Primary desmoplastic small round cell tumor of the tibia: PET/CT and MRI presentation of a rare case and review of the literature.
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ABSTRACT:
SUBMITTER: Xuesong D
PROVIDER: S-EPMC6911945 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BackgroundDesmoplastic small round cell tumor (DSRCT) is a sporadic, highly malignant tumor with a poor prognosis. The abdomen and pelvis have been reported as the primary localization sites. However, to the best of our knowledge, there are few reports on primary DSRCT in the submandibular gland.Case presentationWe report a case of a 26-year-old Chinese man with a mass in the right submandibular gland. Imaging studies showed a hypoechoic mass in the right submandibular region. Intraoperative pathology revealed that the tumor tissue was composed of small round tumor cells and a dense desmoplastic stroma. On immunostaining, the tumor cells showed markers of epithelial, mesenchymal, myogenic, and neural differentiation. The EWSR1 gene rearrangement was detected by fluorescence in situ hybridization. Based on the overall morphological features and immunohistochemical findings, a final diagnosis of DSRCT was made. The patient was treated with comprehensive anti-tumor therapy mainly based on radiotherapy and chemotherapy.ConclusionsDSRCT is an uncommon malignant neoplasm with rare submandibular gland involvement. In this report, we have described a case of DSRCT in the submandibular gland and reviewed the literature on DSRCT over the past 5 years. Considering the importance of differential diagnosis between DSRCT, especially with rare extra-peritoneal involvement, and small round blue cell tumors, a full recognition of the clinicopathological features will help to better diagnose this neoplasm.
| S-EPMC8742402 | biostudies-literature
Project description:IntroductionPancreatic schwannoma (PS) is an extremely rare benign tumor. Here we describe the Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) results of PS in a 59 years old woman, as well as a review of the literature.Case presentationA 59-year-old woman consulted for atypical epigastralgia without fatigue, weight loss or fever. CT scan and MRI showed a 35 mm inhomogeneous lesion with well-defined margins located in the pancreas head. The diagnosis of pancreatic tumor was made. The pathologic examination of the biopsied mass yielded a diagnosis of pancreatic schwannoma.Clinical discussionOn CT scans, almost all benign PS are well-defined cystic or low-density masses. MRI is helpful in characterizing their typical encapsulation.ConclusionThe detection of pancreatic schwannoma is extremely rare. Although multiple imaging modalities are currently available, it is challenging to make an accurate diagnosis before operation.
| S-EPMC8355828 | biostudies-literature
Project description:Desmoplastic small round cell tumor (DSRCT) is a soft tissue sarcoma of mesenchymal cell origin that typically presents with multiple intra-abdominal tumors and exhibits a multi-phenotypic pattern of immunohistochemical staining. The specific organ or tissue type of origin has yet to be identified. DSRCT rarely arises as a singular tumor in the abdomen; in most cases, there are dozens to hundreds of abdominal peritoneal tumors that are detected on diagnosis. One very large dominant mass is usually present in the omentum, with an additional one or two large conglomerates of tumors in the pelvis and right peritoneum, respectively. Despite an often overwhelmingly large number of abdominal tumors, symptoms of bowel obstruction are rare. Ascites may be present. In late stages, pleural effusions, pleural implants, mediastinal adenopathy, supraclavicular adenopathy, or bone metastasis may be present. With this challenging disease, multidisciplinary therapy, including aggressive surgery, is warranted. This review will address DSRCT biology and treatment options and discuss outcomes.
| S-EPMC5614508 | biostudies-literature
Project description: Not available
| S-EPMC5368524 | biostudies-literature
Project description:Aortic valve disease is the most common form of heart valve disease in developed countries and a growing healthcare burden with an ageing population. Transthoracic and transoesophageal echocardiography remains central to the diagnosis and surveillance of patients with aortic stenosis, providing gold standard assessments of valve haemodynamics and myocardial performance. However, other multimodality imaging techniques are being explored for the assessment of aortic stenosis, including combined PET/CT and PET/MR. Both approaches provide unique information with respect to disease activity in the valve alongside more conventional anatomic assessments of the valve and myocardium in this condition. This review investigates the emerging use of PET/CT and PET/MR to assess patients with aortic stenosis, examining how the complementary data provided by each modality may be used for research applications and potentially in future clinical practice.
