Clinicopathological and genetic findings of infantile nodular fasciitis.
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ABSTRACT:
SUBMITTER: Qiu Y
PROVIDER: S-EPMC8631378 | biostudies-literature | 2021 Sep
REPOSITORIES: biostudies-literature
Publications
Clinicopathological and genetic findings of infantile nodular fasciitis.
Qiu Yan Y Hu Xue X He Xin X Zeng Wen-Jing WJ Zhang Hong-Ying HY
Chinese medical journal 20210916 22
Similar Datasets
Project description:Analyses of gene expression profiling in Nodular fasciitis tumors harboring USP6 fusions
2016-06-30 | GSE78991 | GEO
Project description:Analyses of gene expression profiling in Nodular fasciitis tumors harboring USP6 fusions Total RNA was obtained from FFPE tissues tumors and profiled using Illumina expression arrays
2016-06-30 | E-GEOD-78991 | biostudies-arrayexpress
Project description:Nodular fasciitis (NF) is a rapidly growing cellular mass composed of fibroblasts/myofibroblasts, usually localized in subcutaneous tissues, that typically undergoes fibrosis and almost never recurs. Desmoid tumors (DT) are rare forms of fibroblastic/myofibroblastic growth that arise in deep soft tissues, display propensity for local infiltration and recurrence but fail to metastasize. Given that both entities are primarily fibroblastic/myofibroblastic lesions with overlapping histological features, we compared their gene expression profile to identify differentially expressed genes that may provide not only potential diagnostic markers but also clues as to the pathogenesis of each disorder. Differentially expressed transcripts (89 clones displaying increased expression in DT and 246 clones displaying increased expression in NF), included genes encoding several receptor and non-receptor tyrosine kinases (EPHB3, PTPRF, GNAZ, SYK, LYN, EPHA4, BIRC3), transcription factors (TWIST1, PITX2, EYA2, OAS1, MITF, TCF20), and members of the Wnt signaling pathway (AXIN2, WISP1, SFRP). Remarkably, almost one fourth of the differentially expressed genes encode proteins associated with inflammation and tissue remodeling, including members of the interferon (IFN), tumor necrosis factor (TNF) and transforming growth factor beta (TGF-beta) signaling pathways as well as metalloproteinases (MMP1, 9, 13, 23), urokinase plasminogen activator (PLAU) and cathepsins. Our observations provide the first comparative molecular characterization of desmoid tumors and nodular fasciitis and suggest that selected tyrosine kinases, transcription factors and members of the Wnt, TGF-beta, IFN and TNF signaling pathways may be implicated in influencing and distinguishing their fate. Keywords: comparative genomic hybridization
2005-08-20 | GSE3127 | GEO
Project description:The self-limited nature of nodular fasciitis (NF) is well-known but its precise mechanism has not yet been clarified. We observed that "young" NF (preoperative duration <1 month) consistently contains a higher percentage (~80%) of USP6 break-apart FISH signals than "old" NF (preoperative duration >3 months) (~20%). Thus, we hypothesized that our original observation may reflect a connection with the self-limited nature of NF. Seventeen cases with reliable data concerning the onset were selected, thus approximating the lifetime of each tumor. Besides the USP6 interphase FISH examination, we also checked the most common MYH9-USP6 fusion using RT-PCR. Because of the known pathways of the tumorigenesis of NF, the mRNA level of USP6, TRAIL, IFN-beta, JAK1, STAT1, STAT3, JUN, and CDKN2A was measured using qRT-PCR. Regarding proteins, USP6, p16, p27, TRAIL, and IFN-beta were examined using immunohistochemistry. Targeted gene panel next-generation sequencing (NGS) of three cases was additionally performed. We found a strong negative correlation (p = 0.000) between the lifetime and percentage of USP6 break-apart signals and a strong positive relationship (p = 0.000) between USP6 break-apart signals and mitotic counts. Results of immunostainings, along with qRT-PCR results, favored the previously-suggested USP6-induced negative feedback mechanism through activation of TRAIL and IFN-beta, likely resulting in apoptosis and senescence of tumor cells harboring USP6 fusions. Targeted-NGS resulted in the detection of several variants, but no additional recurrent changes in the pathogenesis of these tumors. We revealed on a cellular level the USP6-induced negative feedback mechanism. In conclusion, we emphasize that in "old" NF, the percentage of USP6 break-apart FISH signals can be as low as 14-27% which can be very important from a differential diagnostic point of view. We emphasize that a careful examination and interpretation of the NGS data is needed before clinical decision-making on treatment.
