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Orbit (Amsterdam, Netherlands) Oct 2023
Topics: Humans; Orbit; Liposarcoma; Orbital Neoplasms; Orbit Evisceration
PubMed: 34470545
DOI: 10.1080/01676830.2021.1966814 -
Biomedicines Feb 2024The ocular involvement of neuroendocrine neoplasms (NENs) is uncommon and mainly represented by metastases from gastrointestinal and lung neuroendocrine tumors. Primary... (Review)
Review
BACKGROUND
The ocular involvement of neuroendocrine neoplasms (NENs) is uncommon and mainly represented by metastases from gastrointestinal and lung neuroendocrine tumors. Primary orbital NENs are even less common and their diagnostic and therapeutic management is a challenge.
METHODS
A systematic review of the literature was conducted from 1966 to September 2023 on PubMed to identify articles on orbital NENs and to summarize their clinical-pathological features, diagnosis and therapeutic management. Furthermore, we presented a case of a locally advanced retro-orbital primary neuroendocrine tumor that was referred to the certified Center of Excellence of Sant'Andrea Hospital, La Sapienza University of Rome, Italy.
RESULTS
The final analysis included 63 records on orbital NENs and 11 records focused on primary orbital NENs. The localization was mostly unilateral and in the right orbit; proptosis or exophthalmos represented the initial symptoms. The diagnostic work-up and therapeutic management was discussed and a diagnostic algorithm for the suspicion of primary orbital NENs was proposed.
CONCLUSIONS
A multidisciplinary approach is required for the management of primary orbital NENs, emphasizing the importance of early referral to dedicated centers for prompt differential diagnosis, tailored treatment, and an improved quality of life and survival.
PubMed: 38397981
DOI: 10.3390/biomedicines12020379 -
Dermatopathology (Basel, Switzerland) Sep 2023(1) Background: Endocrine Mucin-Producing Sweat Gland Carcinoma (EMPSGC) is a rare, low-grade, neuroendocrine-differentiated, cutaneous adnexal tumor, officially... (Review)
Review
(1) Background: Endocrine Mucin-Producing Sweat Gland Carcinoma (EMPSGC) is a rare, low-grade, neuroendocrine-differentiated, cutaneous adnexal tumor, officially recognized by the World Health Organization (WHO) Skin Tumors Classification in 2018 as a separate entity and homologue of endocrine ductal carcinoma in situ (eDCIS)/solid papillary carcinoma of the breast. Although it is more frequent in the female sex, between 60 and 70 years old, in the peri-orbital region, EMPSGC has also been described in the male sex, in subjects under 60 and over 80, and in extra-eyelid localizations (cheek, temple, scalp), but also in extra-facial localizations (chest and scrotum). (2) Methods: We present the clinical case of a 71-year-old woman with an undated lesion of the scalp, which presented as a nodule, skin-colored, and 2.5 cm in maximum diameter. We also conduct a comprehensive literature review from 1997 to the end of 2022, consulting PubMed, Scopus, Web of Science (WoS), and Google Scholar using the following keywords: "Endocrine mucin-producing sweat gland carcinoma" and/or "EMPSGC" and/or "skin" and "cutaneous neoplasms". In addition, we followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A total of 253 patients were recorded; 146 were females (57.7%) and 107 were males (42.2%). The vast majority of the lesions were in the eyelids (peri-ocular region), and only a minority of cases involved the cheeks, supra-auricular, retro-auricular, and occipital region, with very rare cases in the scalp, to which the present is also added. (4) Conclusions: The morphological and immunophenotypical features are essential both for the correct diagnosis and to be able to classify this lesion among the corresponding eDCIS/solid papillary carcinoma of the breast, with neuroendocrine differentiation. Recent papers have attempted to shed light on the molecular features of EMPSGC, and much remains to be conducted in the attempt to subtype the molecular profiles of these entities. Future studies with large case series, and especially with molecular biology techniques, will be needed to further add information about EMPSGC and its relationship in the PCMC spectrum.
PubMed: 37754277
DOI: 10.3390/dermatopathology10030035 -
Canadian Journal of Ophthalmology.... Oct 2023We assessed the utility of apparent diffusion coefficients (ADCs) derived from diffusion-weighted imaging to differentiate benign and malignant orbital tumours by...
OBJECTIVE
We assessed the utility of apparent diffusion coefficients (ADCs) derived from diffusion-weighted imaging to differentiate benign and malignant orbital tumours by oculoplastic surgeons in the clinical setting and sought to validate observed ADC cut-off values.
DESIGN AND PARTICIPANTS
Retrospective review of patients with benign or malignant biopsy-confirmed orbital tumours.
METHODS
Blinded graders including 2 oculoplastic surgeons, 1 neuroradiologist, and 1 medical student located and measured orbital tumour ADCs (10 mm/s) using the Region of Interest tool.
OUTCOME MEASURES
Nonradiologist measurements were compared with each other to assess reliability and with an expert neuroradiologist measurement and final pathology to assess accuracy.
