Genetic and epigenetic alterations of the PTEN gene in soft tissue sarcomas

The PTEN/MMAC1 ( PTEN ) gene was identified as a tumor suppressor gene encoding a cytoplasmic protein that controls cellular processes. To investigate the potential role and the alteration of the PTEN gene in soft tissue sarcomas (STSs), we searched for homozygous deletion and promoter hypermethylation in a series of 48 STSs that was composed of malignant fibrous histiocytoma, leiomyosarcoma, malignant peripheral nerve sheath tumor, including 2 cases with a mutation that we previously reported; differential polymerase chain reaction and methylation-specific polymerase chain reaction, respectively, were used for the analyses. Furthermore, to determine whether PTEN gene alterations are involved in the down-regulation of PTEN expression, we examined the expression of PTEN protein in 38 cases in which paraffin-embedded tissues were available for immunohistochemical analysis. In addition to our previous results showing that 2 (4%) of 51 cases had a PTEN mutation, promoter methylation was recognized in 6 (13%) of 48 cases, and homozygous deletion was detected in 1 (2%) of 48 cases in the current study. Of 6 cases with promoter methylation of PTEN gene, 5 were malignant peripheral nerve sheath tumor. Decreased expression of PTEN protein was recognized in 11 (29%) of 38 STS cases. Of 9 cases with PTEN alterations (6 cases with promoter methylation, 2 with mutation, and 1 with homozygous deletion), 3 (33%) showed decreased expression of PTEN protein. Furthermore, decreased expression of the PTEN gene showed a statistically significant correlation with high MIB-1 labeling index in 38 STS cases examined ( P = .0441). In conclusion, promoter methylation and homozygous deletion of the PTEN gene were found to be relatively rare events in cases of STS, as is mutation of the gene. Of 9 cases with a PTEN alteration, 3 (33%) showed a decrease in PTEN expression, indicating that PTEN gene alterations seem to play a minor role in the inactivation of PTEN in these tumors. Furthermore, although a further detailed analysis of a larger number of cases is still necessary, the present results suggest that PTEN expression may be a useful indicator of cell proliferation in patients with STS.     

Monosomy 9q and trisomy 16q in a case of congenital solitary infantile myofibromatosis

Although infantile myofibromatosis (IM) is the most common fibrous proliferation of infancy, many aspects of this benign lesion have not been explored. IM histogenesis is still poorly understood, despite immunohistochemical staining and ultrastructural features that suggest a myofibroblastic origin. IM diagnosis is often made difficult by the predominance of small primitive spindle cells over myofibrobasts and the presence of intravascular growth. Genetic information is scarce, with only one karyotyped case. Here we describe a case of solitary IM discovered at birth in an otherwise healthy girl. The tumor was well circumscribed, arranged in nodules and made up of ovoid cells without atypia, in a myxoid background. Immunohistochemical evaluation indicated a myofibroblastic differentiation. The cytogenetic and fluorescence in situ hybridization analyses revealed an abnormal chromosome 9, derived from an unbalanced whole-arm translocation between chromosomes 9 and 16. On both chromosomes, the breakpoints were located in the pericentric heterochromatic region. This clonal abnormality has not been reported in other tumors and is different from the chromosome 6q deletion reported in the single previous reported IM karyotype.     

Soft Drink Consumption and Mental Health in Adolescents: A Longitudinal Examination

PurposePrevious studies showed associations between soft drink consumption and mental health problems in adolescents, but the direction of these effects is unknown. This study examines the hypotheses that soft drink consumption predicts aggression and depressive symptoms over time and that these mental health problems predict soft drink consumption.MethodsInterviews were conducted with 5,147 children and their caregivers from three sites at child ages 11, 13, and 16. At each time point, youth reported on their frequency of consuming soft drinks, aggressive behavior, and depressive symptoms. An autoregressive cross-lagged path model tested reciprocal relationships between soft drink consumption, aggressive behavior, and depressive symptoms over time.ResultsMore frequent consumption of soft drinks was associated with more aggressive behavior at each time point and depressive symptoms at ages 11 and 13 (r = .04 to .18, p ≤ .002). After adjusting for covariates and stability of each behavior over time, soft drink consumption at ages 11 and 13 predicted more aggressive behavior at the next time point (β = .08 and .06, p < .001). Aggressive behavior at age 13 also predicted more soft drink consumption at age 16 (β = .06, p = .002). Soft drink consumption at age 13 predicted fewer depressive symptoms (β = ?.04, p = .007), but depressive symptoms did not predict soft drink consumption.ConclusionsMore frequent consumption of soft drinks may contribute to aggressive behavior in adolescents over time; there is some support for reciprocal relationships. There is no evidence for soft drink consumption contributing to adolescents' depression. Future research should examine longitudinal effects over shorter intervals.     

