Immunohistochemistry with an antibody against FH seems to have a good sensitivity (87%) and moderate specificity (58%) with regard to predicting FH gene mutations and could be used as a screening method in tumors with features suggestive of FH alterations to identify patients who are at risk for the FH aberrations.

• MeSH
• buněčné jádro patologie   MeSH
• dospělí MeSH
• fumarasa genetika   MeSH
• leiomyom genetika   patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mutace MeSH
• nádorové biomarkery genetika   MeSH
• nádory dělohy 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

• MeSH
• laparoskopie * MeSH
• leiomyom * chirurgie   MeSH
• lidé MeSH
• miniinvazivní chirurgické výkony MeSH
• myomektomie * MeSH
• nádory dělohy * chirurgie   MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

The pathophysiology of venous thrombosis is classically attributed to alterations in one or more components of Virchow's triad: hypercoagulability, stasis, and damage to the vascular endothelium. Deep vein thrombosis (DVT) may lead to pulmonary thromboembolism (PE), and the latter is culpable for many deaths annually in the United States. However, DVT as a complication of uterine leiomyoma has rarely been reported. We report a case of a fair, fatty, female in her fifties whose death was due to a large leiomyomata externally compressing the pelvic veins resulting in stasis and venous thrombosis leading to fatal PE. The association of large pelvic masses with venous thrombosis has clinical implications, since prophylactic surgery could be life-saving. Other findings in this patient were cholelithiasis and cardiomegaly with left ventricular hypertrophy. Leiomyoma is the commonest gyneacology tumour which usually regress with age and rarely with thromboembolic phenomenon. However, the presence of this condition in a patient with high risk index for thrombus formation should necessitate the removal of the tumour in order to prevent sudden death from pulmonary thromboembolism.

• MeSH
• dospělí MeSH
• hypertenze MeSH
• leiomyom MeSH
• lidé MeSH
• rizikové faktory MeSH
• smrt MeSH
• tromboembolie * MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome secondary to germline fumarate hydratase (FH) mutation presents with cutaneous and uterine leiomyomas, and a distinctive aggressive renal carcinoma. Identification of HLRCC patients presenting first with uterine leiomyomas may allow early intervention for renal carcinoma. We reviewed the morphology and immunohistochemical (IHC) findings in patients with uterine leiomyomas and confirmed or presumed HLRCC. IHC was also performed on a tissue microarray of unselected uterine leiomyomas and leiomyosarcomas. FH-deficient leiomyomas underwent Sanger and massively parallel sequencing on formalin-fixed paraffin-embedded tissue. All 5 patients with HLRCC had at least 1 FH-deficient leiomyoma: defined as completely negative FH staining with positive internal controls. One percent (12/1152) of unselected uterine leiomyomas but 0 of 88 leiomyosarcomas were FH deficient. FH-deficient leiomyoma patients were younger (42.7 vs. 48.8 y, P=0.024) and commonly demonstrated a distinctive hemangiopericytomatous vasculature. Other features reported to be associated with FH-deficient leiomyomas (hypercellularity, nuclear atypia, inclusion-like nucleoli, stromal edema) were inconstantly present. Somatic FH mutations were identified in 6 of 10 informative unselected FH-deficient leiomyomas. None of these mutations were found in the germline. We conclude that, while the great majority of patients with HLRCC will have FH-deficient leiomyomas, 1% of all uterine leiomyomas are FH deficient usually due to somatic inactivation. Although IHC screening for FH may have a role in confirming patients at high risk for hereditary disease before genetic testing, prospective identification of FH-deficient leiomyomas is of limited clinical benefit in screening unselected patients because of the relatively high incidence of somatic mutations.

• MeSH
• čipová analýza tkání MeSH
• dospělí MeSH
• fenotyp MeSH
• fumarasa nedostatek   genetika   MeSH
• genetická predispozice k nemoci MeSH
• imunohistochemie MeSH
• leiomyomatóza enzymologie   genetika   patologie   chirurgie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mutace MeSH
• mutační analýza DNA MeSH
• nádorové biomarkery nedostatek   genetika   MeSH
• nádory dělohy enzymologie   genetika   patologie   chirurgie   MeSH
• nádory kůže enzymologie   genetika   patologie   chirurgie   MeSH
• prognóza MeSH
• syndrom MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• hodnotící studie MeSH
• práce podpořená grantem MeSH

