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Acta Neuropathologica Communications Mar 2020Brain tumors represent the second most frequent etiology in patients with focal seizure onset before 18 years of age and submitted to epilepsy surgery. Hence, this... (Review)
Review
Brain tumors represent the second most frequent etiology in patients with focal seizure onset before 18 years of age and submitted to epilepsy surgery. Hence, this category of brain tumors, herein defined as low-grade, developmental, epilepsy-associated brain tumors (LEAT) is different from those frequently encountered in adults as (A): 77% of LEAT occur in the temporal lobe; (B): the vast majority of LEAT are of low malignancy and classified as WHO I°; (C): LEAT are often composed of mixed glial and neuronal cell components and present with variable growth patterns including small cysts or nodules; (D): LEAT do not share common gene driving mutations, such as IDH1 or 1p/19q co-deletions. Characteristic entities comprise the ganglioglioma (GG), the dysembryoplastic neuroepithelial tumor (DNT), the angiocentric glioma (AG), the isomorphic diffuse glioma (IDG) and the papillary glio-neuronal tumor (PGNT), representing 73.2% of 1680 tumors collected in a large German series of 6747 patients submitted to epilepsy surgery. In the realm of exciting discoveries of genetic drivers of brain tumors new genes have been also reported for LEAT. BRAF V600E mutations were linked to GG with CD34 expression, FGFR1 mutations to DNT, MYB alterations to AG and also IDG and PRKCA fusions to PGNT, suggesting the possibility to also develop a genetically driven tumor classification scheme for LEAT. Rare availability of LEAT in a single center is a challenging obstacle, however, to systematically unravel the neurobiological nature and clinical behavior of LEAT. Other challenges in need of clarification include malignant tumor progression of LEAT entities, seizure relapse in patients following bulk tumor resection and the controversial issue of associated focal cortical dysplasia as additional pathomechanism. In order to advance our understanding and promote reliable diagnostic work-up of LEAT, we recommend, therefore, international collaboration to achieve our goals.
Topics: Arachnoid Cysts; Astrocytoma; Brain Neoplasms; Central Nervous System Cysts; Dermoid Cyst; Epidermal Cyst; Epilepsies, Partial; Ganglioglioma; Humans; Molecular Diagnostic Techniques; Neoplasm Grading; Neoplasms, Neuroepithelial; Oligodendroglioma; Protein Kinase C-alpha; Proto-Oncogene Proteins; Proto-Oncogene Proteins B-raf; Proto-Oncogene Proteins c-myb; Receptor, Fibroblast Growth Factor, Type 1; Trans-Activators
PubMed: 32151273
DOI: 10.1186/s40478-020-00904-x -
Ultrasound in Obstetrics & Gynecology :... Oct 2022To describe the clinical and ultrasound features of ovarian mature cystic teratomas (MCTs). (Review)
Review
OBJECTIVE
To describe the clinical and ultrasound features of ovarian mature cystic teratomas (MCTs).
METHODS
This was a retrospective study. From the International Ovarian Tumor Analysis (IOTA) database, we identified patients with a histologically confirmed diagnosis of MCT who had undergone transvaginal ultrasound examination between 1999 and 2016 (IOTA phases 1, 2, 3 and 5) in one of five centers. Ultrasound was performed by an experienced examiner who used the standardized IOTA examination technique and terminology. In addition to extracting data from the IOTA database, available two-dimensional grayscale and color or power Doppler images were reviewed retrospectively to identify typical ultrasound features of MCT described previously and detect possible new features using pattern recognition. All images were reviewed by two independent examiners and further discussed with two ultrasound experts to reach consensus.