软组织肉瘤免疫组织化学研究的意义

本文旨在研究免疫组织化学在软组织肉瘤诊断、鉴别诊断的意义。判断肿瘤增生程度及预防 ,进展及治疗前景。     

Soft tissue aneurysmal bone cyst of left hemithorax with review of literature

Soft tissue aneurysmal bone cysts (STABCs) are extremely rare extraosseous counterpart of aneurysmal bone cyst (ABC), with close resemblance to histo-morphologic characteristics of ABC. Here we would like to report a 13-year-old female patient, who presented with a large mass, occupying the entire left hemithorax. Patient underwent resection of the thoracic mass. On histopathological examination, it was found to be a soft tissue ABC. It is a very rare tumor and until date 28 cases have been reported in English literature, to the best of our knowledge. On review of the literature, we found this to be the first case of STABC reported in thoracic cavity. The objective of this case presentation is to provide information regarding clinical presentation, radiological and pathological features, and course of management for this rare disease. Soft tissue ABCs are a new class of tumors, so more extensive research is required to establish standard guidelines for their diagnosis and management, to yield better prognosis.     

Extra nodal Rosai Dorfman disease masquerading as metastatic soft tissue sarcoma- A case report

Rosai Dorfman disease is rare benign disease of phagocytic histiocytosis usually present as painless massive lymphadenopathy. Extra nodal presentation of Rosai Dorfman disease is rare but also described. We hereby describe an unusual presentation of the extra nodal Rosai Dorfman disease with rapidly growing soft tissue lesion in the left thigh with associated osseous lesions in the right distal femur, left distal femur, left proximal tibia and presence of solitary pulmonary nodule. This case is unique as clinical presentation highly suspicious of soft tissue sarcoma but excision biopsy of thigh lesion showed Rosai Dorfman disease.Though RDD in extremities has been described in limited number of cases, to the best of our knowledge this is first case of lower extremity RDD associated with osseous lesions and pulmonary nodule but without lymphadenopathy.     

灵宝护心丹联合参松养心胶囊治疗窦性心动过缓的临床观察

目的 探讨灵宝护心丹联合参松养心胶囊治疗窦性心动过缓的临床疗效。方法 选取2019年3月—2020年12月抚州市中医医院内科诊断为窦性心动过缓患者100例,随机分为对照组（50例）和治疗组（50例）。对照组给予参松养心胶囊（每天3次,每次4粒）,治疗组在对照组的基础上给予灵宝护心丹（每天3次,每次4粒）,治疗24周。治疗后比较两组的临床疗效、24 h动态心电图指标、心率变异性时域指标及不良反应。结果 治疗组中医证候有效率84.0%,对照组为60.0%,两组比较差异有统计学意义（P<0.05）。治疗组动态心电图总有效率86.0%,对照组64.0%,两组比较差异有统计学意义（P<0.05）。治疗后,两组平均心率、总心率、最快心率、最慢心率、24 h全部正常心室搏动间距（R wave-R wave,R-R）间期标准差（standard diviation of NN intervals,SDNN）、24 h连续5 min节段正常R-R间期的标准差（standard deviation of sequential five-minute R-R interval means,SDA...     

