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Primary intracranial extraosseous Ewing's sarcoma with intraspinal metastasis in children: illustrative case.
J Neurosurg Case Lessons
January 2025
Department of Neurosurgery, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
Background: The diagnosis of intracranial extraosseous Ewing's sarcoma (EES) poses challenges due to the absence of specific clinical and imaging features prior to surgery. It is crucial to differentiate the tumor from other small round cell malignancies postoperatively.
Observations: A 7-year-old patient was admitted to the authors' hospital due to the in situ recurrence of a posterior fossa tumor more than 1 month after the initial surgery for headache.
MYCN-amplified spinal ependymomas: a rare aggressive subtype. Illustrative cases.
J Neurosurg Case Lessons
January 2025
Department of Radiology and Biomedical Imaging, University of California, San Francisco, California.
Background: Spinal ependymomas are typically slow-growing tumors with a favorable prognosis. Recently, a new aggressive subtype has emerged with its own distinct histopathological and molecular features characterized by MYCN amplification. However, this subtype of spinal ependymoma is rare, and studies on its imaging characteristics are limited.
View Article and Find Full Text PDFNeuroendocrine Tumors in Horseshoe Kidneys: A Review of the Literature With Report of a Novel Finding Expanding Their Morphologic Spectrum.
Adv Anat Pathol
November 2024
Department of Radiology, School of Medical Sciences, State University of Campinas (Unicamp), Campinas, Brazil.
Horseshoe kidney is a rare congenital anomaly with an unusually higher frequency of neuroendocrine tumors. Symptoms are rare, and, in most of the cases, are incidentally diagnosed. The clinical behavior of these tumors is heterogeneous and can be difficult to predict based on histology alone.
View Article and Find Full Text PDFUncommon Breast Metastasis From Rectal Carcinoma Clearly Revealed on 68Ga-FAPI-04 PET/CT.
Clin Nucl Med
January 2025
From the Department of Nuclear Medicine, West China Hospital of Sichuan University, Chengdu, Sichuan Province, People's Republic of China.
Breast metastasis from rectal carcinoma is very rare. We report a case of imaging findings of breast metastasis in a 31-year-old woman who underwent laparoscopic radical tumor resection 8 months ago. 68Ga-FAPI-04 PET/CT and 18F-FDG PET/CT showed 4 small breast nodules with intense 68Ga-FAPI uptake (SUVmax, 9.
View Article and Find Full Text PDFLeveraging cancer mutation data to inform the pathogenicity classification of germline missense variants.
PLoS Genet
January 2025
Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.
Innovative and easy-to-implement strategies are needed to improve the pathogenicity assessment of rare germline missense variants. Somatic cancer driver mutations identified through large-scale tumor sequencing studies often impact genes that are also associated with rare Mendelian disorders. The use of cancer mutation data to aid in the interpretation of germline missense variants, regardless of whether the gene is associated with a hereditary cancer predisposition syndrome or a non-cancer-related developmental disorder, has not been systematically assessed.
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