Clinicopathological and genetic findings of infantile nodular fasciitis.
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ABSTRACT:
SUBMITTER: Qiu Y
PROVIDER: S-EPMC8631378 | biostudies-literature |
REPOSITORIES: biostudies-literature
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.
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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.
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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.
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Project description:Nodular fasciitis (NF) is a benign lesion that has proliferative fibroblasts and myofibroblasts. NF is similar to a tumour and has infiltrative properties. We describe a rare case of multiple nodular fasciitis occurring in the mandibular border area of a 51-year-old male. Radiological and histological features are discussed along with a brief review of the literature. In addition, the importance of a differential diagnosis for this lesion is also discussed.
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Project description:Relapsing 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.During 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.All 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.This 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
Project description:Nodular lymphoid hyperplasia (NLH) in the small intestine is a rare benign lesion, characterized by the presence of multiple small nodules on the surface of the intestine. To define the clinicopathological and colonoscopic characteristics in Chinese patients with ileal NLH, we collected 65 patients with NLH in the terminal ileum from the endoscopic database in our hospital and clinical data from medical records. Histology and immunohistochemical staining were performed in the biopsies. The results demonstrated that the main symptoms included diarrhea (70.8%), abdominal pain (60.0%), hematochezia (46.2%), anemia (40.0%), and hypoproteinemia (21.5%). Enteroscopy revealed multiple, sporadic, granular or round-shaped nodules with diameters between 2 and 5 mm in the terminal ileum. The histology revealed the nodules consisted of mass lymphoid follicles in the lamina propria and submucosa of the terminal ileum. The follicles contained mitotically active germinal centers surrounded by well-defined lymphocyte mantles and composed predominantly of CD20+ B cells. The diseases found in patients with NLH included chronic diarrhea, Crohn's disease, ischemic enterocolitis and allergic purpura. The level of hemoglobin in NLH patients who had diarrhea and hematochezia remarkably decreased as compared with those in patients with chronic diarrhea. In conclusion, ileocolonoscopic screening is an important step to find the NLH in terminal ileum patients with diarrhea, abdominal pain, hematochezia, and hypoproteinemia. Histological examination is necessary for the exclusion of malignancy and chronic inflammation.
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Project description:The use of clinical genetics evaluations and testing for infants with congenital heart defects (CHDs) is subject to practice variation. This single-institution cross-sectional study of all inpatient infants with severe CHDs evaluated 440 patients using a cardiovascular genetics service (2014-2019). In total, 376 (85.5%) had chromosome microarray (CMA), of which 55 (14.6%) were diagnostic in syndromic (N = 35) or isolated (N = 20) presentations. Genetic diagnoses were made in all CHD classes. Diagnostic yield was higher in syndromic appearing infants, but geneticists' dysmorphology exams lacked complete sensitivity and 6.5% of isolated CHD cases had diagnostic CMA. Interestingly, diagnostic results (15.8%) in left ventricular outflow tract obstruction (LVOTO) defects occurred most often in patients with isolated CHD. Geneticists' evaluations were particularly important for second-tier molecular testing (10.5% test-specific yield), bringing the overall genetic testing yield to 17%. We assess these results in the context of previous studies. Cumulative evidence provides a rationale for comprehensive, standardized genetic evaluation in infants with severe CHDs regardless of lesion or extracardiac anomalies because genetic diagnoses that impact care are easily missed. These findings support routine CMA testing in infants with severe CHDs and underscore the importance of copy-number analysis with newer testing strategies such as exome and genome sequencing.
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