| S-EPMC7465843 | biostudies-literature
Project description:PurposeThe role of hybrid imaging using 18F-fluoro-2-deoxy-D-glucose positron-emission tomography (FDG-PET), computed tomography (CT) and magnetic resonance imaging (MRI) to improve preoperative evaluation of rectal cancer is largely unknown. To investigate this, the RECTOPET (REctal Cancer Trial on PET/MRI/CT) study has been launched with the aim to assess staging and restaging of primary rectal cancer. This report presents the study workflow and the initial experiences of the impact of PET/CT on staging and management of the first patients included in the RECTOPET study.MethodsThis prospective cohort study, initiated in September 2016, is actively recruiting patients from Region Västerbotten in Sweden. This pilot study includes patients recruited and followed up until December 2017. All patients had a biopsy-verified rectal adenocarcinoma and underwent a minimum of one preoperative FDG-PET/CT and FDG-PET/MRI examination. These patients were referred to the colorectal cancer multidisciplinary team meeting at Umeå University Hospital. All available data were evaluated when making management recommendations. The clinical course was noted and changes consequent to PET imaging were described; surgical specimens underwent dedicated MRI for anatomical matching between imaging and histopathology.ResultsTwenty-four patients have so far been included in the study. Four patients were deemed unresectable, while 19 patients underwent or were scheduled for surgery; one patient was enrolled in a watch-and-wait programme after restaging. Consequent to taking part in the study, two patients were upstaged to M1 disease: one patient was diagnosed with a solitary hepatic metastasis detected using PET/CT and underwent metastasectomy prior to rectal cancer surgery, while one patient with a small, but metabolically active, lung nodulus experienced no change of management. PET/MRI did not contribute to any recorded change in patient management.ConclusionsThe RECTOPET study investigating the role of PET/CT and PET/MRI for preoperative staging of primary rectal cancer patients will provide novel data that clarify the value of adding hybrid to conventional imaging, and the role of PET/CT versus PET/MRI.Trial registrationNCT03846882 .
| S-EPMC6651930 | biostudies-literature
Project description:Choriocarcinoma is an exceptionally aggressive trophoblastic cell tumor that that typically originates in gonadal tissues, with rare occurrences outside the gonads, including the mediastinum, retroperitoneum, and intracranial sites. However, it rarely occurs in the stomach. Herein, we presented a case of primary gastric choriocarcinoma in a 27-year-old female patient who found multiple liver masses detected during physical examination, accompanied by remarkably elevated human chorionic gonadotropin levels. The 18F-FDG PET/CT scan suggested ring-shaped intense uptake masses located in the gastric sinus and liver, and no significance in the pelvic region. Final histopathology indicated primary choriocarcinoma of the stomach. This case illustrates that 18F-FDG PET/CT is an essential imaging technique for the clinical diagnosis and stage of primary choriocarcinoma.
| S-EPMC10666916 | biostudies-literature
Project description:Desmoplastic small round cell tumor (DRSCT) is a highly aggressive primitive sarcoma that primarily affects adolescent and young adult males. The 5-year survival rate is 15-30% and few curative treatment options exist. Although there is no standard treatment for DSRCT, patients are most often treated with a combination of aggressive chemotherapy, radiation, and surgery. Targeted therapy inhibitors of PDGFA and IGF-1R, which are almost uniformly overexpressed in DSRCT, have largely failed in clinical trials. As in cancer in general, interest in immunotherapy to treat DSRCT has increased in recent years. To that end, several types of immunotherapy are now being tested clinically, including monoclonal antibodies, radionuclide-conjugated antibodies, chimeric antigen receptor T cells, checkpoint inhibitors, and bispecific antibodies (BsAbs). These types of therapies may be particularly useful in DSRCT, which is frequently characterized by widespread intraperitoneal implants, which are difficult to completely remove surgically and are the frequent cause of relapse. Successful treatment with immunotherapy or radioimmunotherapy following debulking surgery could eradiate these micrometasteses and prevent relapse. Although there has been limited success to date for immunotherapy in pediatric solid tumors, the significant improvements in survival seen in the treatment of other pediatric solid tumors, such as metastatic neuroblastoma and its CNS spread, suggest a potential of immunotherapy and specifically compartmental immunotherapy in DSRCT.