RESULTS
Twenty-nine orbital tumours met inclusion criteria, consisting of 6 benign tumours and 23 malignant tumours. Mean ADC values for benign orbital tumours were 1430.59 ± 254.81 and 798.68 ± 309.12 mm/s for malignant tumours. Our calculated optimized ADC cut-off to differentiate benign from malignant orbital tumours was 1120.84 × 10 mm/s (sensitivity 1, specificity 0.9). Inter-rater reliability was excellent (intraclass correlation coefficient = 0.92; 95% CI, 0.86-0.96). Our 3 graders had a combined accuracy of 84.5% (92.3%, 92.3%, and 65.4%).
CONCLUSIONS
Our ADC cut-off of 1120.84 × 10 mm/s for benign and malignant orbital tumours agrees with previously established values in literature. Without priming with instructions, training, or access to patient characteristics, most tumours were correctly classified using rapid ADC measurements. Surgeons without radiologic expertise can use the ADC tool to quickly risk stratify orbital tumours during clinic visits to guide patient expectations and further work-up.
Topics: Humans; Orbital Neoplasms; Sensitivity and Specificity; Reproducibility of Results; Diagnosis, Differential; Diffusion Magnetic Resonance Imaging
PubMed: 35525263
DOI: 10.1016/j.jcjo.2022.04.008 -
Archivos de La Sociedad Espanola de... Aug 2023Teratomas are gonadal or extragonadal neoplasms, derived from the three embryonic tissues, composed of germ cells of the neuroectoderm, mesoderm and ectoderm. Congenital...
Teratomas are gonadal or extragonadal neoplasms, derived from the three embryonic tissues, composed of germ cells of the neuroectoderm, mesoderm and ectoderm. Congenital orbital teratoma (OCT) commonly affects the left orbit, primarily affecting women over men at a ratio of 2:1. We present the case of a female patient of 9 days of extrauterine life with a left mature congenital orbital teratoma. The orbit and oculoplastic service performed an orbital exenteration and total resection of the tumor mass.
Topics: Male; Humans; Female; Orbital Neoplasms; Teratoma; Orbit; Orbit Evisceration
PubMed: 37247665
DOI: 10.1016/j.oftale.2023.05.011 -
Cureus Jul 2023Paranasal sinus mucoceles are epithelium-lined cystic masses usually resulting from obstruction of sinus ostia. They most frequently occur in the frontal and ethmoid...
BACKGROUND
Paranasal sinus mucoceles are epithelium-lined cystic masses usually resulting from obstruction of sinus ostia. They most frequently occur in the frontal and ethmoid sinuses. The etiology is not clarified, but the most common identifiable cause of mucoceles following functional endoscopic sinus surgery (FESS), trauma, neoplasms, and allergy. The clinical symptoms of mucocele vary and are not specific, the most common being ophthalmic symptoms and headache, impinging on adjacent orbital structures, and causing ophthalmic sequelae such as double vision, commonly followed by orbital swelling, epiphora, proptosis, and ptosis. All patients in this study had frontal and frontoethmoidal mucocele and initially complained of frontal headache and ophthalmic symptoms. Definitive treatment options for paranasal sinus mucoceles include external approaches and endoscopic marsupialization. Objective: The study aimed to identify the etiology, clinical presentation, most common para nasal sinus affected by mucocele, management, and the rate of recurrence in eight cases with mucocele of the paranasal sinuses.
METHODS
Eight patients diagnosed with mucocele of the paranasal sinuses were admitted to our institution between 2014 and 2021. There were two females and six males aged between 14 and 67. Initial symptoms, duration, clinical presentation upon admission, location of the mucocele, type of surgical intervention, and outcome have all been studied. Results: The most common symptoms at diagnosis were orbital involvement, retrobulbar, and frontal headache. Most patients were diagnosed with frontal mucocele (40%), and three were frontoethmoidal mucocele at the time of presentation. The rest of the cases were diagnosed with ethmoidal mucocele (25%). The etiology was identified in four patients and was unclear in the rest. All patients underwent endoscopic sinus surgery. The most identifiable postoperative complication was a headache.
CONCLUSIONS
The endonasal endoscopic approach is a safe and effective treatment for paranasal sinus mucocele and provides adequate drainage with a low recurrent rate.
PubMed: 37593272
DOI: 10.7759/cureus.41986 -
Scientific Data Aug 2023Alternative splicing is an important mechanism that enhances protein functional diversity. To date, our understanding of alternative splicing variants has been based on...
Alternative splicing is an important mechanism that enhances protein functional diversity. To date, our understanding of alternative splicing variants has been based on mRNA transcript data, but due to the difficulty in predicting protein structures, protein tertiary structures have been largely unexplored. However, with the release of AlphaFold, which predicts three-dimensional models of proteins, this challenge is rapidly being overcome. Here, we present a dataset of 315 predicted structures of abnormal isoforms in 18 uveal melanoma patients based on second- and third-generation transcriptome-sequencing data. This information comprises a high-quality set of structural data on recurrent aberrant isoforms that can be used in multiple types of studies, from those aimed at revealing potential therapeutic targets to those aimed at recognizing of cancer neoantigens at the atomic level.
