ABSTRACT
Objective@#To study the relationship between rs1136410 polymorphism in poly (ADP-ribose) polymerase-1 gene (PARP-1) with obesity and non-alcoholic fatty liver disease (NAFLD) in children and adolescents, and to provide a reference for demonstrating the mechanism of obesity and NAFLD of children and adolescents and making the early prevention strategies.@*Methods@#In total, 2 030 children and adolescents aged 7-18 years old were recruited. Anthropometric measurements were performed. Liver B-ultrasound detection were performed in a subgroup. The matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TDF MS) was used for genotyping the rs1136410 polymorphism. Logistic regression was used to analyze the relationship between rs1136410 polymorphism and obesity or NAFLD in children and adolescents.@*Results@#Totally, 1 325 subjects were in non-obese group and 705 subjects were in obese group. The frequency of G allele and A allele were 43.86% and 56.14%. After adjusting for gender, age, and study population, the risk of obesity increased by 1.17 times for each additional A allele of rs1136410 polymorphism(OR=1.17, 95%CI=1.02-1.33, P=0.03). And the risk of NAFLD increased by 1.43 times for each additional A allele of rs1136410 polymorphism(OR=1.43, 95%CI=1.11-1.85, P=0.01). After further adjustment for BMI, rs1136410 polymorphism was not associated with NAFLD(P=0.70).@*Conclusion@#The rs1136410 polymorphism in PARP-1 gene is associated with obesity and NAFLD in children and adolescents. The effect of the gene polymorphism on NAFLD is mediated by BMI.
ABSTRACT
Objective@#To investigate the clinicopathologic and genetic features, pathologic diagnosis and differential diagnosis of angiofibroma of soft tissue(AFST).@*Methods@#The clinicopathologic characteristics of 24 cases diagnosed at Fudan University Shanghai Cancer Center from 2011 to 2017 were analyzed; immunohistochemical staining and interphase fluorescence in situ hybridization (FISH) were performed, and the literatures were also reviewed.@*Results@#There were 15 male and 9 female (male∶female=1.7∶1.0) patients with age of onset ranging from 8 to 68 years (mean, 45 years). Fourteen cases occurred in extremities, including upper limbs (n=3) and lower limbs (n=11); seven cases were in the trunk, and 1 case each was in the temporal region, retroperitoneum and liver, respectively. Clinically, the tumors usually presented as a slowly growing painless mass. Tumor sizes ranged from 0.8 to 14 cm (mean 4.6 cm). Microscopically, most lesions were well-circumscribed, with fibrous capsules. Few cases infiltrated the surrounding fibrofatty tissue focally. The tumors were mainly composed of sparse short spindle cells and numerous small, branching, thin-walled blood vessels distributed in amyxoid, fibromyxoid or collagenous matrix, often accompanied by medium-sized, round or irregular and ecstatic vessels at the tumor periphery.By immunohistochemistry, all tested cases expressed vimentin (5/5), and showed variable positivity for EMA (2/4), ER (1/2), PR (2/3), α-SMA (1/18)and desmin (1/10). Ki-67 proliferation index were all less than 5%. CD34, CD31 and ERG staining clearly outlined the contours of blood vessels in the stroma. Four cases were tested for NCOA2 gene rearrangement by FISH, of which three were positive. Follow-up data was available in 17 patients (range, 3 to 69 months; mean, 30 months) were all free of disease.@*Conclusions@#Soft tissue angiofibroma is a benign fibroblastic neoplasm characterized by a prominent and complex vasculature set in a myxoid-to-collagenous stroma, and cytogenetically a distinctive NCOA2 gene rearrangement. Caution should be exercised for the possibility of potentially misinterpretation of AFST as vascular tumors and other myxoid soft tissue tumors.
