Papillary thyroid carcinoma (PTC) represents ~80% of all thyroid cancers, most frequently presenting in women in the third and fourth decade of life. The first clinical manifestation of PTC commonly includes a palpable mass in the thyroid area or cervical lymphadenopathy in cases of metastatic disease. Hematogenous distant metastases are a sign of an advanced stage of the tumour. The present study reported an extremely rare occurrence of solitary metastasis of a PTC in the left breast of a 63-year-old male patient, mimicking primary male breast cancer (MBC). The presence of a male breast lesion that did not follow the typical imaging criteria for MBC aroused suspicion of a different primary origin. The combination of imaging methods, laboratory findings and fine-needle aspiration techniques enabling cytological and histopathological examination, with the use of a wide panel of immunohistochemical markers, is crucial to establishing a definitive and correct diagnosis.
- Publication type
- Journal Article MeSH
- Case Reports MeSH
Úvod: Karcinom žaludku je závažné onemocnění s klesající incidencí. V léčbě jeho časných stadií se významně uplatňují endoskopické metody, zejména endoskopická submukózní disekce (ESD). Metody: Prezentujeme výsledky 64 sousledných ESD lézí žaludku. ESD jsme provedli konvenční technikou s cirkulární incizí a následnou submukózní disekcí nástrojem DualKnife. V případech karcinomů jsme výsledek ESD posuzovali podle skórovacího systému eCura. Výsledky: En bloc resekce jsme dosáhli v 88 %, R0 resekce v 72 %. Významné krvácení se vyskytlo v 8 %, perforace ve 3 %, všechny komplikace jsme zvládli konzervativně, letalita byla nulová. Z 58 ESD neoplastických lézí bylo kurativních 42 (72 %). K operaci po ESD jsme zvažovali 6 (10 %) nemocných, realizována byla u 2 (3 %). Závěr: V podmínkách země s nízkým výskytem karcinomu žaludku považujeme ESD za bezpečnou metodou s významným kurativním potenciálem.
Introduction: Gastric cancer is a serious disease with a decreasing incidence. In the treatment of its early stages, endoscopic methods, especially endoscopic submucosal dissection (ESD), are used significantly. Methods: We present the results of 64 consecutive ESD gastric lesions. We performed ESD using a conventional technique with a circular incision followed by submucosal dissection with the DualKnife tool. In cases of carcinomas, we assessed the outcome of ESD according to the eCura scoring system. Results: We achieved en bloc resection in 88% and R0 resection in 72%. Significant bleeding occurred in 8% and perforation in 3%; we managed all complications conservatively, where the lethal rate was zero. Of the 58 ESD neoplastic lesions, 42 (72%) were curative. We considered 6 (10%) patients for surgery after ESD, and it was performed in 2 (3%). Conclusion: In the conditions of a country with a low incidence of gastric cancer, we consider ESD to be a safe method with significant curative potential.
- MeSH
- Endoscopic Mucosal Resection * methods instrumentation adverse effects statistics & numerical data MeSH
- Humans MeSH
- Stomach Neoplasms * surgery diagnosis epidemiology MeSH
- Prospective Studies MeSH
- Severity of Illness Index MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Observational Study MeSH
Následující kazuistické sdělení popisuje 3 případy nemocných, kteří byli došetřování pro respirační potíže a déletrvající B-symptomy. Původně zvažovaná infekční onemocnění, sarkoidóza a event. jiná běžně se vyskytující onemocnění byla po komplexním a důkladném vyšetření vyloučena. Diagnóza byla uzavřena v prvním případě jako multicentrická forma Castlemanovy choroby, ve druhém případě jako lymfomatoidní granulomatóza a ve třetím případě jako koincidence granulomatózního procesu neznámé etiologie a chronické myelomonocytární leukemie s přechodem do akutní leukemie.
The following three case reports describe patients who presented with respiratory symptoms and long-lasting B-symptoms. They were first considered to be suffering from infectious diseases. Sarcoidosis and other common conditions were excluded after a comprehensive examination. The patients were then diagnosed with idiopathic multicentric Castleman disease, lymphomatoid granulomatosis, and a granulomatous process of unknown aetiology coincident with chronic myelomonocytic leukaemia and later progression to acute leukaemia.
