Genes Chromosomes Cancer
September 2024
Extraskeletal myxoid chondrosarcoma (EMC) is an ultra-rare cancer that makes up less than 3% of all soft tissue sarcomas. It most often arises in the soft tissues of the proximal limbs and has a higher incidence in males. Though EMC has a good prognosis, it has an indolent course with high rates of local recurrence as well as metastasis to the lungs.
View Article and Find Full Text PDFOne-third of pediatric patients with osteosarcoma (OS) develop lung metastases (LM), which is the primary predictor of mortality. While current treatments of patients with localized bone disease have been successful in producing 5-year survival rates of 65-70%, patients with LM experience poor survival rates of only 19-30%. Unacceptably, this situation that has remained unchanged for 30 years.
View Article and Find Full Text PDFLoss of histone H3K27 Trimethylation (H3K27me3) immunohistochemical expression is commonly used as an ancillary test and a surrogate marker for the diagnosis of malignant peripheral nerve sheath tumor (MPNST). A potential histological mimic of MPNST is sarcomatoid carcinoma. Prompted by an index specimen of sarcomatoid carcinoma with H3K27me3 loss and the lack of literature on such phenomenon, we sought to determine the frequency of H3K27me3 loss of expression in a cohort of sarcomatoid carcinomas.
View Article and Find Full Text PDFMyxofibrosarcoma is a locally aggressive sarcoma that characteristically arises in the extremities of older patients. Cases arising at a younger age are rare, leading to diagnostic challenges. Our aim was to study the clinicopathologic features of myxofibrosarcoma in patients aged ≤40 years.
View Article and Find Full Text PDFThe anaplastic lymphoma kinase (ALK) gene encodes a receptor tyrosine kinase, and fusions involving this gene have been reported in a variety of mesenchymal neoplasms. ALK-altered tumors with epithelioid morphology have been described in epithelioid inflammatory myofibroblastic sarcoma and epithelioid fibrous histiocytoma. Herein, we describe the clinicopathologic features of 7 ALK-rearranged mesenchymal tumors with epithelioid morphology occurring predominately in the pediatric population.
View Article and Find Full Text PDFOsteoid osteomas typically arise in the long bones of extremities. Patients often report pain relieved by NSAIDS, and radiographic findings are often sufficient for diagnosis. However, when involving the hands/feet, these lesions may go unrecognized or misdiagnosed radiographically due to their small size and prominent reactive changes.
View Article and Find Full Text PDFMalakoplakia is a rare granulomatous tumor-like inflammatory condition, most frequently involving the genitourinary system and occurring in immunosuppressed patients. The gastrointestinal tract is the second most common site, where it is usually seen involving the colon. We report a case of malakoplakia presenting as a pancreatic mass.
View Article and Find Full Text PDFAims: Ossifying fibromyxoid tumor (OFMT) is a rare enigmatic tumor of uncertain differentiation that can be classified as typical, atypical, and malignant subtypes based on cellularity, nuclear grade, and mitotic activity. The majority of OFMTs, regardless of the risk of malignancy, harbor genetic translocations. We report two malignant OFMTs, including one with evidence of dedifferentiation, with novel genefusions.
View Article and Find Full Text PDFPleomorphic liposarcoma (PLPS) is a highly aggressive sarcoma comprising variable numbers of pleomorphic lipoblasts mixed with undifferentiated pleomorphic sarcoma (UPS)-like areas. Morphologic variants, such as myxofibrosarcoma-like or epithelioid, may cause diagnostic confusion, especially on a core biopsy, but there are few data on the prognostic significance of these features. A total of 120 PLPS biopsies and resection specimens were reviewed and catalogued based on the presence of myxofibrosarcoma-like, UPS-like, and epithelioid foci, in 10% increments.
View Article and Find Full Text PDFJuxtaglomerular cell tumors (JGCTs) are rare, typically benign neoplasms; only rare cases are clinically or histologically malignant. We herein report the histologic, immunophenotypic, and molecular features of a clinically unsuspected, diagnostically challenging case of malignant JGCT in a 23-year-old man. The diagnosis is confirmed with electron microscopy.
View Article and Find Full Text PDFAneurysmal bone cyst (ABC) is a benign bone neoplasm that usually affects the metaphysis of long bones and the posterior elements of vertebral bodies. The rearrangement of USP6 gene is present in most of primary ABC cases. Synchronous polyostotic presentation is extremely rare.
View Article and Find Full Text PDFBackground: Craniofacial fibrous dysplasia (CFD) typically occurs in the facial bones and anterior cranial vault and can produce both disfigurement and functional limitations for patients disfigurement. Treatment consists of reducing the abnormal bone. Bone contouring can become challenging when the exposure does not extend to the corresponding normal contralateral structures for comparison or when normal landmarks are not available, which may compromise the overall aesthetic outcome.
View Article and Find Full Text PDFUnlabelled: This study investigated the effects of a beet nitric oxide enhancing (NOE) supplement comprised of nitrite and nitrate on cycling performance indices in trained cyclists.
Methods: Subjects completed a lactate threshold test and a high-intensity interval (HIIT) protocol at 50% above functional threshold power with or without oral NOE supplement.
Results: NOE supplementation enhanced lactate threshold by 7.