Přehledový článek se věnuje především možnostem a limitacím moderních zobrazovacích metod v předoperační diferenciální diagnostice mezenchymových nádorů dělohy. Při plánování vhodného chirurgického výkonu se řídíme nejen klinickými symptomy, věkem a reprodukčními plány, ale i zobrazovacími metodami, zejména ultrazvukovým vyšetřením a magnetickou rezonancí (MR). U těchto dvou zobrazení lze na základě recentních studií definovat znaky, které svědčí pro přítomnost malignity. V případě ultrazvukového vyšetření se jedná o obraz objemného, většinou solitárního nádoru nehomogenní struktury s cystami nepravidelného tvaru, s porušeným zevním pouzdrem, absencí kalcifikací a akustických stínů a střední nebo vysokou vaskularizací intraparenchymatózně. Maligním znakem je rovněž rychlý růst nádoru v průběhu sledování, zvláště peri- a postmenopauzálně. Při zobrazení MR mají děložní sarkomy nepravidelné ohraničení, jsou patrné hyperintenzní oblasti na T1 i T2 vážených sekvencích a centrální nekrotická oblast bez sycení kontrastní látkou. Při difuzně váženém zobrazení (DWI/MR) je patrná výrazná restrikce, ale tento znak se může objevovat i u některých variant myomů. Při suspektních nálezech v rámci předoperačního zobrazení ultrazvukem či MR lze využít biopsii silnou jehlou či hysteroskopicky, a to zejména při plánování fertilitu zachovávajících výkonů, nebo zvažujeme-li konzervativní management u asymptomatických pacientek. Co se týče dalších zobrazovacích metod, přínos výpočetní tomografie (CT) nebo pozitronové emisní tomografie v kombinaci s CT (PET/CT) je v rámci diferenciální diagnostiky značně omezený. Obě metody slouží pouze pro stanovení rozsahu onemocnění. Význam laboratorních markerů, především laktátdehydrogenázy, v diferenciální diagnostice nebyl dosud prokázán. Závěr: Ultrazvukové vyšetření anebo magnetická rezonance mohou přispět k předoperačnímu rozlišení děložních sarkomů od mnohem častějších myomů na základě přítomnosti kombinace maligních znaků. V této skupině žen se suspektními nálezy je potřeba zvolit adekvátní typ a rozsah chirurgického výkonu, především je nutné vyvarovat se intraperitoneální morcelace, která by mohla vést k iatrogenní diseminaci a zhoršení prognózy.

The narrative review article is focused on the strengths and limitations of modern imaging methods in the preoperative differential diagnosis of uterine mesenchymal tumours. In order to tailor the surgical procedures, imaging methods, namely ultrasound and magnetic resonance imaging (MRI), should be taken into account as well as clinical symptoms, age, and fertility plans. On ultrasound scans, uterine sarcomas have the appearance of large, usually solitary tumours of non-homogenous structure with irregular cysts, ill-defined outline borders (interrupted capsule), absence of calcifications with acoustic shadowing, and moderate to rich internal vascularisation. Rapid growth between follow-ups or atypical growth in peri- or post-menopause is also a sign of malignancy. On MRI, uterine sarcomas are characterized by irregular borders, hyperintense areas on T1-weighted and T2- weighted images, and central non-enhancing necrotic areas. On diffusion-weighted imaging (DWI/MRI), sarcomas exhibit markedly restricted diffusion but there is a significant overlap with some variants of fibroids. Core-needle or hysteroscopic biopsy can be used preoperatively if suspicious features are detected on ultrasound or MRI scans, particularly before myomectomy if fertility preservation is required or when conservative management is considered in asymptomatic women. Other imaging methods, such as positron emission tomography fused with CT (PET-CT) or computed tomography (CT) have limited role to distinguish uterine sarcomas from myomas and are suitable only for staging purposes. The importance of tumour markers including lactate dehydrogenase in preoperative work-up have not been verified yet. Conclusion: Uterine sarcomas can be distinguished from much more common myomas based on a combination of malignant features on ultrasound or MR imaging. In these suspicious cases the type and extent of surgery should be adjusted, avoiding intraperitoneal morcellation, which could lead to iatrogenic tumour spread and worsening of the patient’s prognosis.

• MeSH
• biologické markery MeSH
• biopsie metody   MeSH
• diferenciální diagnóza MeSH
• leiomyom chirurgie   diagnóza   MeSH
• lidé MeSH
• magnetická rezonanční tomografie metody   MeSH
• nádory dělohy * chirurgie   diagnostické zobrazování   diagnóza   MeSH
• předoperační vyšetření MeSH
• sarkom chirurgie   diagnóza   MeSH
• ultrasonografie metody   MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH

Autoři uvádějí kazuistiku 41 letého muže přijatého na chirurgickou kliniku pro masivní krvácení do trávicího ústrojí. Zdrojem byl dobře ohraničený tumor tenkého střeva verifikovaný pri akutní laparotomii. Histologické a imunohistochemické vyšetření prokázalo stromální nádor nejasné biologické povahy. Autoři diskutují diagnostická úskalí těchto málo frekventních nádorů zejména u asymptomatických forem. U symptomatických nádorů mnohdy objasní vlastní príčinu pouze urgentní laparotomie. Diferenciální diagnóza mezi leiomyomem, schvanomem, mezenteriální fibromatózou, solitámím fibrózním nádorem nebo metastázou melanomu není snadná a imunohistochemické vyšetření hraje zásadní úlohu. Predikce biologického chování nádoru není rovněž jednoduchá a závisí na histologickém charakteru, lokaUzaci, velikosti a mitotické aktivitě nádoru.

