ABSTRACT
Objective@#To investigate the clinicopathologic and molecular genetic features of secretory carcinoma of salivary gland (SCSG).@*Methods@#Six cases of SCSG were collected from Zhejiang Provincial People's Hospital from January 2011 to March 2018. The clinical, histopathological and immunohistochemical features were analyzed and fluorescence in situ hybridization (FISH) was used to detect ETV6 gene rearrangement.@*Results@#Four out of 6 tumors originated in the parotid gland and one of each in the minor salivary glands of soft palate and the buccal mucosa. Grossly, 4 cases were solid and 2 were partially cystic with maximum diameter ranging from 1.0 to 4.0 cm. Microscopically, 5 tumors showed typical features of low grade SCSG with tumor divided by thin fibrous septa into lobules composed of solid acinar, microcystic, follicular and papillary structures with abundant extracellular mucinous secretions. The tumor cells had cuolated or hobnail cytoplasm with low-grade nuclei and scarce mitoses. Perineural invasion was present in 1 case. The remaining tumor showed about 30% of the tumor areas with high-grade transformation characterized by proliferation of a distinct population of anaplastic cells arranged in irregular glandular, small nested and single cell patterns that were surrounded by desmoplastic stroma and invaded into surface mucosa with ulceration. Immunohistochemistry showed that all 6 tumors had diffuse and strong reactivities to S100 protein and cytokeratin 7, and 4 cases showed focal reactivity to gross cystic disease fluid protein 15 (GCDFP15), all were negative for discovered on gist 1 (DOG1), cytokeratin 20, p63 and calponin. High grade transformation cases were analysed, the high grade SCSG components showed a significantly increased Ki-67 index and cyclin D1 positive tumor cells compared to the conventional SCSG components. FISH analyses showed that 4 cases had ETV6 gene rearrangement. Eleven to seventy one months' follow-up showed no evidence of tumor recurrence nor metastasis.@*Conclusions@#SCSG harbors characteristic genetic abnormalities with ETV6 gene rearrangement and typically shows a low grade morphology with occasionally, high grade transformation can be present.
ABSTRACT
Objective@#To investigate the histomorpholgic spectrum, immunophenotypic, and molecular genetic features of Sertoli cell tumor, not otherwise specified (SCT, NOS) of the testis.@*Methods@#Seven cases of SCT, NOS of the testis were analyzed(4 from Peking University Third Hospital and 3 from Zhejiang Provincial People′s Hospital) between 2008 and 2017. The histopathologic features were examined based on HE staining, and EnVision method was used for immunohistochemistry staining of calretinin, inhibin, β-catenin, cyclinD1, CD10, CKpan, neuroendocrine markers, WT1, Melan A, vimentin, SALL4, GATA3, PAX8, and S-100 protein. Mutational analysis of exon 3 of the CTNNB1 gene by polymerase chain reaction (PCR)-amplified sequences and direct sequencing was performed.@*Results@#Patients ages ranged from 22 to 65 years (mean 43 years). The clinical manifestation in all was a slowly enlarging, painless testicular mass.The maximum diameter of the tumor ranged from 1.5 cm to 3.0 cm (mean 2.1 cm). Sectioning usually disclosed a tan-gray to white mass with vague lobular cut-surface. Microscopically, the tumors were well circumscribed and non-encapsulated; the tumor cells were rearranged in multiple growth patterns from diffuse solid sheets to trabeculae and cords, ribbon and solid or hollow tubules setting in variable amount of acellular fibrous stroma. Two cases showed acellular collagenous stroma constituted >50% of the tumor confirming to the diagnosis of sclerosing SCT. One case demonstrated a prominent myxoid stromal change. The tumor cells typically had moderate amounts of pale to lightly eosinophilic cytoplasm, 2 tumors had variable cells with abundant lipid-rich cytoplasm, and 1 other tumor showed scattered aggregates of multinucleated tumor cells. The tumor cells were bland-appearing without any evidence of atypia, mitoses were noted in 2 tumors (both were 1/50 HPF), but necrosis was absent. Immunohistochemical staining results as follows: vimentin (diffuse, 7/7), CD10 (diffuse membrane, 7/7); diffuse β-catenin nuclear and cytoplasm staining in 5 of 7 cases, and all the 5 cases showed diffuse cyclin D1 nuclear staining, β-catenin membrane staining in 2 of 7 cases, CKpan (5/7, focal or diffuse), calretinin (focal, 5/6), inhibin (focal, 3/7), synaptophysin (focal, 2/6), CD56 (focal or diffuse, 4/5), WT1 (diffuse nuclear, 4/5), and S-100 protein (diffuse, 3/7), and chromogranin A, Melan A, PAX8, GATA3 and SALL4 all were negative. Molecular genetic studies of PCR and direct sequencing showed CTNNB1 mutations in 4 of 7 (4/7) cases, 4 of the four mutation-carrying cases showed diffuse β-catenin nuclear and cytoplasm immunoreactivity and diffuse cyclin D1 nuclear immunoreactivity in the tumor cells.@*Conclusions@#SCT, NOS of the testis typically shows significant heterogeneities in both morphology and immunohistochemistry, thus causing differential diagnostic confusions. Molecular analyses showed mutations of exon 3 of CTNNB1 in more than half of these tumors, and nuclear accumulation of β-catenin and over expression of cyclin D1 can be useful for the differential diagnosis of SCT, NOS.
