Syphilis, known as "the great mimicker," is caused by the spirochete Treponema pallidum and is characterized by a diverse array of clinical and histopathologic presentations. In secondary cutaneous syphilis, the most consistent morphological features include a superficial and deep perivascular infiltrate containing plasma cells, varying degrees of endothelial swelling, irregular acanthosis, elongation of rete ridges, a vacuolated pattern, and the presence of plasma cells. Although serologic tests are essential for definitive diagnosis, spirochetes can sometimes be directly identified in silver-stained tissue slides or through immunohistochemistry. Granuloma annulare is a relatively common, benign, self-limiting condition with 3 main variants: conventional, subcutaneous, and interstitial, each with distinct characteristics. In this study, we report 2 cases of cutaneous secondary syphilis with a striking granulomatous reaction pattern that closely mimics the interstitial variant of granuloma annulare. Owing to the severity of the tertiary stage of syphilis, distinguishing between these 2 entities is crucial.
- MeSH
- anulární granulom * patologie diagnóza mikrobiologie MeSH
- diferenciální diagnóza MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- syfilis kožní patologie diagnóza mikrobiologie MeSH
- syfilis * diagnóza patologie mikrobiologie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
AIMS: Sinonasal adenosquamous carcinoma (ASC) is a rare tumour classified as a variant of squamous cell carcinoma, exhibiting both squamous and glandular differentiation. ASC has a poorer prognosis compared to sinonasal mucoepidermoid carcinoma (MEC), another uncommon tumour in this region. ASC is believed to originate from metaplastic squamous epithelium, though it may also arise from respiratory epithelium in respiratory epithelial adenomatoid hamartoma (REAH) or seromucinous glands in seromucinous hamartoma (SH). METHODS AND RESULTS: Five cases of sinonasal ASC were retrieved from our registry. Initially, they were classified as sinonasal MEC (n = 3), ASC (n = 2), and carcinoma ex REAH (n = 1). All cases showed adenosquamous malignant proliferation beneath the surface respiratory epithelium with occasional squamous metaplasia, except for one case that showed dysplasia. The respiratory epithelium exhibited an inverted growth pattern consistent with REAH/SH, and displayed atypical sinonasal glands (ASGSH) arising within seromucinous hamartoma. Next-generation sequencing (NGS) revealed multiple pathogenic mutations in two cases, and in case 4 GGA2::PRKCB and EYA2::SERINC3 gene fusions. One case was positive for high-risk HPV. None of the cases exhibited CRTC1/3::MAML2 gene fusion. CONCLUSION: The connection between ASGSH and ASC has not been described in the literature. There is a growing need for additional studies on the morphological, immunohistochemical, and genetic aspects of these tumours. SH/REAH may serve as precursor lesions in the progression of atypical sinonasal glands to malignancy, and their role in tumour development deserves further investigation.
- MeSH
- adenoskvamózní karcinom * patologie genetika MeSH
- dospělí MeSH
- hamartom * patologie genetika MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory vedlejších dutin nosních patologie genetika MeSH
- respirační sliznice patologie MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Adenoid cystic carcinomas (AdCC) of salivary gland origin have long been categorized as fusion-defined carcinomas owing to the almost universal presence of the gene fusion MYB::NFIB , or less commonly MYBL1::NFIB. Sinonasal AdCC is an aggressive salivary gland malignancy with no effective systemic therapy. Therefore, it is urgent to search for potentially targetable genetic alterations associated with AdCC. We have searched the authors' registries and selected all AdCCs arising in the sinonasal tract. The tumors were