We present three adolescents with focal lesions of the distal femur that were shown to be benign aggregates of small lymphocytes and plasma cells of unknown origin. The patients were within the age of 12 and 14 years. All lesions presented with similar MRI findings and provided the same histopathological findings in the biopsy. Although all lesions increased in size, only one patient remained symptomatic and underwent subsequent tumor resection. To our best knowledge, tumor or pseudotumoral epiphyseal lymphoid infiltrates as seen in these three patients have not previously been described. We recommend a biopsy to rule out a malignant tumor or an infection. Observation, without further invasive testing in asymptomatic patients, is recommended until the resolution of the lesions. However, if a lesion becomes symptomatic, surgical resection should be considered.
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http://dx.doi.org/10.1007/s00256-020-03595-6 | DOI Listing |
Skeletal Radiol
April 2021
Orthopaedic surgery, Balgrist University Hospital, Forchstrasse 340, 8008, Zürich, Switzerland.
We present three adolescents with focal lesions of the distal femur that were shown to be benign aggregates of small lymphocytes and plasma cells of unknown origin. The patients were within the age of 12 and 14 years. All lesions presented with similar MRI findings and provided the same histopathological findings in the biopsy.
View Article and Find Full Text PDFOrphanet J Rare Dis
October 2018
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, China.
Background: Wiedemann-Steiner syndrome (WDSTS) is a rare genetic disorder characterized by facial gestalt, neurodevelopmental delay, skeletal anomalies and growth retardation, which is caused by variation of KMT2A gene. To date, only 2 Chinese WDSTS patients have been reported. Here, we report the phenotypes and KMT2A gene variations in 14 unrelated Chinese WDSTS patients and investigate the phenotypic differences between the Chinese and French cohorts.
View Article and Find Full Text PDFToxicol Sci
June 2018
Drug Safety Evaluation, Bristol-Myers Squibb Research and Development, New Brunswick, New Jersey 08903.
The toxicity of avagacestat, a sulfonamide-based gamma (γ)-secretase inhibitor that was in development as a treatment for Alzheimer's disease, was evaluated in a comprehensive nonclinical toxicology program that included 6-month and 1-year repeat-dose toxicity studies in rats and dogs, respectively. There was a spectrum of mechanism-based changes attributed to inhibition of Notch signaling that regulates the differentiation and proliferation of cells throughout development and in adult tissues. In both rats and dogs, ovarian follicular degeneration and atrophy and a low incidence of granulosa cell hyperplasia and benign granulosa-thecal cell tumors were observed.
View Article and Find Full Text PDFJ Bone Miner Res
May 2015
Department of Biochemistry, University of Wisconsin-Madison, Madison, WI, USA.
Receptor activator of NF-κB ligand (RANKL) is a TNFα-like cytokine that is produced by a diverse set of lineage-specific cells and is involved in a wide variety of physiological processes that include skeletal remodeling, lymph node organogenesis, mammary gland development, and thermal regulation. Consistent with these diverse functions, control of RANKL expression is accomplished in a cell-specific fashion via a set of at least 10 regulatory enhancers that are located up to 170 kb upstream of the gene's transcriptional start site. Here we examined the in vivo consequence of introducing a contiguous DNA segment containing these components into a genetically deleted RANKL null mouse strain.
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