ABSTRACT
Objective To understand the cognition and attitude of patients, medical staff and medical examination people on biobanks and their willingness to donation. Methods A cross-sectional study was conducted among 452 individuals, including patients, medical staff and people receiving health checkup at a hospital in Beijing from July to September, 2017. The questionnaire assessed the respondents′demographic data, general knowledge about biobanking and the factors influencing their willingness to donate specimens to biobanks. Pearson′s Chi-square test, student t test or ANOVA were used for univariate analysis. Additionally, the linear regression analysis and logistic regression analysis were used for multivariate analyses. Results A total of 452 questionnaires were delivered, and the effective questionnaires amounted to 440, including 196 medical staff, 123 patients and 121 health checkup individuals. The awareness score of biobanks was significantly different among the medical staff, patients and health checkup individuals ( P < 0. 05 ) . After adjustment for potential risk factors, we found that the population characteristics and the experience of participation in a medical research were the independent beneficial factors of the awareness score. The percentage of the willingness of donation in medical staff, health checkup individuals and patients were 83. 7％, 76. 9％ and 70. 7％, respectively. The results of univariate analyses suggested that the population characteristics, education level, health conditions, the history of blood donation, and the experience of participation in a medical research were significantly associated with the willingness to donate ( all P <0. 05 ) . Population characteristics and health conditions were independently relevant to the willingness of donation, after multivariate analyses of logistic regression. Conclusions Despite the strong willingness to donate biospecimens, patients and health checkup individuals lack knowledge of biobanking. It is apparent that we need to strengthen promotions and to encourage the ethics and humanities to improve the knowledge of biosample donation, for healthy development of hospital-based biobanks.
ABSTRACT
Objective To investigate the accelerating role of recombinant human parathyroid hormone (PTH) in bone fracture repair.Methods 2-month old male Sprague-Dawley rats underwent closed unilateral femoral fracture and intramedullary nail fixation.The rats were divided into 2 equal groups randomly: the treatment group receiving subcutaneous injection of rhPTH(1-34) 10 μg/(kg·d) immediately after operation and for 2,7,14,21 and 42 d,respectively, and the control group receiving subcutaneous injection of normal saline in the same volume.X-ray and micro-CT were conducted at 2, 7, 14, 21 and 42 days after surgery.Results The continuity of porosis between fracture sides was better and fracture line has been blurred in the PTH-treated group at 21 days after fracture compared with the control group, the bone volume (BV),BV/TV, bone mineral density(BMD)and trabecular pattern factor (Tb.Pf) were significantly higher, and trabecular separation (Tb.Sp) and degree of anisotropy (DA) were significantly lower in the PTH-treated group at 42 days after fracture.Conclusions Our findings suggest that a low dose recombinant human parathyroid hormone can accelerate the bone fracture healing, probably through improving the BV, BV/TV, Tb.P and BMD, and decreasing the Tb.Sp and DA.