RESULTS
Included in the study were 454 patients with histologically confirmed MCT. Median age was 33 (range, 8-90) years and 66 (14.5%) patients were postmenopausal. Most MCTs were described by the original ultrasound examiner as unilocular (262/454 (57.7%)) or multilocular (70/454 (15.4%)) cysts with mixed echogenicity of cystic fluid (368/454 (81.1%)), acoustic shadowing (328/454 (72.2%)) and no or little vascularization on color Doppler (color score 1, 240/454 (52.9%); color score 2, 123/454 (27.1%)). The median largest lesion diameter was 66 (range, 15-310) mm. A correct preoperative diagnosis of MCT was suggested by the original ultrasound examiner in 372/454 (81.9%) cases. On retrospective review of ultrasound images of 334 MCTs that had quality sufficient for assessment, 'dots and/or lines' and/or 'echogenic white ball' (typical features according to the literature) were present in 271/334 (81.1%) masses. We identified four new ultrasound features characteristic of MCT: 'cotton wool tufts', 'mushroom cap sign', 'completely hyperechogenic lesion' and 'starry sky sign'. At least one classical or novel ultrasound feature was present in 315/334 (94.3%) MCTs. Twenty-nine (8.7%) MCTs manifested vascularized solid tissue, of which seven exhibited no typical features.
CONCLUSION
We provide a comprehensive overview of conventional and newly described ultrasound features of MCTs. Only a small proportion of MCTs did not manifest any of the typical features. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Adult; Female; Genital Diseases, Female; Humans; Ovarian Neoplasms; Pregnancy; Retrospective Studies; Teratoma; Ultrasonography; Ultrasonography, Doppler, Color
PubMed: 35316568
DOI: 10.1002/uog.24904 -
Abdominal Radiology (New York) May 2023Adnexal masses during pregnancy are a relatively uncommon entity. Their clinical management is challenging given the overlapping features of certain entities on imaging... (Review)
Review
Adnexal masses during pregnancy are a relatively uncommon entity. Their clinical management is challenging given the overlapping features of certain entities on imaging and histopathology, which can mimic malignancy, and the potential side effects to the mother and fetus, whether expectant management versus surgery is pursued. Ultrasonography with Doppler evaluation is the modality of choice for evaluating adnexal masses during pregnancy. Magnetic resonance imaging is the second-line modality useful when US findings are inconclusive/indeterminate. Most adnexal masses in pregnant patients are benign in origin (e.g., functional cysts, mature cystic teratoma, decidualization of endometrioma), but a few are malignant in origin (e.g., dysgerminoma, granulosa cell tumor). Most cases of adnexal masses are asymptomatic, but complications such as ovarian torsion can occur. This review aims to familiarize the radiologist with the imaging of adnexal lesions during pregnancy so that the radiologist can identify ovarian cancer. Specifically, the review will detail the most common benign and malignant adnexal masses in pregnancy, mimickers, and their corresponding imaging findings on US and MRI.
Topics: Pregnancy; Humans; Female; Ovarian Neoplasms; Adnexal Diseases; Magnetic Resonance Imaging; Granulosa Cell Tumor; Dermoid Cyst
PubMed: 36538079
DOI: 10.1007/s00261-022-03768-y -
Indian Journal of Ophthalmology Feb 2022Dermoid cyst, a developmental benign choristoma, is the most common orbital tumor of childhood, arising from ectodermal sequestration along the lines of embryonic fusion...
BACKGROUND
Dermoid cyst, a developmental benign choristoma, is the most common orbital tumor of childhood, arising from ectodermal sequestration along the lines of embryonic fusion of mesodermal processes, lined by keratinized stratified squamous epithelium and expanding slowly due to constant desquamation and dermal glandular elements. Approximately 80% are found in the head and neck region and comprise 3-9% all orbital masses.
PURPOSE
It is mandatory to know about the variable presentations of orbital dermoids and the surgical techniques that can be adopted based on the site, extent, age and aesthetic needs, presence of inflammation and possibility of intraoperative rupture.
SYNOPSIS
Orbital dermoids can be classified as juxta-sutural, sutural or soft tissue cysts; superficial or deep; intraosseous or extraosseous, and intraorbital or extraorbital. These smooth, painless, mobile or partially mobile lesions mostly present at the fronto-zygomatic suture with proptosis, displacement, ptosis or diplopia, depending on depth and extent. Therefore, it is important to understand the various presentations and the appropriate surgical techniques.
HIGHLIGHTS
We describe the embryological origin, types and clinical features of dermoids in this video and demonstrate the surgical and minimally invasive techniques for their management.
VIDEO LINK
https://youtu.be/-q3xD2igjcQ.