examined histologically, immunohistochemically, by next generation sequencing (NGS) and/or fluorescence in situ hybridization (FISH) looking for MYB/MYBL1 and/or NFIB gene fusions or any novel gene fusions and/or mutations. In addition, all tumors were tested for HPV by genotyping using (q)PCR. Our cohort comprised 88 cases of sinonasal AdCC, predominantly characterized by canonical MYB::NFIB (49 cases) and MYBL1::NFIB (9 cases) fusions. In addition, noncanonical fusions EWSR1::MYB ; ACTB::MYB; ESRRG::DNM3 , and ACTN4::MYB were identified by NGS, each of them in 1 case. Among nine fusion-negative AdCCs, FISH detected rearrangements in MYB (7 cases) , NFIB (1 case), and EWSR1 (1 case). Six AdCCs lacked fusions or gene rearrangements, while 11 cases were unanalyzable. Mutational analysis was performed by NGS in 31/88 (35%) AdCCs. Mutations in genes with established roles in oncogenesis were identified in 21/31 tumors (68%), including BCOR (4/21; 19%), NOTCH1 (3/21; 14%), EP300 (3/21; 14%), SMARCA4 (2/21; 9%), RUNX1 (2/21; 9%), KDM6A (2/21; 9%), SPEN (2/21; 9%), and RIT1, MGA, RB1, PHF6, PTEN, CREBBP, DDX41, CHD2, ROS1, TAF1, CCD1, NF1, PALB2, AVCR1B, ARID1A, PPM1D, LZTR1, GEN1 , PDGFRA , each in 1 case (1/21; 5%). Additional 24 cases exhibited a spectrum of gene mutations of uncertain pathogenetic significance. No morphologic differences were observed between AdCCs with MYBL1::NFIB and MYB::NFIB fusions. Interestingly, mutations in the NOTCH genes were seen in connection with both canonical and noncanonical fusions, and often associated with high-grade histology or metatypical phenotype, as well as with poorer clinical outcome. Noncanonical fusions were predominantly observed in metatypical AdCCs. These findings emphasize the value of comprehensive molecular profiling in correlating morphologic characteristics, genetic landscape, and clinical behavior in AdCC.
- MeSH
- adenoidně cystický karcinom * genetika patologie MeSH
- dospělí MeSH
- fenotyp MeSH
- fúze genů MeSH
- fúzní onkogenní proteiny genetika MeSH
- genetická predispozice k nemoci MeSH
- hybridizace in situ fluorescenční * MeSH
- imunohistochemie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mutace * MeSH
- mutační analýza DNA MeSH
- nádorové biomarkery * genetika MeSH
- nádory vedlejších dutin nosních * genetika patologie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- transkripční faktory NFI genetika MeSH
- vysoce účinné nukleotidové sekvenování * MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Two benign adenomatous lesions are commonly recognized within the sinonasal tract, namely respiratory epithelial adenomatoid hamartoma (REAH) and seromucinous hamartoma (SH). We present 10 hitherto unrecognized benign polypoid nasal and sinonasal tumoriform lesions having in average 3.6 cm in largest dimension, which are histogenetically related to SH and REAH. In addition to typical structures of REAH and SH, these lesions contained an additional characteristic and slightly atypical adenomatous component, which we termed atypical sinonasal glands arising in SH (ASGSH). ASGSH often produced deep red colored secretion with peripheral clearing similar to that seen in thyroid follicles. In contrast to SH, ASGSH was endowed by both secretory and myoepithelial layers and had mostly angulated shapes with snout-like protrusions into the lumens. Both layers were formed by an irregular, disorganized, and often incomplete cell lining, which had slightly atypical cytological features without mitoses. In 3 cases, ASGSHs revealed sebaceous differentiation, and in 3 cases the stroma produced a well-differentiated cartilage. Neoplastic nature of ASGSH was supported by finding of various mutations as revealed by next generation sequencing in five cases. In two cases each, we found identical mutations in BRAF gene (Val600Glu), and RET gene (Arg912Trp), respectively and in one case FAT1 gene alteration (Pro1665Leu).