- Keywords
- granulomatózní choroby,
- MeSH
- Leukemia, Myelogenous, Chronic, BCR-ABL Positive diagnosis classification blood MeSH
- Granuloma * diagnosis etiology classification pathology MeSH
- Castleman Disease diagnosis immunology pathology MeSH
- Middle Aged MeSH
- Humans MeSH
- Lymphomatoid Granulomatosis diagnosis etiology pathology MeSH
- Aged MeSH
- Rare Diseases * diagnosis classification pathology MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
Clear cell mesothelioma is uncommon and shows predominance of clear cells with resemblance to clear cell carcinomas. Clinicopathologic and molecular descriptions of clear cell mesothelioma remained limited. In this study, we identified an index patient with clear cell mesothelioma, confirmed by immunohistochemical and ultrastructural studies. Targeted next-generation sequencing revealed the presence of an inactivating VHL mutation. We then systematically searched for VHL-mutant mesotheliomas in a comprehensive genomic profiling database of 1532 mesotheliomas. Collectively, we identified a cohort of four VHL-mutant clear cell mesotheliomas, including three peritoneal and one pleural tumors from three females and one male, with age range of 47-68 (median 63) years. Histologically, each tumor showed a microcystic to tubulopapillary architecture with prominent clear cells. By next-generation DNA sequencing, each of the four clear cell mesotheliomas harbored inactivating VHL mutations, while lacking other alterations typical of mesotheliomas such as BAP1, NF2, SETD2, CDKN2A, CDKN2B, TP53, and PTEN. By using low-pass whole genome sequencing on the index case and targeted next-generation sequencing on the remaining three cases, we identified extensive loss of heterozygosity throughout the genome but consistently sparing chromosomes 5, 7, and 20, characteristic of genomic near-haploidization. In summary, clear cell mesotheliomas were characterized by inactivating VHL mutations and genomic near-haploidization and appeared to represent a distinct clinicopathologic and molecular category of mesotheliomas. Our findings implicate VHL in the pathogenesis of a subset of mesotheliomas, particularly those with clear cell morphology.
- MeSH
- Chromosome Aberrations MeSH
- Genomics MeSH
- Haploidy MeSH
- Middle Aged MeSH
- Humans MeSH
- Mesothelioma, Malignant * MeSH
- Mesothelioma * genetics MeSH
- Mutation MeSH
- Von Hippel-Lindau Tumor Suppressor Protein genetics MeSH
- Lung Neoplasms * genetics MeSH
- Aged MeSH
- Ubiquitin Thiolesterase genetics MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Systematic Review MeSH
Lung malignancies have a substantial impact on cancer incidence and mortality worldwide. Even though many factors involved in the development of the disease are known, many questions remain unanswered. Previous studies suggest that the intestinal microbiota may have a role in developing malignant diseases. According to some findings, the microbiota has proven to be a key modulator of carcinogenic processes and the immune response against cancer cells, potentially influencing the effectiveness of immunotherapy. In our study, we characterized culturable microorganisms associated with non-small cell lung cancer (NSCLC) that can be recovered from rectal swabs and mouthwash. In addition, we also explored differences in the culturable microbiota with two main types of NSCLC - adenocarcinoma (ADC) and squamous cell carcinoma (SCC). With 141 patients included in the study (86 ADC and 55 SCC cases), a significant difference was observed between the two types in seven bacterial species (Collinsella, Corynebacterium, Klebsiella, Lactobacillus, Neisseria, Rothia, and Streptococcus), including the site of origin. The relationship between microbial dysbiosis and lung cancer is poorly understood; future research could shed light on the links between gut microbiota and lung cancer development.
- MeSH
- Adenocarcinoma * MeSH
- Humans MeSH
- Microbiota * MeSH
- Lung Neoplasms * microbiology pathology MeSH
- Carcinoma, Non-Small-Cell Lung * microbiology pathology MeSH
- Carcinoma, Squamous Cell * MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
Papilární cystický adenolymfom, obyčejně nazývaný Warthinův tumor (WT), je s až 25% relativním zastoupením druhým nejčastějším benigním nádorem slinných žláz. Bývá lokalizován ponejvíce v gl. parotis a jejím bezprostředním okolí, kde vychází ze salivárních inkluzí v intra- a paraparotických uzlinách. Jeho výskyt v horní části aerodigestivního traktu je mimořádně vzácný, v nosohltanu bylo dosud dokumentováno jen 11 případů. V práci uvádíme kazuistiku 61leté ženy, kuřačky, u které byl WT lokalizován při nazofaryngeálním ostiu levé Eustachovy trubice. Na základě vlastního pozorování a přehledu literatury se zabýváme klinickými aspekty této mimořádné vzácné neoplazie.
Papillary cystic adenolymphoma, usually called Warthin’s tumour (WT), is the second most common benign salivary gland tumour with a relative incidence of up to 25%. Typically, it is localized in the parotid gland or in its proximity where it arises from salivary inclusions entrapped in the intra- and paraparotic lymph nodes. In the upper aerodigestive tract, the WT occurs very rarely. In the postnasal space, only 11 cases have been published in the literature so far. In this case, we bring a case report of a 61-year-old woman, a smoker, in whom the tumour was located at the nasopharyngeal ostium of the left Eustachian tube. Based on our case and review of relevant literature, we discuss clinical aspects of this extraordinary rare neoplasia.