ABSTRACT
Objective To investigate the safety and effectiveness of endoscopic resection of tumors originated from gastric fundus muscularis propria.Methods Data of 53 patients with tumors originated from gastric fundus muscularis propria detected by endoscopic ultrasonograpy,treated by endoscopic resection and followed up at our hospital between January 2012 and June 2014 were reviewed.The postoperative pathology and complications were retrospectively analyzed to evaluate the therapeutic effect and safety.Results The procedure was successfully performed on all patients and all lesions were removed in one procedure.The lesion size ranged from 0.5 to 4.5 cm and the operation time was 25-155 min[mean(46.7 ±18.2)min].Mild bleeding (5 ~150 ml)occurred in all cases,which was successfully managed by argon plasma coagulation,hot biopsy probe or endoclip.Perforation occurred in 8 patients(8 /53),seven of whom were closed with titanium clips and titanium clips combined with nylon cord.Laparoscopic intervention was applied to 1 case because of severe perforation.Gastrointestinal decompression,acid suppression with proton pump inhibitors and antibiotics were performed on all cases.No severe hemorrhage occurred.The average length of hospitalization was (5.3 ± 1.4)days(3-14 d).Pathology confirmed 46 cases of gastrointestinal stromal tumors and 7 cases of leiomyoma. The patients were followed up for 3 to 27 months,and no tumor residue or recurrence was observed. Conclusion Endoscopic resection is a method not only to get the accurate pathologic diagnosis but also to meet principle of the local resection for stomach.It is safe,effective and worthy of recommendation.
ABSTRACT
Purpose To analyze the clinicopathological characteristics of giant cell angioblastoma ( GCAB) presenting primarily in the bone. The differential diagnosis is discussed. Methods The clinical, radiological and histopathological profiles in three cases of bony GCAB were reviewed. Results The tumor occurred in two adult females and one boy. The lesion involved the second vertebrae, left distal femur and 3rd to 5th left metacarpal bones in one case each. Clinically, all three patients presented with bone pain. Two patients were accompanied with restricted mobility. Radiological examination showed bone destruction with involvement of adjacent soft tissue in two cases. Histologically, the tumor was composed of irregular angiomatoid nodules which showed striking plexiform architecture. On high power, the nodules were composed of small vessels surrounded by proliferative oval-to-spindled pericytes which showed concentric aggregation around the vascular channels. The hallmark of the lesion was the presence of multinucleated osteoclast-like giant cells scat-tered within the nodules. By immunohistochemistry, the endothelial cells were positive for CD31 and CD34, whereas the surrounding pericytes were positive for alpha smooth muscle actin and vimentin. CD68 staining highlighted the osteoclast-like giant cells. Conclu-sions GCAB is a distinctive vascular tumor of intermediate malignancy characterize by local aggressiveness. On rare occasions, GCAB may occur in adult patients and manifest as primary bone lesions. Awareness of its characteristic features will help in the distinction from a variety of disease including granulomatous lesions, plexiform fibrous histiocytoma, tufted hemangioma and Kaposiform heman-gioendothelioma.
ABSTRACT
<p><b>OBJECTIVE</b>To study the clinicopathologic characteristics, immunophenotypes and differential diagnosis of primitive myxoid mesenchymal tumor of infancy (PMMTI).</p><p><b>METHODS</b>The clinical data, histological features and immunohistochemic results of 3 cases of PMMTI were reviewed.</p><p><b>RESULTS</b>There were 2 males and 1 female aged 4 years, 2 days and 3 months respectively. The tumor occurred in the head and neck (n = 2), and lumbar regions (n = 1).Histologically, they were composed of ovoid, short spindled to polygonal mesenchymal cells with less eosinophilic cytoplasm, or vacuolated cytoplasm. There was mild nuclear atypia with mitotic activity of 0-2/10 HPF.In most areas, the neoplastic cells showed a diffuse growth pattern, whereas in some areas, they formed a vaguely nodular pattern with peripheral collagenized stroma. They were embedded in a myxoid stroma that contained a rich delicate vascular network. Besides, small cyst-like spaces were also present in one case. The tumor cells expressed vimentin, but not alpha smooth muscle actin, desmin, myogenin, S-100 protein, CD34 and cytokeratin. The patients underwent surgery.One patient had local recurrences twice and died 2 years later. Compared with the primary tumor, the recurrent lesions exhibited increased cellularity, marked cellular atypia and mitotic activity (10/10 HPF). The other two patients remained well with no evidence of disease at last during follow-up.</p><p><b>CONCLUSIONS</b>PMMTI is a rare soft tissue tumor of infancy, composed of primitive mesenchymal cells and myxoid stroma.It occurs mainly in the somatic soft tissues of the trunk, head and neck region, and the extremities, and is characterized by a high rate of local recurrence if incompletely excised. Metastasis and tumor related death may occur, albeit very rarely.Increased awareness of this novel entity will help avoid misinterpreting the lesion as a variety of other infantile mesenchymal neoplasms, including congenital fibrosarcoma and lipoblastoma.</p>