- MeSH
- adenom patologie genetika MeSH
- dospělí MeSH
- hamartom * patologie genetika MeSH
- lidé středního věku MeSH
- lidé MeSH
- mutace MeSH
- nádory nosu patologie genetika MeSH
- nádory vedlejších dutin nosních patologie genetika MeSH
- respirační sliznice patologie MeSH
- senioři nad 80 let MeSH
- senioři 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
SMARCB1-deficient sinonasal adenocarcinoma is a rare variant of SWI/SNF-deficient malignancies with SMARCB1 loss and adenocarcinoma features. More than 200 high-grade epithelial sinonasal malignancies were retrieved. A total of 14 cases exhibited complete SMARCB1 (INI1) loss and glandular differentiation. SMARCA2 and SMARCA4 were normal, except for one case with a loss of SMARCA2. Next-generation sequencing (NGS) and/or fluorescence in situ hybridization (FISH) revealed an alteration in the SMARCB1 gene in 9/13 cases, while 2/13 were negative. Two tumors harbored SMARCB1 mutations in c.157C > T p.(Arg53Ter) and c.842G > A p.(Trp281Ter). One harbored ARID1B mutations in c.1469G > A p.(Trp490Ter) and MGA c.3724C > T p.(Arg1242Ter). Seven tumors had a SMARCB1 deletion. One carried an ESR1 mutation in c.644-2A > T, and another carried a POLE mutation in c.352_374del p.(Ser118GlyfsTer78). One case had a PAX3 mutation in c.44del p.(Gly15AlafsTer95). Histomorphology of SMARCB1-deficient adenocarcinoma was oncocytoid/rhabdoid and glandular, solid, or trabecular in 9/14 cases. Two had basaloid/blue cytoplasm and one showed focal signet ring cells. Yolk sac tumor-like differentiation with Schiller-Duval-like bodies was seen in 6/14 cases, with 2 cases showing exclusively reticular-microcystic yolk sac pattern. Follow-up of a maximum of 26 months (median 10 months) was available for 8/14 patients. Distant metastasis to the lung, liver, mediastinum, bone, and/or retroperitoneum was seen in 4/8 cases. Locoregional failure was seen in 75% of patients, with 6/8 local recurrences and 3 cervical lymph node metastases. At the last follow-up, 5 of 8 (62%) patients had died of their disease 2 to 20 months after diagnosis (median 8.2 months), and 3 were alive with the disease. The original diagnosis was usually high-grade non-intestinal-type adenocarcinoma or high-grade myoepithelial carcinoma. A correct diagnosis of these aggressive tumors could lead to improved targeted therapies with potentially better overall disease-specific survival.
- MeSH
- adenokarcinom * genetika patologie MeSH
- diferenciální diagnóza MeSH
- DNA vazebné proteiny genetika nedostatek MeSH
- dospělí MeSH
- gen SMARCB1 * nedostatek genetika MeSH
- hybridizace in situ fluorescenční MeSH
- lidé středního věku MeSH
- lidé MeSH
- mutace * MeSH
- myoepiteliální nádor * genetika patologie MeSH
- nádorové biomarkery genetika MeSH
- nádory vedlejších dutin nosních * genetika patologie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- stupeň nádoru MeSH
- transkripční faktory * genetika nedostatek MeSH
- vysoce účinné nukleotidové sekvenování 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
OBJECTIVES: Malignant tumors of the nasopharynx make up 3% of malignancies in the ENT area. The most common nasopharyngeal malignancy is nasopharyngeal carcinoma (NPC), followed by lymphomas. Other nasopharyngeal tumors are very rare. In this study, we aimed to assess the age distribution and behavior of the primary nasopharyngeal malignancies, NPC, and lymphoma over a ten-year period in a tertiary hospital patient group. DESIGN: Retrospective cohort study. MATERIAL AND METHODS: A total of 48 patients participated in this retrospective monocentric study. The group consisted of 13 females (27.1%) and 35 males (72.9%) diagnosed with nasopharyngeal malignancy and treated between 2012 and 2022. The patients' ages ranged from 14 to 83 years, with a mean age of 57.5 and a median of 55 years. The variables monitored in the study were histology, symptoms (such as nasal obstruction, Eustachian tube function, presence of glue ear, neck mass, weight loss), smoking status, TNM classification, and survival. RESULTS: In NPC grading and staging, two statistically significant variables were found to be associated with survival: distant metastases (p < 0.0001) and stage of the process (p = 0.0153). We did not find age and gender to be significant variables for lymphomas (p = 0.4066; p = 0.1797, respectively) or for NPC (p = 0.8630; p = 0.0573, respectively). Neither did we find any significant cut-off levels. In our analysis of therapy, we discovered that the use of chemoradiotherapy and palliative care in the NPC group is statistically significantly connected with disease-specific survival (p = 0.0094; p = 0.0004). This, however, was not the case in the lymphoma group. For the NPC group, we found statistically significant symptoms only in weight loss (p = 0.0081) and smoking (p = 0.0483). CONCLUSION: Our research confirmed that nasopharyngeal tumors are rare, with the most common type being nasopharyngeal carcinoma. In our patient group, 76.9% of cases involved nasopharyngeal cancer, which was five times more common in men than in women, and typically occurred in individuals over the age of 50. Lymphomas and other tumors accounted for less than a quarter of the cases. The overall five-year survival rate for nasopharyngeal malignancies in our group was 42.3%. We also observed an interesting gender perspective: 75% of women (6 women) survived for five years, whereas 72.2% of men died within five years of diagnosis.
