Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 35
Filter
1.
Neurol India ; 71(3): 549-551, 2023.
Article in English | MEDLINE | ID: mdl-37322756

ABSTRACT

Endodermal sinus tumor (EST) occurs most frequently in the gonads and is relatively rare in other sites, particularly in the spinal cavity. We report a 19-year-old woman who presented with back pain and weakness of both lower extremities who was found to have an EST in the spinal canal cavity. She had severely elevated serum alpha-fetoprotein (AFP) level at presentation. Magnetic resonance imaging (MRI) revealed the mass in the spinal canal. The tumor was excised. Serum AFP returned to normal after three cycles of chemotherapy. We describe the imaging findings and the macroscopic and microscopic features of this rare tumor. EST is a relatively rare malignant germ cell tumor that usually originates in the gonads and has poor prognosis. This is a rare case of the primary EST in the spinal canal. Radiologists need to be aware of the MRI appearance of extragonadal EST.


Subject(s)
Endodermal Sinus Tumor , Female , Humans , Young Adult , Adult , Endodermal Sinus Tumor/diagnostic imaging , Endodermal Sinus Tumor/surgery , alpha-Fetoproteins/therapeutic use
2.
Exp Ther Med ; 19(4): 3104-3112, 2020 Apr.
Article in English | MEDLINE | ID: mdl-32256799

ABSTRACT

Acquired aplastic anemia (AA) is a rare hematological disease characterized by bone marrow hypocellularity and varying degrees of pancytopenia. Immunosuppressive therapy (IST) is currently one of the first-line treatments for AA; however, unresponsiveness remains a major concern. Although previous studies have suggested several common risk factors for unresponsiveness, there are currently no widely accepted predictors. Therefore, a meta-analysis of clinical trials including information on factors associated with unresponsiveness of AA to IST was performed in the present study. The PubMed, Embase and Cochrane Library databases were searched for clinical studies on AA evaluating the association between risk factors and unresponsiveness to IST. After the factors were defined from the selected studies, the association between these factors and unresponsiveness to IST was analyzed using Review Manager software. A total of 10 studies comprising 1,820 cases were included in the present meta-analysis. The following factors were identified as predictors of unresponsiveness: Age (≥60 years), sex, absolute neutrophil count, severity of the disease, paroxysmal nocturnal hemoglobinuria clone, human leukocyte antigen (HLA)-DR2 and cytogenetic abnormalities (CAs). Among these factors, only age (≥60 years) [odds ratio (OR)=1.65], HLA-DR2 negativity (OR=2.72) and CAs (OR=1.93) exhibited a statistically significant association with unresponsiveness to IST (P=0.006, P=0.04 and P=0.01, respectively). In conclusion, the present meta-analysis revealed that age ≥60 years, HLA-DR2 negativity and CAs are risk factors for unresponsiveness to IST. This result may enable clinicians to select an effective therapeutic scheme for patients with AA and even provide novel clues to the pathogenesis of AA.

3.
Cancer Manag Res ; 11: 7317-7326, 2019.
Article in English | MEDLINE | ID: mdl-31447589

ABSTRACT

BACKGROUND: Monitoring the fate of implanted cells over time in an experimental animal may provide a new way to track the metastatic process. Lymph node metastase is of extremely importance for the prognostic prediction of gastric carcinoma. The aim of this study was to assess the feasibility of magnetic resonance imaging (MRI), using micron-sized superparamagnetic iron oxide particles (MPIO), for monitoring of the fate of gastric cancer cells and detecting the migration of gastric cancer cells through the lymphatic system in a mouse model. METHODS: SGC-7901 gastric cancer cells were labeled with green fluorescent MPIO. The cells were monitored in vitro at multiple time points by staining for iron-labeled cells and by flow cytometric detection of the fluorescent MPIO. MPIO-labeled cells were implanted subcutaneously into nude mice, and cellular MRI was performed at different time points until 35 days postinjection. RESULTS: The potential for retention of the iron particles in vitro was evaluated. Our results showed that the labeling and uptake efficiency of MPIO reached 90.0% after 24 hrs of incubation, and a small percentage of cells that retained MPIO could be examined until 16 days after labeling. In vivo MRI-based tracking over several weeks in mice revealed regions of signal loss in the primary tumors for up to 5 weeks. Furthermore, small regions of signal void were detected in images of the inguinal lymph nodes in three mice at day 28 postinjection or later, and histological assays confirmed the presence of iron-labeled cancer cells. CONCLUSION: This study supports MPIO-based cell tracking is a useful tool for monitoring the fate of gastric cancer cells in mice over time, which may facilitate progress in understanding the mechanisms of early regional lymph node micrometastases.

