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Rhabdomyosarcoma (RMS) is a nonepithelial malignant tumor that differentiates into immature skeletal muscle. It is currently classified into 4 main subtypes according to the WHO classification. However, based on clinicopathological and molecular findings, there has been an increasing number of cases that do not fit into any of these subtypes. -rearranged RMS is a rare tumor with characteristic clinicopathological findings including a preference for the craniofacial bones, a spindle and epithelioid histomorphology, and positive immunohistochemistry for epithelial markers, ALK, and myogenic markers. In this report, we describe a rare case of RMS with fusion in the scalp of a 58-year-old man. Histologically, the tumor showed a biphasic pattern, with solid proliferation of round cells in the superficial areas and of spindle cells in the deep areas. Immunohistochemically, tumor cells were positive for pan keratin, myogenic markers (desmin, MYOD1, and myogenin), and ALK. Additionally, fluorescence hybridization using a break-apart probe revealed rearrangement. RMS with fusion was suspected, and the fusion gene was finally confirmed by target fusion sequencing. We believe that detailed histological, immunohistochemical, and genetic findings were important for the diagnosis. The unique traits of this tumor were the biphasic histological appearance consisting of round and spindle cells and development in the skin and soft tissue.
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http://dx.doi.org/10.1177/10668969221137517 | DOI Listing |
Indian J Thorac Cardiovasc Surg
September 2025
Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
Dermatofibrosarcoma protuberans (DFSP), a soft tissue neoplasm of intermediate grade not commonly encountered in oncology clinics, has been traditionally known for its locally aggressive nature and recurrence after surgical excision. This spindle cell neoplasm of fibro-histiocytic origin has one of its rare aggressive variants, pronounced by a high risk of local relapse and metastasis, recognized as fibrosarcomatous transformation of dermatofibrosarcoma protuberans (FS-DFSP). Here, we present a novel case of DFSP of the scalp which, after repeated local recurrences, transformed into an aggressive variant (FS-DFSP) with metastasis to the lungs.
View Article and Find Full Text PDFSci Adv
August 2025
Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Craniosynostosis is a common birth defect affecting 1 of the 2200 live births causing severe skull and cognitive defects, due to premature cranial suture fusion. The current surgical treatments require invasive calvaria vault remodeling and cranial bone resection in the baby. We demonstrate that inhibition of in mice results in coronal suture fusion (craniosynostosis).
View Article and Find Full Text PDFJ Transl Med
August 2025
School of Computer Science and Technology, Changchun University of Science and Technology, Changchun, 130022, China.
Background: Automated seizure detection based on scalp electroencephalography (EEG) can significantly accelerate the epilepsy diagnosis process. However, most existing deep learning-based epilepsy detection methods are deficient in mining the local features and global time series dependence of EEG signals, limiting the performance enhancement of the models in seizure detection.
Methods: Our study proposes an epilepsy detection model, CMFViT, based on a Multi-Stream Feature Fusion (MSFF) strategy that fuses a Convolutional Neural Network (CNN) with a Vision Transformer (ViT).
Virchows Arch
July 2025
Department of Pathology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
BCOR-rearranged sarcomas constitute ultra-rare tumors. Among these, ZC3H7A/B::BCOR sarcomas are less common and are primarily reported as a subset of high-grade endometrial stromal sarcomas, as well as in the spectrum of malignant ossifying fibromyxoid tumors (OFMTs). Herein, we present the clinicopathological, immunohistochemical, and molecular profiles of seven soft tissue tumors exhibiting ZC3H7A/B::BCOR fusions.
View Article and Find Full Text PDFAm J Dermatopathol
June 2025
IDP Institute for Dermatohistopathology, Pathology Institute Enge, Zurich, Switzerland.
Hidrocystomas and cystadenomas are benign tumors, with malignant transformation being exceptionally rare, most commonly reported in the periocular region. We present a rare case of adenocarcinoma in situ arising within an apocrine papillary cystadenoma of the scalp in a 53-year-old man, without an associated nevus sebaceus. Microscopically, the tumor appeared as a predominantly cystic lesion and was located in the deep dermis.
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