| S-EPMC8592838 | biostudies-literature
Project description:This is a report of a 43-year-old man with nodular fasciitis of the little finger. Nodular fasciitis with its feature of rapid growth and aggressive histological appearance is often mistaken for a malignant neoplasm and rarely involves fingers.
| S-EPMC2724623 | biostudies-other
Project description:Proliferative myositis (PM) and nodular fasciitis (NF) are two diseases easily misdiagnosed as cancer, often promoting unnecessary invasive procedures. To make accurate diagnoses of PM and NF and for the differential diagnosis between them, we performed a retrospective study to evaluate the roles of the clinical, radiologic, and pathologic characteristics of PM and NF. With an emphasis on the clinicopathologic and radiologic characteristics, we conducted a retrospective study of 8 cases of PM and 64 cases of NF that were diagnosed between 2012 and 2018. According to MRI findings, the lesions of PM and NF appeared as homogeneous masses with homogenous hypointensity or isointensity on T1-weighted images and as moderately or markedly hyperintense signals on T2-weighted images compared to skeletal muscle. In terms of histopathologic features, the differences between PM and NF mainly consisted of the presence of ganglion-like myofibroblasts with vesicular nuclei and basophilic cytoplasm in PM. The areas abundant in myxoid stroma with inflammatory infiltration that did not have abundant ganglion-like cells suggest NF. Immunohistochemically, the spindle-shaped cells of PM stained positive for smooth muscle actin (SMA), while the ganglion-like cells were negative. The spindle-shaped cells of NF showed diffuse expression of SMA, calponin, and vimentin. Our comprehensive study further demonstrated that PM and NF had a wide clinicopathologic and radiologic spectrum. Correlation with the clinical, radiologic and pathologic characteristics may help clinicians and pathologists make accurate diagnoses.
| S-EPMC6949867 | biostudies-literature
Project description:ContextIdiopathic infantile hypercalcemia (IIH), an uncommon disorder characterized by elevated serum concentrations of 1,25 dihydroxyvitamin D (1,25(OH)2D) and low parathyroid hormone (PTH) levels, may present with mild to severe hypercalcemia during the first months of life. Biallelic variants in the CYP24A1 or SLC34A1 genes are associated with severe IIH. Little is known about milder forms.ObjectiveThis work aims to characterize the genetic associations and biochemical profile of mild IIH.MethodsThis is a cross-sectional study including children between age 6 months and 17 years with IIH who were followed in the Calcium Clinic at the Hospital for Sick Children (SickKids), Toronto, Canada. Twenty children with mild IIH on calcium-restricted diets were evaluated. We performed a dietary assessment and analyzed biochemical measures including vitamin D metabolites and performed a stepwise molecular genetic analysis. Complementary biochemical assessments and renal ultrasounds were offered to first-degree family members of positive probands.ResultsThe median age was 16 months. Median serum levels of calcium (2.69 mmol/L), urinary calcium:creatinine ratio (0.72 mmol/mmol), and 1,25(OH)2D (209 pmol/L) were elevated, whereas intact PTH was low normal (22.5 ng/L). Mean 1,25(OH)2D/PTH and 1,25(OH)2D/25(OH)D ratios were increased by comparison to healthy controls. Eleven individuals (55%) had renal calcification. Genetic variants were common (65%), with the majority being heterozygous variants in SLC34A1 and SLC34A3, while a minority showed variants of CYP24A1 and other genes related to hypercalciuria.ConclusionThe milder form of IIH has a distinctive vitamin D metabolite profile and is primarily associated with heterozygous SLC34A1 and SLC34A3 variants.