ABSTRACT
Objective@#To investigate the clinicopathologic characteristics, immunophenotypes, molecular genetics, and diagnostic and differential diagnostic features of biphenotypic sinonasal sarcoma (BSNS).@*Methods@#Three cases of BSNS were retrieved, the histomorphology, immunophenotype and molecular genetics were analyzed with review of literature.@*Results@#There were 2 male and 1 female patient aged 45, 29 and 40 years, respectively.Computed tomography and magnetic resonance imaging examinations showed a large polypoid mass occupying the sinonasal cavity in all 3 patients. Microscopically, these tumors were un-circumscribed and composed of cellular spindle-shaped cells arranged in long and interlaced fascicles. A hemangiopericytoma-like growth pattern was frequently identified. The overlying hyperplastic respiratory epithelium invaginated down into the tumor forming a cystic (2 cases), glandular (1 case) structures and inverted in a papilloma-like (1 case)pattern, and foci of eosinophilic metaplasia were also noted in 2 of the three cases. The tumor nuclei were bland-appearing, mitoses were scarce and necrosis was absent. Immunohistochemically, the tumor cells showed co-expression of neural and myogenic markers in all the 3 cases, including that 3/3 showed diffuse and strong positivity of S-100 protein, 3/3 positivity of smooth muscle actin (1 diffuse and 2 focal), 1/2 diffuse positivity of calponin, 1/3 focal positivity of desmin, and 1/1 focal positivity of MyoD1.In addition, 1 detected for β-catenin showed focal nuclear positivity. None of the 3 showed positivity to cytokeratin, CD34 or SOX10 in the tumor cells.Ki-67 showed an index <5%, 10% and <2%, respectively. Fluorescence in situ hybridization analysis showed rearrangements of PAX3 gene in all 3 cases. In case 3, reverse transcription polymerase chain reaction, followed by Sanger sequencing, demonstrated an in-frame fusion between PAX3 and FOXO1.Follow-up information (range 3-15 months)showed no evidence of local recurrence or distant metastasis in three cases.@*Conclusions@#BSNS is a newly described entity which can be readily confused with a variety of benign and malignant spindle cell tumors encountered in the sinonasal cavity; immunohistochemistry co-expression of neural and myogenic markers and PAX3 gene rearrangement can help distinguish this tumor from its many mimickers.
ABSTRACT
Objective@#To investigate the morphologic, immunohistochemical, genetic, clinical features and prognosis of Ewing-like BCOR-CCNB3 gene fusion undifferentiated sarcoma (BCOR-CCNB3 fusion sarcoma).@*Method@#Seventeen Ewing-like sarcoma cases were screened for CCNB3 expression and BCOR-CCNB3 fusion transcripts by immunohistochemistry and RT-PCR among 260 cases of Ewing-like sarcomas collected during Jan, 2006 to Dec, 2015. Three cases of BCOR-CCNB3 fusion sarcoma were found among 17 atypical Ewing sarcomas, and follow-up were conducted.@*Results@#The harboring of BCOR-CCNB3 fusion transcript was confirmed by RT-PCR and directly sequencing results. The three patients aged between 8 and 11 years old. Two of them were male and the other one was female. One patient achieved a complete response after chemotherapy, the other two died without chemotherapy after surgical excision in 12 months. Tumor cells in all 3 cases showed diffuse nuclear CCNB3, TLE1 and cyclin D1 positivity, while CCNB3 (0/12), TLE1 (1/12) and cyclin D1 (4/12) positivity was infrequent in the 12 cases of classical Ewing′s sarcoma. The oval or plump spindle tumor cells with fine chromatin arranged in solid pattern, the nucleoli was inconspicuous. The delicate capillary networks were obvious in the tumor.@*Conclusion@#With a detailed description of the histological spectrum, immunohistochemical features and clinical characteristic of BCOR-CCNB3 sarcoma, justify distinction from Ewing sarcoma could be possible.
ABSTRACT
Purpose To investigate the mutations of ID3,TCF3 and MYC genes in Chinese Burkitt lymphoma and discuss their significance.Methods Total DNA was extracted from tumor tissues of 32 patients with Burkitt lymphoma,then the DNA was amplified by polymerase chain reaction (PCR),and the products of PCR were sequenced directly with Sanger sequencing methods.Results The mutation rates of ID3 and TCF3 genes were 35.5％ (11/31) and 18.8％ (6/32) respectively.The mutation rate of MYC was 50％.The mutation rates of MYC exon 1,MYC exon 2 and MYC exon 3 were 3.3％ (1/30),50％ (15/30) and 7.7％ (2/26) respectively.Conclusion Recurrent mutations of the ID3,TCF3 and MYC genes in Chinese Burkitt lymphoma were identified by Sanger sequencing.For TCF3 gene,a novel mutation c.2202G ＞ C p.L569V was found in three cases.In two cases,a novel mutation of c.1070A ＞G p.G182D was found in MYC gene.