- MeSH
- dospělí MeSH
- karcinom patologie terapie epidemiologie mortalita MeSH
- lidé středního věku MeSH
- lidé MeSH
- lymfom epidemiologie terapie mortalita MeSH
- mladiství MeSH
- mladý dospělý MeSH
- nádory nosohltanu * terapie mortalita patologie epidemiologie MeSH
- nasofaryngeální karcinom terapie mortalita patologie MeSH
- retrospektivní studie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- staging nádorů MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Respiračný epiteliálny adenomatoidný hamartóm (REAH) je zriedkavá benígna lézia pochádzajúca z epitelu sliznice nazálnej dutiny a prínosových dutín. V práci opisujeme prípad 51-ročného muža s anamnézou pretrvávajúceho sťaženého dýchania a pocitu upchatého nosa. Diagnostikovanú mal veľkú polypovitú masu v pravom nosovom priechodne so stopkou vyrastajúcou z čuchovej štrbiny. Makroskopicky išlo kompaktný polyp rozmerov 40 × 32 × 10 mm s hladkým povrchom. Histologické vyšetrenie potvrdilo diagnózu REAH s ložiskovo výraznou prevahou žľazových štruktúr s prechodom do seromucinózneho hamartómu. Po operácii klinické ťažkosti ustúpili a pacient je v súčasnosti bez známok recidívy. Napriek zriedkavému výskytu by mal byť REAH zahrnutý v diferenciálnej diagnostike sinonazálnych polypovitých más, najmä ak pochádzajú zo zadnej časti nazálneho septa alebo olfaktoriálnej štrbiny. Včasné rozpoznanie a správna diagnóza predchádzajú zbytočným agresívnym chirurgickým intervenciám a ďalším zaťažujúcim vyšetreniam.
Respiratory epithelial adenomatoid hamartoma (REAH) is a rare benign lesion originating from the mucosal epithelium of the nasal cavity and paranasal sinuses. We describe a 51-year-old man with a history of persistent difficulty breathing and feeling of stuffy nose. He was diagnosed to have a large polypoid mass in the right nasal cavity with a stalk arising from the olfactory cleft. Grossly, it was a compact polyp measuring 40 × 32 × 10 mm with a smooth surface. The histology confirmed the diagnosis of REAH with predominance of glandular structures with a transition to seromucinous hamartoma. After the operation, the clinical problems had disappeared and the patient was free of recurrence. Despite rare occurrence, REAH should be included in the differential diagnosis of sinonasal polypoid masses, especially of those which originate from the posterior part of the nasal septum or olfactory cleft. Early recognition and correct diagnosis prevent unnecessary aggressive surgery and other burdensome examinations.
- Klíčová slova
- respirační epitelový adenomatoidní hamartom,
- MeSH
- adenom chirurgie diagnostické zobrazování patologie MeSH
- diferenciální diagnóza MeSH
- endoskopie MeSH
- hamartom * chirurgie diagnostické zobrazování patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- nosní polypy chirurgie diagnostické zobrazování patologie MeSH
- paranazální dutiny * chirurgie diagnostické zobrazování patologie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Branchioma is an uncommon benign neoplasm with an adult male predominance, typically occurring in the lower neck region. Different names have been used for this entity in the past (ectopic hamartomatous thymoma, branchial anlage mixed tumor, thymic anlage tumor, biphenotypic branchioma), but currently, the term branchioma has been widely accepted. Branchioma is composed of endodermal and mesodermal lineage derivatives, in particular epithelial islands, spindle cells, and mature adipose tissue without preexistent thymic tissue or evidence of thymic differentiation. Twenty-three branchiomas were evaluated morphologically. Eighteen cases with sufficient tissue were assessed by immunohistochemistry, next-generation sequencing (NGS) using the Illumina Oncology TS500 panel, and fluorescence in situ hybridization (FISH) using an RB1 dual-color probe. All cases showed a biphasic morphology of epithelial and spindle cells with intermingled fatty tissue. Carcinoma arising in branchioma was detected in three cases. The neoplastic cells showed strong AE1/3 immunolabeling (100%), while the spindle cells expressed CD34, p63, and SMA (100%); AR was detected in 40-100% of nuclei (mean, 47%) in 14 cases. Rb1 showed nuclear loss in ≥ 95% of neoplastic cells in 16 cases (89%), while two cases revealed retained expression in 10-20% of tumor cell nuclei. NGS revealed a variable spectrum of likely pathogenic variants (n = 5) or variants of unknown clinical significance (n = 6). Loss of Rb1 was detected by FISH in two cases. Recent developments support branchioma as a true neoplasm, most likely derived from the rudimental embryological structures of endoderm and mesoderm. Frequent Rb1 loss by immunohistochemistry and heterozygous deletion by FISH is a real pitfall and potential confusion with other Rb1-deficient head and neck neoplasms (i.e., spindle cell lipoma), especially in small biopsy specimens.