Topics: Blepharoptosis; Choristoma; Dermoid Cyst; Humans; Orbital Diseases; Orbital Neoplasms
PubMed: 35086291
DOI: 10.4103/ijo.IJO_145_22 -
Laryngo- Rhino- Otologie May 2024The following review article highlights key topics in pediatric rhinology that are currently the focus in research and at conferences as well as in the interdisciplinary... (Review)
Review
The following review article highlights key topics in pediatric rhinology that are currently the focus in research and at conferences as well as in the interdisciplinary discussion between otorhinolaryngologists and pediatricians. In particular, congenital malformations such as choanal atresia or nasal dermoid cysts are discussed, followed by statements on the current procedures for sinogenic orbital complications as well as on the diagnosis and therapy of chronic rhinosinusitis in children. Furthermore, updates on the role of the ENT specialist in the care for children with cystic fibrosis and primary ciliary dyskinesia are provided.
Topics: Humans; Child; Choanal Atresia; Rhinitis; Sinusitis; Dermoid Cyst; Cystic Fibrosis; Chronic Disease
PubMed: 38697148
DOI: 10.1055/a-2178-2957 -
Journal of Cancer Research and... 2022Ovarian squamous cell carcinoma is a rare and aggressive ovarian neoplasm, where most of the cases arise from mature teratoma, which represents up to 20% of all ovarian...
Ovarian squamous cell carcinoma is a rare and aggressive ovarian neoplasm, where most of the cases arise from mature teratoma, which represents up to 20% of all ovarian tumors. Moreover, primary squamous cell carcinoma is considered to be related to human papillomavirus infection. The diagnosis is difficult and metastasis from bladder, genital tract, lung, and digestive tract cancers must be ruled out. There are no guidelines for treatment, however, radical surgery combined with adjuvant chemotherapy and radiation therapy, are the most common approach. We present the case of a young women diagnosed with a de novo ovarian squamous cell carcinoma, as well as the treatment and follow-up that she received.
Topics: Carcinoma, Ovarian Epithelial; Carcinoma, Squamous Cell; Chemotherapy, Adjuvant; Female; Humans; Ovarian Neoplasms; Teratoma
PubMed: 35900555
DOI: 10.4103/jcrt.JCRT_562_20 -
The Journal of Pediatrics Nov 2023
Topics: Humans; Dermoid Cyst; Nose Neoplasms; Nose; Fistula
PubMed: 36822508
DOI: 10.1016/j.jpeds.2023.01.022 -
The Journal of Craniofacial SurgeryEpidermoid and dermoid cysts are benign developmental anomalies that can form anywhere in the body. Despite the rarity of incidence in the head and neck, they can arise... (Review)
Review
BACKGROUND
Epidermoid and dermoid cysts are benign developmental anomalies that can form anywhere in the body. Despite the rarity of incidence in the head and neck, they can arise at a variety of craniofacial locations. The purpose of this study was to analyze the clinical features of epidermoid and dermoid cysts arising in the craniofacial region with a literature review.
METHODS
A retrospective study was designed, and clinical features and surgical considerations were investigated from a literature review. Cases of epidermoid cysts in the scalp, temporal area, glabellar area, mouth floor, and buccal mucosa were described.
RESULTS
Dermoid cysts in more lateral regions of the scalp are rarely associated with intracranial extension. Because temporal dermoid cysts have a high rate of intracranial extension, radiological evaluation of the lesions in the temporal area is imperative. Epidermoid cysts in the glabellar area are usually superficial. Consideration of the surgical approach for an epidermoid cyst of the mouth floor is important. Because epidermoid cysts in the buccal mucosa are extremely rare, differential diagnosis was emphasized. Epidermoid cysts in the scalp, in the temporal intradiploic area, on the glabellar area in the periorbital region, in the mouth floor, and in the buccal mucosa were surgically excised considering the depth and location. Ten cases of epidermoid cysts in the buccal mucosa were retrieved from the literature review.
CONCLUSIONS
Consideration of the anatomic locations of epidermoid and dermoid cysts in the craniofacial region might help facilitate accurate diagnosis and treatment.
Topics: Humans; Epidermal Cyst; Dermoid Cyst; Retrospective Studies; Face; Scalp
PubMed: 37487139
DOI: 10.1097/SCS.0000000000009561