Non-malignant fibrosing tumors in the pediatric hand: a clinicopathologic case review.
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ABSTRACT:
SUBMITTER: Netscher DT
PROVIDER: S-EPMC2654948 | biostudies-other | 2009 Mar
REPOSITORIES: biostudies-other
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Project description:Background:Pediatric hand fractures are common, but few require surgery; therefore, these fractures are often perceived to be overreferred. Our objective is to systematically identify and describe pediatric hand fracture referring practices. Method:A scoping review was performed, searching electronic databases and grey literature up to January 2018 to identify referring practices for children (17 years and younger) with hand fractures (defined as radiographically confirmed fractures distal to the carpus) to hand surgeons. All study designs were included, and study selection and data extraction were independently performed in duplicate by 2 reviewers. Outcomes included referring rates, necessity of referral, referring criteria, and management of fractures. Results:Twenty (10 cross-sectional, 7 prospective cohorts, and 3 narrative reviews) studies reporting on referring practices or management of 21,624 pediatric hand fractures were included. Proportion of pediatric hand fractures referred to hand surgeons ranged from 6.5% to 100%. Unnecessary referral, defined as those fractures within the scope of primary care management, ranged from 27% to 78.1%. Ten studies reported referring criteria, with 14 unique criteria identified. The most common referring criteria were displacement (36.4%), loss of joint congruity (36.4%), and instability (36.4%). The most common justification for these criteria was increased likelihood of requiring surgery. The most common initial management was immobilization (66%-100%). Final management was provided by orthopedic or plastic hand surgeons with 0% to 32.9% of fractures requiring surgery. Conclusion:Referring practices vary widely in the literature. Major gaps in the literature include objective measures and justification for referring criteria and primary care education on hand fracture referring practices.
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Project description:Primary malignant melanoma of esophagus is very rare, and its clinicopathologic and genetic features have not been extensively investigated. In this study, 20 tumors from 14 male and 6 female patients (40-79 years old) were evaluated. Dysphagia, chest pain, and weight loss were frequent symptoms. Thirteen melanomas, including two with multiple lesions, involved the distal third of esophagus. The median tumor diameter was 6 cm. Epithelioid morphology, moderate atypia, and pigmentation were typical findings. None of the patients had melanoma elsewhere, and all tumors exhibited a junctional peri-epithelial component consistent with a primary lesion. The median mitotic activity was 11 per 10 high-power fields (range, 0-31). Nine patients died of tumor within 4-22 months, however, two showed long-term (96 and 104 months) survival. In 15 cases, tissue for further immunohistochemical and molecular studies were available. BRAF, KIT, and NRAS mutation status was assessed by Sanger sequencing in all 15 tumors. The next-generation sequencing of 50 or 409 genes was performed in five and three cases, respectively. IGF1R expression indicating activation of the IGF axis was seen in 82% (9/11) of tumors. However, no BRAF mutations were identified. In 33% (5/15) of tumors, NRAS mutations were detected. KIT expression was seen in 50% (7/14) of melanomas including single KIT mutant. Two of three tumors evaluated with 409 genes panel revealed multiple driver mutations indicating sub-clonal expansion, whereas a single mutation (TSC1 p.H371Q) was the sole change in the third case. SF3B1 p.K666T and p.R625C mutations were detected in two cases. However, no co-occurrence of SF3B1 and GNAQ or GNA11 mutations, seen in uveal melanoma, was detected. FBXW7 p.R465C and p.R479G mutations, linked to cancer progression, were found in two of eight tumors. In summary, esophageal melanoma mutation profile indicates complexity of molecular mechanisms underlying its pathogenesis.
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Project description:BACKGROUND:Malignant peripheral nerve sheath tumors (MPNSTs) are rare yet highly aggressive soft tissue sarcomas. Children with neurofibromatosis type 1 (NF1) have a 10% lifetime risk for development of MPNST. Prognosis remains poor and survival seems worse for NF1 patients. METHODS:This narrative review highlights current practices and pitfalls in the management of MPNST in pediatric NF1 patients. RESULTS:Preoperative diagnostics can be challenging, but PET scans have shown to be useful tools. More recently, functional MRI holds promise as well. Surgery remains the mainstay treatment for these patients, but careful planning is needed to minimize postoperative morbidity. Functional reconstructions can play a role in improving functional status. Radiotherapy can be administered to enhance local control in selected cases, but care should be taken to minimize radiation effects as well as reduce the risk of secondary malignancies. The exact role of chemotherapy has yet to be determined. Reports on the efficacy of chemotherapy vary as some report lower effects in NF1 populations. Promisingly, survival seems to ameliorate in the last few decades and response rates of chemotherapy may increase in NF1 populations when administering it as part of standard of care. However, in metastasized disease, response rates remain poor. New systemic therapies are therefore desperately warranted and multiple trials are currently investigating the role of drugs. Targeted drugs are nevertheless not yet included in first line treatment. CONCLUSION:Both research and clinical efforts benefit from multidisciplinary approaches with international collaborations in this rare malignancy.