- MeSH
- branchiom * patologie MeSH
- dospělí MeSH
- hybridizace in situ fluorescenční MeSH
- lidé MeSH
- molekulární biologie MeSH
- nádory brzlíku * MeSH
- nádory glandulární a epitelové * MeSH
- nádory měkkých tkání * patologie MeSH
- nádory sítnice * MeSH
- retinoblastom * genetika patologie MeSH
- thymom * MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
A 56-year-old female was referred to our service for management of a malignant salivary gland neoplasm with compromised margins that had been biopsied previously at another service. The patient reported a twenty-year history of a lesion in the oral cavity with progressive and exuberant growth over the past two years, associated with local pain and dyspnea. Physical examination revealed an erythematous, ulcerated, and hemorrhagic lesion measuring approximately 3 cm on the left soft palate and tonsillar pillar. Computed tomography revealed an expansile lesion in the topography of the left soft palate, growing predominantly toward the lumen of the nasopharynx and partially invading the left wall of this region. The patient underwent surgery and histopathologic examination revealed an infiltrative and aggressive epithelial neoplasia with large vacuolated and eosinophilic cytoplasm, vesicular nuclei, and prominent nucleoli. The neoplastic cells were arranged in a solid, microcystic, tubular, and follicular pattern with eosinophilic luminal secretion. Mitotic figures were frequent and all margins were affected by the neoplasia. Morphologic and immunohistochemical features supported the diagnosis of secretory carcinoma, and the patient is currently being followed for further therapeutic intervention.
BACKGROUND/AIM: Hearing impairment affects a small but significant percentage of newborns (0.1-0.4%). Newborn hearing screening (NHS) is recommended for early detection and treatment. The implementation of NHS can vary among countries. In this study, we present the methodology, organization, and technical requirements of NHS. This study analyzed results from a tertiary hospital, identified issues, and proposed solutions. PATIENTS AND METHODS: In the studied region, there are five maternity hospitals and a perinatal intensive care center and in 2020, there were 5,864 live births. Screening is performed at three levels. The first screening is conducted on the 2nd-3rd day of a newborn's life in a maternity hospital, the first rescreening on the 3rd-6th week at a relevant ENT department, and the second rescreening on the 3rd-6th month of life at the regional screening center where the central database is also held. RESULTS: In the studied region, 5,793 out of 5,864 (98.79%) newborns received NHS in 2020. Of these, 120 (2.07%) were tested positive on their first screening. Ninety-four patients (78.3%) of those attended the ENT department for a first rescreening. Thirty-four patients (0.59% of total) were tested positive again and referred to the regional screening center. Out of the 27 patients who attended the second rescreening, four (0.07% of the total) were ultimately diagnosed with hearing impairment. CONCLUSION: Our study found that newborn hearing screening (NHS) in our region achieved a high compliance rate of 98.8% for initial screenings in 2020. However, challenges remain in the rescreening process due to data management issues, inter-regional cooperation, and public awareness. The recent implementation of mandatory screenings, updated guidelines, and a centralized database is expected to enhance the effectiveness of NHS. Further research is needed to evaluate these improvements.
- MeSH
- lidé MeSH
- nedoslýchavost * diagnóza epidemiologie MeSH
- novorozenec MeSH
- novorozenecký screening * metody MeSH
- sluchové testy * metody MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