ABSTRACT
Objective To study the effects of intermittent low?dose administration of recombinant human parathyroid hor?mone (1-34) [rhPTH(1-34)] in the expression of Osterix (Osx) during early stage of fracture healing. Methods Forty?eight 2?month old male Sprague?Dawley rats were underwent close unilateral femoral fracture and intramedullary nail fixation. The sub?jects were divided into 2 equal groups randomly:treatment group undergoing subcutaneous injection of rhPTH(1-34) 10 mg/kg/d immediately after the operation and control group undergoing subcutaneous injection of normal saline of the same dose. Six rats in each group were sacrifice at 2, 7, 14, and 21 days after operation. X?ray photography study was conducted at 7, 14 and 21 days. Tissue RNA and protein were extracted from the bone tissues of bilateral femurs and the expression levels of Osx mRNA and pro?tein were evaluated via real time quantitative PCR and Western?blotting. Results Fracture healing was significant at 14 days af?ter operation, and the progress of fracture healing was better in the rhPTH(1-34) group than in the control group at 14 and 21 days. The relative expression of Osx mRNA and protein in the fractured femurs of the rhPTH(1-34) group (5.02±0.5 and 10.03±0.8 for Osx mRNA, 3164.03±131 and 3509.02±126 for protein) at 14 and 21 days after the operation were significantly higher than those of the control group (2.30±0.4 and 4.01±0.7 for Osx mRNA, 1053.04±121 and 2721.03±123 for protein). However, there was no significant difference at 2 and 7 days after operation between the rhPTH(1-34) and control group. Conclusion Intermittent low?dose administration of rhPTH(1-34) up?regulates the expression levels of osteogenesis?specific Osx mRNA and protein in rats. It will accelerate the early phase of fracture healing process.
ABSTRACT
OBJECTIVE: To investigate the bone mineral density (BMD) of cervical vertebrae in a population-stratified manner and correlate with that of the lumbar vertebrae. MATERIALS AND METHODS: Five hundred and ninety-eight healthy volunteers (254 males, 344 females), ranging from 20 to 64 years of age, were recruited for volumetric BMD (vBMD) measurements by quantitative computed tomography. Basic information (age, height, weight, waistline, and hipline), and vBMD of the cervical and lumbar vertebrae (C2-7 and L2-4) were recorded. Comparisons among sex, age groups and different levels of vertebrae were analyzed using analysis of variance. Linear regression was performed for relevance of different vertebral levels. RESULTS: The vBMD of cervical and lumbar vertebrae was higher in females than males in each age group. The vBMD of the cervical and lumbar vertebrae in males and the vBMD of lumbar vertebrae in females decreased with aging. In each age group, the vBMD of the cervical vertebrae was higher than that of the lumbar vertebrae with gradual decreases from C2 to C7 except for C3; moreover, the vBMD of C6 and C7 was significantly different from that of C2-5. Correlations of vBMD among different cervical vertebrae (females: r = 0.62-0.94; males: r = 0.63-0.94) and lumbar vertebrae (males: r = 0.93-0.98; females: r = 0.82-0.97) were statistically significant at each age group. CONCLUSION: The present study provided normative data of cervical vertebrae in an age- and sex-stratified manner. Sex differences in vBMD prominently vary with age, which can be helpful to design a more comprehensive pre-operative surgical plan.
Subject(s)
Female , Humans , Male , Aging , Asian People , Bone Density , Cervical Vertebrae , Healthy Volunteers , Linear Models , Lumbar Vertebrae , Sex Characteristics , SpineABSTRACT
Objective To establish tissue biobank of osteoarthritis in Beijing Jishuitan Hospital to promote orthopedic research study in China.Methods Fresh tissue or blood samples were collected from patients who underwent surgical operation for osteoarthritis since July 2007.Clinical information of the patientswasalsocollected.MicrosoftAccessdatabasesystemwasusedforthemanagementof information.Results From July 2007 to November 2011,a total of 2605 medical records and15188 tissue or blood samples were collected.Among them,165 tissue samples and 2005 blood samples were provided for molecular biology or epidemiological research.Conclusion Human tissue biobank is important for research work.Present osteoarthritis tissue collection and storage is feasible and could supply quality samples for study.
ABSTRACT
Objective To investigate the relationship between the levels of proteoglycan and collagen type Ⅱ in serum and severity of knee osteoarthritis, and to determine whether the two markers could reflect the metabolic changes of cartilage after different knee operations. Methods Serum samples and roentgenographic data of 65 patients with knee osteoarthritis and 22 normal persons in controls were collected. Three different operations were performed for 45 patients respectively. These patients were followed up for half a year. The serum levels of proteoglycan and collagen type Ⅱ epitope were analysed using an enzyme-linked immunosorbent assay(ELISA). Results Epitope levels of proteoglycan and collagen type Ⅱ in serum of osteoarthritis patients were higher than those in control group. The serum levels of both markers in the group that the roentgenograph show minor narrowing of joint space were highest. Half a year after total knee replacement, the level of proteoglycan decreased significantly(P