| S-EPMC8475208 | biostudies-literature
Project description:This study reports a case of nodular fasciitis incidentally detected in a patient with papillary thyroid cancer. A 47-year-old woman underwent a total thyroidectomy and radioactive iodine therapy for papillary thyroid cancer. On a follow-up fluorodeoxyglucose (18F-FDG) PET/computed tomography (CT) scan after 12 months, a focal 18F-FDG-avid lesion was incidentally detected in the paraspinal muscle. It was well-enhanced on CT and magnetic resonance imaging, indicating metastasis. However, the lesion was not iodine avid on the 123I whole body scan, which favored benign etiology over metastasis from thyroid cancer. For pathological confirmation, surgical excision was performed and the paraspinal lesion was finally confirmed as nodular fasciitis. Therefore, it was suggested that nodular fasciitis may be included in the differential diagnosis of a 18F-FDG avid/iodine non-avid soft tissue lesion in patients with thyroid cancer. In such circumstances, 123I whole body scans may serve a role in non-invasive work-up, and prevent unnecessary surgical procedures.
| S-EPMC5494682 | biostudies-other
Project description:Nodular fasciitis (NF) is a benign and self-limiting fibroblastic proliferation that originates from the superficial fascia and extends into the subcutaneous tissue or muscle. It typically manifests in individuals aged 20 to 35 years, with rare occurrences observed in patients over the age of 60 years. We herein report a case involving a 75-year-old man with NF in the right vocal cord. The patient sought medical attention at the Department of Otolaryngology of our hospital because of a 1-month history of hoarseness and breathlessness. The diagnosis was unable to be confirmed through preoperative pathological examination. After admission to our hospital, various examinations were completed and surgical treatment was performed, and the postoperative histopathological findings revealed the presence of NF in the right vocal cord. NF of the vocal cord is a rare clinical entity. Given its rapid progression and propensity for marked infiltration, it often poses diagnostic challenges because it can mimic various malignant soft tissue tumors. Therefore, thorough exclusion of other neoplastic lesions is imperative prior to confirming the diagnosis of NF through pathological examination. Local surgical resection remains the primary treatment modality.
| S-EPMC11328270 | biostudies-literature
Project description:BackgroundRelapsing fever (RF) is an acute infectious disease caused by arthropod-borne spirochetes of the genus Borrelia. The disease is characterized by recurrent episodes of fever that concur with spirochetemia. The RF borrelioses include louse-borne RF caused by Borrelia recurrentis and tick-borne endemic RF transmitted by argasid soft ticks and caused by several Borrelia spp. such as B. crocidurae, B. coriaceae, B. duttoni, B. hermsii, B. hispanica and B. persica. Human infection with B. persica is transmitted by the soft tick Ornithodoros tholozani and has been reported from Iran, Israel, Egypt, India, and Central Asia.MethodsDuring 2003-2015, five cats and five dogs from northern, central and southern Israel were presented for veterinary care and detected with borrelia spirochetemia by blood smear microscopy. The causative infective agent in these animals was identified and characterized by PCR from blood and sequencing of parts of the flagellin (flab), 16S rRNA and glycerophosphodiester phosphodiestrase (GlpQ) genes.ResultsAll animals were infected with B. persica genetically identical to the causative agent of human RF. Phylogenetic analysis indicated that DNA sequences from these pet carnivores clustered together with B. persica genotypes I and II from humans and O. tholozani ticks and distinctly from other RF Borrelia spp. The main clinical findings in cats included lethargy, anorexia, anemia in 5/5 cats and thrombocytopenia in 4/5. All dogs were lethargic and anorectic, 4/5 were febrile and anemic and 3/5 were thrombocytopenic. Three dogs were co-infected with Babesia spp. The animals were all treated with antibiotics and the survival rate of both dogs and cats was 80 %. The cat and dog that succumbed to disease died one day after the initiation of antibiotic treatment, while survival in the others was followed by the rapid disappearance of spirochetemia.ConclusionsThis is the first report of disease due to B. persica infection in cats and the first case series in dogs. Infection was associated with anemia and thrombocytopenia. Fever was more frequently observed in dogs than cats. Domestic canines and felines suffer from clinical disease due to B. persica infection and may also serve as sentinels for human infection.
| S-EPMC4862127 | biostudies-literature