- MeSH
- Adenolymphoma * diagnostic imaging diagnosis classification pathology MeSH
- Diagnostic Imaging methods MeSH
- Middle Aged MeSH
- Humans MeSH
- Head and Neck Neoplasms diagnosis classification pathology MeSH
- Salivary Gland Neoplasms diagnosis classification pathology MeSH
- Nasopharynx pathology MeSH
- Tomography, X-Ray Computed methods MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
BACKGROUND AND AIM: Gene defects contribute to the aetiology of intrahepatic cholestasis. We aimed to explore the outcome of whole-exome sequencing (WES) in a cohort of 51 patients with this diagnosis. PATIENTS AND METHODS: Both paediatric (n = 33) and adult (n = 18) patients with cholestatic liver disease of unknown aetiology were eligible. WES was used for reassessment of 34 patients (23 children) without diagnostic genotypes in ABCB11, ATP8B1, ABCB4 or JAG1 demonstrable by previous Sanger sequencing, and for primary assessment of additional 17 patients (10 children). Nasopharyngeal swab mRNA was analysed to address variant pathogenicity in two families. RESULTS: WES revealed biallelic variation in 3 ciliopathy genes (PKHD1, TMEM67 and IFT172) in 4 clinically unrelated index subjects (3 children and 1 adult), heterozygosity for a known variant in PPOX in one adult index subject, and homozygosity for an unreported splice-site variation in F11R in one child. Whereas phenotypes of the index patients with mutated PKHD1, TMEM67, and PPOX corresponded with those elsewhere reported, how F11R variation underlies liver disease remains unclear. Two unrelated patients harboured different novel biallelic variants in IFT172, a gene implicated in short-rib thoracic dysplasia 10 and Bardet-Biedl syndrome 20. One patient, a homozygote for IFT172 rs780205001 c.167A>C p.(Lys56Thr) born to first cousins, had liver disease, interpreted on biopsy aged 4y as glycogen storage disease, followed by adult-onset nephronophthisis at 25y. The other, a compound heterozygote for novel frameshift variant IFT172 NM_015662.3 c.2070del p.(Met690Ilefs*11) and 2 syntenic missense variants IFT172 rs776310391 c.157T>A p.(Phe53Ile) and rs746462745 c.164C>G p.(Thr55Ser), had a severe 8mo cholestatic episode in early infancy, with persisting hyperbilirubinemia and fibrosis on imaging studies at 17y. No patient had skeletal malformations. CONCLUSION: Our findings suggest association of IFT172 variants with non-syndromic cholestatic liver disease.
- MeSH
- Adaptor Proteins, Signal Transducing genetics MeSH
- Cholestasis * genetics MeSH
- Cytoskeletal Proteins genetics MeSH
- Flavoproteins genetics MeSH
- Genotype MeSH
- Cholestasis, Intrahepatic * genetics diagnosis MeSH
- Humans MeSH
- Mitochondrial Proteins genetics MeSH
- Mutation MeSH
- Protoporphyrinogen Oxidase genetics MeSH
- Exome Sequencing MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
Úvod a cíl: Primární diagnostika distálních biliárních striktur může být někdy svízelná a obtížná. Je známo, že kartáčková cytologie (BC – brush cytology) má v těchto případech nízkou diagnostickou senzitivitu. Fluorescenční in situ hybridizace (FISH) byla popsána jako užitečná doplňková metoda u pacientů se strikturami žlučových cest. Cílem naší studie bylo stanovit diagnostickou výtěžnost BC, FISH a jejich kombinace (BC + FISH) v primární diagnostice distálních biliárních striktur. Metodika: Tato prospektivní studie byla provedena v období od dubna 2019 do ledna 2021. Do studie byli postupně zařazeni pacienti s dosud nebioptovanými biliárními strikturami, kteří podstoupili první endoskopickou retrográdní cholangiopankreatografii (ERCP) na našem pracovišti. Byly provedeny cytologické a FISH analýzy vzorků tkáně odebraných ze dvou standardizovaných transpapilárních odběrů „kartáčkem“ z distálních striktur. Postoperační histologie nebo výsledky 12měsíčního sledování pacientů byly považovány za zlatý standard pro stanovení konečné diagnózy. Výsledky: Do studie bylo zařazeno celkem 109 pacientů. Sedm pacientů bylo z konečné analýzy vyřazeno a 26 mělo proximální stenózu. Ze zbývajících 76 pacientů (61,8 % mužů, průměrný věk 67,6 let, rozmezí 25–89 let) s distální stenózou byl podíl benigních a maligních striktur 25 (32,9 %), resp. 51 (67,1 %). Z podskupiny maligních striktur tvořilo 17,7 % cholangiokarcinom, 74,5 % nádory pankreatu a 7,8 % jiné nádory. Ve srovnání se samotnou BC zvýšila FISH senzitivitu z 0,373 % na 0,706 % (p = 0,0007) při mírném poklesu specificity (p = 0,045). Závěr: Duální modalita hodnocení tkáně pomocí BC + FISH má lepší senzitivitu pro primární diagnózu distálních biliárních striktur ve srovnání se samotnou BC.