| S-EPMC8641660 | biostudies-literature
Project description:Desmoplastic small round cell tumor (DSRCT) is characterized by the EWSR1-WT1 t(11;22) (p13:q12) translocation. Few additional putative drivers have been identified, and research has suffered from a lack of model systems. Next-generation sequencing (NGS) data from 68 matched tumor-normal samples, whole-genome sequencing data from 10 samples, transcriptomic and affymetrix array data, and a bank of DSRCT patient-derived xenograft (PDX) are presented. EWSR1-WT1 fusions were noted to be simple, balanced events. Recurrent mutations were uncommon, but were noted in TERT (3%), ARID1A (6%), HRAS (5%), and TP53 (3%), and recurrent loss of heterozygosity (LOH) at 11p, 11q, and 16q was identified in 18%, 22%, and 34% of samples, respectively. Comparison of tumor-normal matched versus unmatched analysis suggests overcalling of somatic mutations in prior publications of DSRCT NGS data. Alterations in fibroblast growth factor receptor 4 (FGFR4) were identified in 5 of 68 (7%) of tumor samples, whereas differential overexpression of FGFR4 was confirmed orthogonally using 2 platforms. PDX models harbored the pathognomic EWSR1-WT1 fusion and were highly representative of corresponding tumors. Our analyses confirm DSRCT as a genomically quiet cancer defined by the balanced translocation, t(11;22)(p13:q12), characterized by a paucity of secondary mutations but a significant number of copy number alterations. Against this genomically quiet background, recurrent activating alterations of FGFR4 stood out, and suggest that this receptor tyrosine kinase, also noted to be highly expressed in DSRCT, should be further investigated. Future studies of DSRCT biology and preclinical therapeutic strategies should benefit from the PDX models characterized in this study. IMPLICATIONS: These data describe the general quiescence of the desmoplastic small round cell tumor (DSRCT) genome, present the first available bank of DSRCT model systems, and nominate FGFR4 as a key receptor tyrosine kinase in DSRCT, based on high expression, recurrent amplification, and recurrent activating mutations.
| S-EPMC8293793 | biostudies-literature
Project description:OBJECTIVE: To compare the effect of implanted medical materials on (18)F-fludeoxyglucose ((18)F-FDG) positron emission tomography (PET)/MRI using a Dixon-based segmentation method for MRI-based attenuation correction (MRAC), PET/CT and CT-based attenuation-corrected PET (PETCTAC). METHODS: 12 patients (8 males and 4 females; age 58±11 years) with implanted medical materials prospectively underwent whole-body (18)F-FDG PET/CT and PET/MRI. CT, MRI and MRAC maps as well as PETCTAC and PETMRAC images were reviewed for the presence of artefacts. Their morphology and effect on the estimation of the (18)F-FDG uptake (no effect, underestimation, overestimation compared with non-corrected images) were compared. In PETMRAC images, a volume of interest was drawn in the area of the artefact and in a reference site (contralateral body part); the mean and maximum standardised uptake values (SUVmean; SUVmax) were measured. RESULTS: Of 27 implanted materials (20 dental fillings, 3 injection ports, 3 hip prostheses and 1 sternal cerclage), 27 (100%) caused artefacts in CT, 19 (70%) in T1 weighted MRI and 17 (63%) in MRAC maps. 20 (74%) caused a visual overestimation of the (18)F-FDG uptake in PETCTAC, 2 (7%) caused an underestimation and 5 (19%) had no effect. In PETMRAC, 19 (70%) caused spherical extinctions and 8 (30%) had no effect. Mean values for SUVmean and SUVmax were significantly decreased in artefact-harbouring sites (p<0.001). CONCLUSION: Contrary to PET attenuation correction artefacts in PET/CT, which often show an overestimation of the (18)F-FDG uptake, MRAC artefacts owing to implanted medical materials in most cases cause an underestimation. ADVANCES IN KNOWLEDGE: Being aware of the morphology of artefacts owing to implanted medical materials avoids interpretation errors when reading PET/MRI.
| S-EPMC3635797 | biostudies-other