A 41-year-old man attended our clinic with massive gastrointestinal bleeding due to a tumor of the small intestine. The tumor was not diagnosed until during acute laparotomy. The histological examination revealed a gastrointestinal stromal tumor with uncertain biological behaviour. The authors discuss the rare gastrointestinal stromal tumors, where preoperative diagnosis is difficult and in symptomatic forms urgent laparotomy is usually the only diagnostic method. The differential diagnosis between leiomyoma, schwannoma, mesenterial fibromatosis or intraabdominal solitary fibrous tumor as well as metastatic melanoma is not simple and immunohistochemistry plays a leading role. Prediction of biological behaviour of these tumors is also problematic and depends on the histological picture, site, size and mitotic activity.

• MeSH
• diagnostické techniky gastrointestinální využití   MeSH
• diagnostické zobrazování metody   využití   MeSH
• diferenciální diagnóza MeSH
• imunohistochemie metody   MeSH
• laparotomie metody   využití   MeSH
• lidé MeSH
• nádory trávicího systému diagnóza   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH

INTRODUCTION: Gastrointestinal stromal tumors are among the most frequent mesenchymal tumors of the gastrointestinal tract; the incidence of these tumors in the esophagus is less than 5%. Prognosis depends on localization, size, mitotic activity and possible invasion of surrounding structures. Minimally invasive surgery may be maximally utilized for removal of these tumors from the esophageal wall. This operation is usually performed thoracoscopically or laparoscopically and using the "rendez-vous" method - with endoscopic navigation. AIM: To evaluate a set of patients with benign tumor of the esophagus who were operated on at the First Department of Surgery from 2006 to 2011. MATERIAL AND METHODS: In the years 2006-2011 a total of 11 patients with benign tumors of the esophagus underwent operation. RESULTS: Of the 11 patients with esophageal tumor, 5 were diagnosed with gastrointestinal stromal tumor, 5 with leiomyoma and in one patient the lesion was described as heterotopy of the pancreas. We used the minimally invasive rendez-vous method with endoscopic navigation in 9 cases. All patients healed primarily and were released from hospital on the 4(th)-7(th) day. These patients are being followed up as outpatients and recurrence of the tumor has not been observed in any of them. CONCLUSIONS: Minimally invasive treatment of benign tumors of the esophageal wall is considered to the method of choice. Due to possible complications and the need for subsequent therapy in some patients, these procedures should be centralized to departments with experience in esophageal, thoracic and minimally invasive surgery.

• Publikační typ
• časopisecké články MeSH

Uterine artery embolization (UAE) is a minimally invasive procedure with large symptomatic potential in treatment of women with uterine leiomyomas. Due to specificities of this method and possible complications the appropriate indication is crucial. Patient' symptoms, age, plans for pregnancy, and surgical and reproductive history play a major role in decision-making regarding appropriate subjects for UAE. Close cooperation between the gynecologist and the interventional radiologist is necessary. UAE is usually offered as an alternative to surgical treatment. In patients with no fertility plans, it is a less invasive option than abdominal hysterectomy, with a comparable effect on fibroid-related symptoms and quality of life. The need for reintervention is markedly greater in patients after UAE (up to 35% within 5 years) than after hysterectomy. Women with large symptomatic fibroids wishing to retain the uterus and ineligible for minimally invasive (laparoscopic or vaginal) hysterectomy are good candidates for UAE. However, studies comparing UAE with minimally invasive hysterectomy are lacking. Use of UAE in younger women desiring pregnancy is more controversial, mainly because of the significant risk of miscarriage (as high as 64% in some studies) as well as the increased risk of other complications of pregnancy, such as preterm delivery, abnormal placentation, and post-partum hemorrhage. The risk of infertility or subfertility following UAE is unknown. Even poor candidates for myomectomy should be carefully selected for UAE after counseling about all possible adverse effects on fertility. Good prospective studies focused on fertility comparing UAE with no treatment or with myomectomy are needed but would be ethically questionable. This review summarizes the current knowledge regarding the benefits and potential risks of UAE from the point of view of the gynecologist, who should be responsible for proper indication of this treatment.

• Publikační typ
• časopisecké články MeSH
• přehledy MeSH