Next-Generation Sequencing in the Diagnosis of Rare Pediatric Sinonasal Tumors.

We report 2 patients with such rare tumors and describe the use of next-generation sequencing in their evaluation. A 3-year-old female had a 4.4-cm midline nasal cavity mass involving the bony septum and extending into the base of the skull bilaterally. The moderate cellular fibroblastic proliferation revealed areas of thick keloid-like collagen bands and other areas with myxoid edematous stroma. Deep targeted sequencing identified a novel G34V mutation in the CTNNB1 gene consistent with desmoid fibromatosis. An 11-month-old male infant presented with a right nasal mass that extended through the cribriform plate into the anterior cranial fossa and involved the right ethmoid sinus and adjacent right orbit. Histology revealed an infiltrative atypical fibrous proliferation with focal calcifications that was negative for CTNNB1 and GNAS mutations. A novel RET E511K variant was identified in the tumor and later was also found in the germline and hence rendered of unknown significance. Both cases highlight the utility of next-generation sequencing in the evaluation of pediatric sinonasal spindle cell tumors that may have overlapping pathologic features. Reporting of rare or novel variants in tumor-only sequencing should be cautiously evaluated in children and pairing with germline sequencing may be needed to avoid the pitfall of assigning uncommon variants. PMID: 31550935 [PubMed - as supplied by publisher]
Source: Ear, Nose and Throat Journal - Category: ENT & OMF Authors: Tags: Ear Nose Throat J Source Type: research

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The objective of the present study is to report the case of a 27-years-old female patient, presenting a lesion in the mandible, complaining of an increased volume. Surgical excision was the treatment of choice. The patient is 24 months postoperatively with no signs of relapse.RESUMEN El fibroma osificante perif érico es una lesión benigna, nodular, firme a la palpación, de base sésil o pediculada, de color similar a la mucosa y al epitelio; puede estar intacto o ulcerado. Se observa más en mujeres y acomete solamente la encía. La lesión se asocia a factores irritantes, como ...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - Category: Pathology Source Type: research
Abstract Koebner phenomenon refers to the emergence of new psoriatic lesions in the healthy skin regions following an injury/trauma to psoriatic patients. The occurrence of psoriatic lesions at unusual areas of the body regions such as on penis, around eyes and on keloids suggests that the Koebner phenomenon may be responsible for these lesions. A number of agents/triggers have been reported to induce the development of new psoriatic lesions in healthy skin areas and these include, tattooing skin, radiations, skin incision, viral infections, and striae, etc. The different mechanisms that contribute in inducin...
Source: Bioscience Reports - Category: Biomedical Science Authors: Tags: Biosci Rep Source Type: research
Publication date: Available online 8 November 2019Source: Diagnostic and Interventional ImagingAuthor(s): P.-F. Montoriol, B. Bayol
Source: Diagnostic and Interventional Imaging - Category: Radiology Source Type: research
CONCLUSIONS: IL-10 was shown to be able to significantly inhibit the proliferation of keloid fibroblasts, which was explicitly and strongly suggestive of its potential therapeutic effect in the management of keloid. PMID: 31696499 [PubMed - in process]
Source: European Review for Medical and Pharmacological Sciences - Category: Drugs & Pharmacology Tags: Eur Rev Med Pharmacol Sci Source Type: research
We present a rare occurrence of Chondromyxoid fibroma (CMF) in proximal 3rd humerus. 28 year old male with proximal humeral pain had a lesion in the proximal 3rd humerus on X-ray. Since, it appeared as benign lesion and small in size (radiologically looked like intra-osseous ganglion) we decided for excisional biopsy. The histopathological examination revealed that it was Chondromyxoid fibroma.
Source: Current Medicine Research and Practice - Category: General Medicine Source Type: research
Rationale Keloids, dermal fibroproliferative lesions, often occur secondary to skin injury and extend beyond the margins of the original lesion. Aggressive fibromatosis (AF) is a rare condition arising from fibroblasts and is characterized clinically as a nonmetastasizing but locally invasive tumor. In this work, we present the case of a patient who developed AF in the chest 3 years after surgery and postoperative radiotherapy for keloids. Patient Concerns A 15-year-old female patient who underwent surgery and postoperative radiotherapy for keloids presented with AF in the chest 3 years after intervention. Diagnoses ...
Source: Annals of Plastic Surgery - Category: Cosmetic Surgery Tags: Review Paper Source Type: research
We report here two cases of SFS arising on the right scapular region and the right lower leg, respectively. Both cases were clinically similar to keloids. Skin surgeons should remember that SFSs are an important differential diagnosis from keloids. PMID: 30464146 [PubMed - in process]
Source: Journal of Nippon Medical School - Category: Universities & Medical Training Authors: Tags: J Nippon Med Sch Source Type: research
Polyfibromatosis is a rare syndrome in which patients may develop spontaneous keloid formation in association with penile, palmar, or plantar fibromatoses. Rare and aggressive forms of polyfibromatosis have been reported to cause erosive arthropathy. Here, we describe the case of a young man with spontaneous keloid formation and aggressive fibromatoses with erosive arthropathy resulting in amputation. A 23-year-old Caucasian man presented to our clinic with a history of multiple spontaneous keloids, contractures and nodules of the hands, and bilateral foot pain.
Source: Journal of the American Academy of Dermatology - Category: Dermatology Source Type: research
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Source: Pathology Research and Practice - Category: Pathology Source Type: research
Akshay Gopinathan Nair, Hemal Kenia, Indumati Gopinathan, Siddharth V Mehta, Vinod C MehtaIndian Journal of Ophthalmology 2018 66(5):699-701 A 56-year-old male patient presented with a slow-growing, elevated, smooth, white corneal mass. The mass was excised by performing an alcohol-assisted keratoepitheliectomy and sent for histopathological examination. Subepithelially, closely packed spindle cells in “feather-stitched” or storiform pattern were seen. Immunohistochemically, the cells stained negatively for CD-34 and S-100 and focal positivity was seen for vimentin. Based on the morphology and immunochemical s...
Source: Indian Journal of Ophthalmology - Category: Opthalmology Authors: Source Type: research
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