Reconstruction of Soft Tissue Defects in the Hand with a Free Anterolateral Thigh Deep Fascia Flap

ObjectiveTo report our experience in the reconstruction of soft tissue defects in the hand with a free anterolateral thigh deep fascia flap and describe the clinical outcomes.MethodsThis study was a retrospective trial. From November 2016 to January 2020, six patients (four men and two women) with soft tissue defects in the hand were included in this study. The average age of the patients was 33.7 ± 12.7 years (range, 20 to 50 years). All patients underwent reconstructions with free anterolateral thigh deep fascia flaps. Relevant clinical characteristics were recorded prior to surgery. The size and thickness of the deep fascia flap and the thickness of the skin were measured intraoperatively. The survival of the flaps and skin grafts and the occurrence of infection were recorded after the operation. At follow‐up, donor site complications and postoperative effects were evaluated according to the outcome satisfaction scale. The pain in the injured hand was assessed using the visual analog scale.ResultsThe average body mass index (BMI) was 26.6 ± 1.7 kg/m² (range, 23.9 to 28.7 kg/m²). The defect sizes ranged from 5 cm × 5 cm to 13 cm × 8 cm (average, 53.1 ± 27.9 cm²). The six anterolateral thigh deep fascia flaps ranged from 7 cm × 6 cm to 14 cm × 9 cm in size (average, 71.8 ± 29.1 cm²). The thicknesses of skin ranged from 25 mm to 40 mm (average, 32.5 ± 4.8 mm), and the thicknesses of the deep fascia flaps ranged from 2 mm to 3 mm (average, 2.5 ± 0.5 mm). After the operation, the blood supply of the deep fascia flap was normal in all cases. The second‐stage skin grafts of most patients survived completely. The skin graft in one case was partially necrotic and healed after a dressing change. No infection occurred. At follow‐up (average, 16.3 ± 6.9 months), there was only a linear scar and no loss of sensation at the donor site of each patient. According to the outcome satisfaction scale, the outcome satisfaction score ranged from 6 to 8 (average, 7.2 ± 0.9), all of which were satisfactory. Apart from one patient who reported mild pain, all the other patients reported no pain. Three typical cases are presented in this article.ConclusionsThe free anterolateral thigh deep fascia flap, which is suitable for reconstruction of soft tissue defects in the hand, can provide very good outcomes both functionally and aesthetically.     

Parathyroid Carcinoma: A Single-Institution Experience with an Emphasis on Histopathological Features

Parathyroid carcinoma (PC) is a rare malignancy that poses a diagnostic challenge on histologic examination. We analyzed various clinicopathologic features of PC. Pathology reports and slides were reviewed to evaluate the diagnostic histopathologic features of archived cases of PC from the years of 2004–2018. The study cohort comprised twenty cases of PC. The median age was 49 years (range 21–73 years) with equal gender distribution (M:F = 1:1). Most patients presented with symptoms of hypercalcemia (n = 7, 54%). Serum calcium and serum parathyroid hormone were elevated in all but one patient. The right inferior parathyroid was commonly involved (n = 8/14, 57%). The mean tumor size was 2.4 cm (range 0.8–3.5 cm). On frozen section examination, PC was diagnosed in 8 out of 9 cases. Vascular (n = 19/20, 95%) and soft tissue invasion (n = 10/20, 50%) were the most common characteristic histologic findings. Capsular invasion was identified in all cases. Perineural invasion or metastasis at presentation was absent in all cases. Other histological features noted were intratumoral fibrous bands (70%), nodular growth pattern (70%), moderate nuclear atypia (30%), prominent nucleoli (20%), and necrosis (20%). Regional lymph nodes were negative for metastatic disease in all cases (n = 10). Eight out of 16 patients received adjuvant radiotherapy. Follow-up was available in 16 cases (median 21.5 months). Two patients died of disease. Vascular and soft tissue invasion are the most common diagnostic histologic features of PC. Capsular invasion is important to distinguish PC from its benign counterparts. Intraoperative frozen section examination can be used for accurate diagnosis and surgical management.     

正交试验法优选银翘解毒软胶囊的水煮提取工艺

采用Ｌ９（３＾４）正交设计,以浸膏得率,正丁醇浸出率,绿原酸含量为考察指标,优选银翘解毒软胶囊的水煮提取工艺。结果表明：最佳提取工艺为首次加１０倍量水,浸泡３０ｍｉｎ,煎煮２ｈ,第２次加８倍量水,煎煮１．５ｈ。