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Project description:UnlabelledDespite the tremendous advances in the treatment of childhood kidney tumors, there remain subsets of pediatric renal tumors that continue to pose a therapeutic challenge, mainly malignant rhabdoid kidney tumors and nonosseous renal Ewing sarcoma. Children with advanced, metastatic, or relapsed disease have a poor disease-free survival rate. Focal adhesion kinase (FAK) is a nonreceptor tyrosine kinase that is important in many facets of tumor development and progression. FAK has been found in other pediatric solid tumors and in adult renal cellular carcinoma, leading to the hypothesis that FAK contributes to pediatric kidney tumors and would affect cellular survival. In the current study, FAK was present and phosphorylated in pediatric kidney tumor specimens. Moreover, the effects of FAK inhibition upon G401 and SK-NEP-1 cell lines were examined using a number of parallel approaches to block FAK, including RNA interference and small-molecule FAK inhibitors. FAK inhibition resulted in decreased cellular survival, invasion and migration, and increased apoptosis. Furthermore, small-molecule inhibition of FAK led to decreased SK-NEP-1 xenograft growth in vivo. These data deepen the knowledge of the tumorigenic process in pediatric renal tumors, and provide desperately needed therapeutic strategies and targets for these rare, but difficult to treat, malignancies.ImplicationsThis study provides a fundamental understanding of tumorigenesis in difficult to treat renal tumors and provides an impetus for new avenues of research and potential for novel, targeted therapies.
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Project description:This study will review the treatment and outcomes of patients having primary and metastatic hepatic malignancies. Patients treated with surgical resection, percutaneous radiofrequency ablation (RFA), and transarterial chemoembolization (TACE) will be compared with patients not receiving these treatments. Tumor recurrence and survival data will be compared to the published literature to determine the efficacy of current treatment strategies in this patient population.
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Project description:To compare the transcriptome profiles of the two principal histological variants of malignant germ cell tumor that occur in childhood Keywords: Disease state analysis
2008-05-31 | GSE10615 | GEO
Project description:BackgroundOral neural tumors (ONTs) are rare lesions and represent reactive or neoplastic proliferations of nerve sheath cells. The purpose of the present study is to report the clinical, demographic and histopathologic features of 157 ONTs diagnosed in a single Oral Pathology Department and review the pertinent literature.Material and methods157 cases of ONTs diagnosed during a 44-year period were retrospectively collected and the diagnosis was reconfirmed by studying representative haematoxylin and eosin stained tissue sections. The patients' gender and age, as well as the main clinical features of the lesions, were retrieved from the biopsy submission forms.ResultsThe 157 ONTs represented approximately 0.4% of 35,590 biopsies accessioned during the study period. They affected 71 male and 86 female patients with a mean age of 38.4±18.8 years. They mainly appeared as asymptomatic nodules of normal or white colour on the tongue, lip mucosa and hard palate. The most common ONT was granular cell tumour (38.9%) followed by neurofibroma (19.7%), schwannoma (15.9%), traumatic neuroma (15.9%), palisaded encapsulated neuroma (8.3%) and nerve sheath myxoma (1.3%).ConclusionsThis study confirmed the rarity of ONTs. Their clinical characteristics mimic other oral lesions; thus, microscopic examination is the only mean to arrive at a definitive diagnosis. Key words:Oral neural tumors; oral neural neoplasms; neurofibroma; oral neurofibroma; schwannoma; oral schwannoma; neurilemmoma; oral neurilemmoma; granular cell tumor; oral granular cell tumor; traumatic neuroma; oral traumatic neuroma; palisaded encapsulated neuroma; oral palisaded encapsulated neuroma.
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Project description:To compare the transcriptome profiles of the two principal histological variants of malignant germ cell tumor that occur in childhood Experiment Overall Design: Here, we analyzed the global gene expression profiles of 27 pediatric MGCTs from the two principal histologies (18 yolk sac tumors [YSTs] and 9 seminomas).
2008-06-18 | E-GEOD-10615 | biostudies-arrayexpress
Project description:BackgroundSchwannomas are benign tumors originating from Schwann cells, frequently occurring in the spinal cord and peripheral nerves. Intraosseous schwannomas, a rare subset, account for approximately 0.2% of schwannomas. Intraosseous schwannomas commonly impinge the mandible, followed by the sacrum and the spine. By far, only three cases of radius intraosseous schwannomas have been reported in PubMed. The tumor was treated differently in all three cases, resulting in different outcomes.Case presentationA 29-year-old male construction engineer who complained of a painless mass on the radial aspect of the right forearm was diagnosed with an intraosseous schwannoma of the radius based on radiography, three-dimensional computed tomography reconstruction, magnetic resonance imaging, pathological examination, and immunohistochemistry. A different surgical approach was employed to reconstruct the radial graft defect using bone microrepair techniques, resulting in more reliable bone healing and early functional recovery. Meanwhile, no clinical and radiographic findings suggestive of recurrence were observed at the 12-month follow-up.ConclusionVascularized bone flap transplantation combined with three-dimensional imaging reconstruction planning might yield better results for repairing small segmental bone defects of the radius caused by intraosseous schwannomas.
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Project description:Cancer survivors experience numerous treatment side effects that negatively affect their quality of life. Cognitive side effects are especially insidious, as they affect memory, cognition, and learning. Neurocognitive deficits occur prior to cancer treatment, arising even before cancer diagnosis, and we refer to them as "tumor brain." Metabolomics is a new area of research that focuses on metabolome profiles and provides important mechanistic insights into various human diseases, including cancer, neurodegenerative diseases, and aging. Many neurological diseases and conditions affect metabolic processes in the brain. However, the tumor brain metabolome has never been analyzed. In our study we used direct flow injection/mass spectrometry (DI-MS) analysis to establish the effects of the growth of lung cancer, pancreatic cancer, and sarcoma on the brain metabolome of TumorGraft™ mice. We found that the growth of malignant non-CNS tumors impacted metabolic processes in the brain, affecting protein biosynthesis, and amino acid and sphingolipid metabolism. The observed metabolic changes were similar to those reported for neurodegenerative diseases and brain aging, and may have potential mechanistic value for future analysis of the tumor brain phenomenon.
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