Topics: Humans; Alternative Splicing; Melanoma; Protein Isoforms; Uveal Neoplasms
PubMed: 37542084
DOI: 10.1038/s41597-023-02429-z -
F1000Research 2023Introduction Orbital lipoma is an extremely rare tumor, representing less than 1% of all orbital tumors. We review the literature and describe the presentation, the...
Introduction Orbital lipoma is an extremely rare tumor, representing less than 1% of all orbital tumors. We review the literature and describe the presentation, the differential diagnosis and the management of this tumor. Case report We report the case of a 63-year-old patient who was referred for a diplopia with recent hemi-cranial headache. Physical examination showed no exophthalmos nor decrease in visual acuity. The patient complained of diplopia on elevation and oculomotricity examination showed limited elevation of the right eye. The Hess Lancaster test was in favor of a limited course of the right inferior rectus muscle. Magnetic resonance imaging revealed a fusiform tissue process in the right inferior rectus muscle with a fatty signal. A complete excision of the tumor was performed by a trasncunjonctival approach. Cytopathological examination was consistent with a pleomorphic lipoma. The postoperative period was uneventful. The definitive histopathologic diagnosis was a lipoma. The postoperative Magnetic resonance imaging showed the complete disappearance of the lesion. With 3 years of follow up, there is no sign of recurrence or ocular motility trouble. Lipomas are rare tumors in the orbit. The clinic is variable depending on the size and the site. The clinical diagnosis is difficult to make. Only histology allows the final diagnosis.
Topics: Humans; Middle Aged; Orbital Neoplasms; Magnetic Resonance Imaging; Lipoma; Male
PubMed: 38726301
DOI: 10.12688/f1000research.130056.2 -
Chemico-biological Interactions Dec 2023Lignans are plant-derived polyphenolic compounds with a plethora of biological applications. Also, regarded as phytoestrogens, the lignans offer a variety of health... (Review)
Review
Lignans are plant-derived polyphenolic compounds with a plethora of biological applications. Also, regarded as phytoestrogens, the lignans offer a variety of health benefits of which the anti-cancer effects are the most attractive. Honokiol is a lignan isolated from various parts of trees belonging to the genus Magnolia. The bioactivity of honokiol is attributed to its characteristic physical properties, which include small size and the presence of two phenolic groups that may interact with proteins in cell membranes via hydrophobic interactions, aromatic pi orbital co-valency, and hydrogen bonding. The hydrophobicity of honokiol enables its rapid dissolution in lipids and the crossing of physiological barriers, including the blood-brain barrier and cerebrospinal fluid. These factors contribute towards the high bioavailability of honokiol which further support its candidature in medicinal research. Therefore, the anticancer properties of honokiol are of particular interest as many of the contemporary anticancer drugs suffer from bioavailability drawbacks, which necessitates the identification and development of novel candidate molecules directed as anticancer chemotherapeutics. The antioncogenic profile of honokiol also arises from the regulation of various signalling pathways associated with oncogenesis, arresting of the cell cycle by regulation of cyclic proteins, upregulation of epithelial markers and downregulation of mesenchymal markers leading to the inhibition of epithelial-mesenchymal transition, and preventing the metastasis by restricting cell migration and invasion due to the downregulation of matrix-metalloproteinases. In this review, we discuss the anticancer properties of honokiol.
Topics: Humans; Lignans; Neoplasms; Phenols; Biphenyl Compounds; Structure-Activity Relationship; Cell Line, Tumor
PubMed: 37816447
DOI: 10.1016/j.cbi.2023.110747 -
Indian Journal of Otolaryngology and... Dec 2023Cavernous hemangioma of orbit is a benign, noninfiltrative, slowly progressive vascular neoplasm. It is usually asymptomatic but patients may present with proptosis and...
UNLABELLED
Cavernous hemangioma of orbit is a benign, noninfiltrative, slowly progressive vascular neoplasm. It is usually asymptomatic but patients may present with proptosis and diminished vision due to compression of second cranial nerve, optic nerve. This can be usually diagnosed with the help of clinical examination and computed tomography (CT) or magnetic resonance imaging (MRI). Small sized tumours are worth wait and watch while large ones need surgical excision. In our case report, A 65-year-old male patient presented to the head and neck surgery with proptosis of left eye since 5 years along with decreased vision since 4 years. MDCT scan (orbits plain) suggestive of large solid retroocular, intraconal mass in left orbit leading to proptosis of left eyeball. The patient underwent excision of tumour through a transnasal endoscopic approach. Histopathological examination of the tumour identified as cavernous hemangioma. It is safe and effective way to access and excise the orbital tumours through the transnasal endoscopic approach. It is essential to have experienced surgeon in endoscopic procedures. The patient had satisfactory results at three months follow up and showed no symptoms or relapse on CT scans of orbital region.
SUPPLEMENTARY INFORMATION
The online version contains supplementary material available at 10.1007/s12070-023-03984-y.
PubMed: 37974857
DOI: 10.1007/s12070-023-03984-y