Background and aim: Primary diagnosis of the distal biliary stricture can be sometime difficult. Brush cytology (BC) is known to have low diagnostic sensitivity in these cases. Fluorescence in situ hybridization (FISH) has been reported as a useful adjunctive test in patients with biliary strictures. We aimed to determine performance characteristics of BC, FISH and their combination (BC + FISH) in the primary diagnosis of distal biliary strictures. Methods: This single-center prospective study was conducted between April 2019 and January 2021. Consecutive patients with unsampled biliary strictures undergoing first ERCP in our institution were included. Cytological and FISH analysis of tissue specimens from two standardized transpapillary brushings from the distal strictures were provided. Histopathological confirmation after surgery or 12-month follow-up was regarded as the reference standard for the final diagnosis. Results: A total of 109 patients were enrolled. Seven patients were lost from the final analysis and 26 suffered proximal stenosis. Of the 76 remaining patients (61.8% males, mean age 67.6, range 25–89 years) with distal stenosis, the proportions of benign and malignant strictures were 25 (32.9%) and 51 (67.1%), respectively. Of the subgroup of malignant strictures, 17.7% were cholangiocarcinoma, 74.5% were pancreatic tumors and 7.8% others. In comparison to BC alone, FISH increased the sensitivity from 0.373% to 0.706% (p = 0.0007) with a slight decrease in specificity (p = 0.045). Conclusions: Dual modality tissue evaluation using BC + FISH has better sensitivity for the primary diagnosis of distal biliary strictures, compared to BC alone.
Background and aims: Diagnosis of the biliary stricture remains a challenge. In view of the low sensitivity of brush cytology (BC), fluorescence in situ hybridization (FISH) has been reported as a useful adjunctive test in patients with biliary strictures. We aimed to determine performance characteristics of BC and FISH individually and in combination (BC + FISH) in the primary diagnosis of biliary strictures. Methods: This single-center prospective study was conducted between April 2019 and January 2021. Consecutive patients with unsampled biliary strictures undergoing first endoscopic retrograde cholangiopancreatography in our institution were included. Tissue specimens from two standardized transpapillary brushings from the strictures were examined by routine cytology and FISH. Histopathological confirmation after surgery or 12-month follow-up was regarded as the reference standard for final diagnosis. Results: Of 109 enrolled patients, six were excluded and one lost from the final analysis. In the remaining 102 patients (60.8% males, mean age 67.4, range 25-92 years), the proportions of benign and malignant strictures were 28 (27.5%) and 74 (72.5%), respectively. The proportions of proximal and distal strictures were 26 (25.5%) and 76 (74.5%), respectively. In comparison to BC alone, FISH increased the sensitivity from 36.1% to 50.7% (p = 0.076) while maintaining similar specificity (p = 0.311). Conclusions: Dual-modality tissue evaluation using BC + FISH showed an improving trend in sensitivity for the primary diagnosis of biliary strictures when compared with BC alone.
- Publication type
- Journal Article MeSH
Krvácení do horního gastrointestinálního traktu KHGIT se vyskytuje s incidencí 47:100 000, přičemž v 8–10 % případů se setkáváme s perzistujícím nebo rekurentním krvácením. Kazuistika prezentuje případ pacientky s KHGIT u níž opakovaný pokus o endoskopickou hemostázu selhal a pro oběhovou nestabilitu byla provedena chirurgická hemostáza. Následovaly opakované epizody KHGIT a komplikace v podobě dehiscence gastrotomie, která si vyžádala další operační revizi. Opakovaná gastroskopická ošetření ani transkatetrová arteriální embolizace TAE nevedli k definitivní hemostáze. Při další operační revizi se vzhledem k nekróze přední žaludeční stěny stala totální gastrektomie posledním možným řešením, po němž se dále známky KHGIT neobjevily.
Upper gastrointestinal bleeding UGIB has an incidence of 47 per 100,000 population, and 8-10% of cases with persistent or recurrent bleeding. In this case report, the authors present a case of a patient with UGIB that cannot be stopped endoscopically, and surgical hemostasis was needed for hemodynamic instability. Recurrent episodes of UGIB and complications such as dehiscent gastrotomy resulted in the subsequent surgical revision. Repeated endoscopic intervention and transcatheter arterial embolization TAE failed to achieve definitive hemostasis. This situation resulted in the subsequent surgical revision, where the anterior gastric wall necrosis was detected, and total gastrectomy was the only possible resolution. The signs of UGIB did not appear.
