We have isolated a new marker (cos11-5TH) that detects an MspI restriction fragment length polymorphism in the 5' region of the human tyrosine hydroxylase gene (TH) on chromosome band 11p15.5. This region of human chromosome 11 contains several important loci for disease phenotypes including Beckwith-Wiedemann syndrome (BWS), Wilms' tumor, and embryonal rhabdomyosarcoma. Thus, identification of new polymorphic markers in this region are important for future gene mapping and linkage analyses. To better define the region of 11p15.5 deleted in embryonal rhabdomyosarcoma, this new marker was used to investigate allelic losses in embryonal rhabdomyosarcoma tumors.
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http://dx.doi.org/10.1007/BF00212038 | DOI Listing |
Genes Chromosomes Cancer
January 2025
Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children, presenting with heterogeneous clinical and molecular subtypes. While gene fusions are predominantly associated with alveolar RMS, spindle cell RMS, especially congenital and intraosseous variants, are also linked to specific gene fusions. Furthermore, recently, FGFR1 kinase-driven RMSs were published.
View Article and Find Full Text PDFJ Clin Ultrasound
January 2025
Department of Obstetrics, Paulista School of Medicine, Federal University of São Paulo (EPM-UNIFESP), São Paulo, SP, Brazil.
Cancer in pregnancy has an incidence of approximately 1:1000, and cases of sarcoma in pregnancy are rare, with only a few described in the literature. This case report describes a 32-year-old pregnant woman who noticed an approximately 3.0 cm nodule on her left flank in the second trimester of pregnancy.
View Article and Find Full Text PDFSci Rep
January 2025
Institute of Pharmacology, Medical University of Vienna, Vienna, Austria.
Pleomorphic rhabdomyosarcoma (PRMS) is an extremely rare soft tissue tumor with dismal prognosis that has a higher incidence in adults compared to the other RMS subtypes. The unique PRMS cell line BH1522 was established from a pleural effusion of a lung metastasis and the characteristics of this cell line were compared to two embryonal type RMS (ERMS) cell lines. The affected patient had been treated by surgery, several cycles of chemotherapy and thoracoscopy of the lung metastases.
View Article and Find Full Text PDFOrbit
January 2025
Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami, Miami, Florida, USA.
Introduction: Rhabdomyosarcoma (RMS) is a common pediatric orbital malignancy but is extremely rare in adults. This study assesses clinical and radiographic features, management, and outcomes in adult orbital RMS patients with comparison to pediatric patients.
Methods: A retrospective chart review from 2000-2023 at Bascom Palmer Eye Institute was conducted evaluating patients aged 0 to 100-years-old with biopsy-confirmed orbital RMS.
Clin Nucl Med
December 2024
From the Department of Nuclear Medicine (PET-CT Center), National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
A 21-year-old man with a 2-week history of abdominal pain and urinary hesitancy was admitted to our hospital. Sarcoma was suspected based on his PSA level, age, and MRI findings. He underwent 18F-FDG and Al18F-FAPI-74 PET/CT scans.
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