4.
Cancer Med ; 7(9): 4467-4474, 2018 09.
Article in English | MEDLINE | ID: mdl-30123969

ABSTRACT

BACKGROUND AND OBJECTIVES: Recurrence and metastasis are the most important factors affecting the quality of life and survival rate of patients with gastrointestinal stromal tumors (GISTs). Accurate preoperative determination of the malignant degree of GISTs and the development of a reasonable treatment plan can effectively reduce the recurrence rate. CT is currently considered the preferred imaging modality for initial assessment. Until now, there have only been a few studies investigating the relationship between CT features and recurrence of GISTs. However, the value of CT features in prognostic assessment is still unclear. In this study, we attempted to investigate the prognostic significance of CT features and the Ki67 index in GISTs. METHODS: We retrospectively analyzed the clinicopathological and imaging data for 151 patients with a histopathological diagnosis of GIST who had received contrast-enhanced CT examination and surgical resection at XinHua Hospital from October 2008 to December 2015 or Sir Run Run Shaw Hospital in 2017. Then, we explored the correlation among CT features, the Ki67 index, and risk stratification of GISTs. The correlation among CT features, the Ki67 index, and risk stratification was mainly analyzed using the Spearman rank correlation. RESULTS: The incidence of high-risk disease or metastasis was clearly higher in the group with Ki67 > 5% than that in the group with Ki67 ≤ 5% (P < 0.001). The Ki67 index was positively correlated with risk stratification (r = 0.558) or mitotic index (r = 0.619). CT imaging features including size, contour, and margin of the tumor were associated with the Ki67 index (r = 0.332, 0.333, and 0.302, respectively). The multivariate logistic regression analysis revealed that the tumor size [P = 0.043 Exp (B) = 1.150] and the presence of ulceration [P = 0.011, Exp (B) = 3.669] were effective variables in distinguishing between the groups with Ki67 ≤ 5% and >5%. The presence of necrosis or cystic degeneration, tumor contour, tumor margin, and pattern of enhancement were associated with risk stratification (r = 0.530, 0.501, 0.419, and 0.447, respectively). CONCLUSIONS: Our findings suggest that the Ki67 index is an effective complementation in predicting the prognosis of GISTs, and CT features including size, contour, and margin of the tumor, presence of necrosis or cystic degeneration, and pattern of enhancement provide evidence to support the importance of preoperative assessment.


Subject(s)
Gastrointestinal Stromal Tumors/diagnosis , Gastrointestinal Stromal Tumors/metabolism , Ki-67 Antigen/metabolism , Tomography, X-Ray Computed , Adolescent , Adult , Aged , Aged, 80 and over , Child , Female , Gastrointestinal Stromal Tumors/mortality , Humans , Male , Middle Aged , Mitotic Index , Odds Ratio , ROC Curve , Risk Assessment , Tomography, X-Ray Computed/methods , Young Adult
5.
Cancer Med ; 7(4): 1160-1169, 2018 04.
Article in English | MEDLINE | ID: mdl-29533002

ABSTRACT

Signet ring cell carcinoma (SRC) of the stomach is a histological type based on microscopic characteristics. SRC's clinicopathological characteristics and prognosis are still controversial. Our study is to describe the clinicopathological features and multidetector computed tomography (MDCT) findings of patients with SRC of the stomach in comparison with nonsignet ring cell adenocarcinoma (NSRC). We retrospectively analyzed data from 241 patients who had undergone curative gastrectomy, including 62 SRC and 179 NSRC. Clinicopathological outcomes and MDCT findings were evaluated, and we investigated whether these variables were correlated with histopathological type. In early gastric carcinoma, patients with SRC were younger (50.2 vs. 60.2 years; P = 0.000) and more likely to be observed in the middle and lower third stomach (P = 0.010). Early SRC had a tendency to be confined to the mucosa (82.1%). There were significant differences in degree of enhancement between early SRC and NSRC on MDCT imaging (P < 0.001). In advanced gastric carcinoma, SRC was more likely to be stage T3-4 (100%). SRC patients had thicker tumors (P = 0.001) and a higher frequency of diffusely infiltrative gross appearance (P < 0.001). SRC was more likely to have high-degree contrast enhancement than were NSRC (P = 0.001). The maximal diameter of SRC tumor on MDCT imaging correlated with lymph node metastasis (sensitivity 93.9%, specificity 74.1%) and serosal invasion (sensitivity 89.5%, specificity 78.0%) of SRC. In conclusion, SRC differs significantly from NSRC in clinicopathological features at presentation. MDCT could help differentiate advanced gastric SRC from NSRC based on the thickened stomach wall, high-degree contrast enhancement, and a higher frequency of diffusely infiltrative gross appearance, particularly in combination.


Subject(s)
Carcinoma, Signet Ring Cell/diagnosis , Stomach Neoplasms/diagnosis , Tomography, X-Ray Computed , Carcinoma, Signet Ring Cell/therapy , Female , Humans , Image Processing, Computer-Assisted , Male , Middle Aged , Neoplasm Grading , Neoplasm Invasiveness , Neoplasm Metastasis , Neoplasm Staging , ROC Curve , Radiographic Image Enhancement , Stomach Neoplasms/therapy , Tomography, X-Ray Computed/methods
6.
Taiwan J Obstet Gynecol ; 57(1): 40-46, 2018 Feb.
Article in English | MEDLINE | ID: mdl-29458901

ABSTRACT

0BJECTIVE: We compared the diagnostic accuracy of contrast-enhanced computed tomography (CT), fluorine 18-labeled-fludeoxyglucose (18F-FDG) positron emission tomography (PET)/CT and conventional magnetic resonance imaging (MRI) without and with diffusion-weighted imaging (DWI) for characterization of tubo-ovarian abscesses (TOAs) that mimic adnexal tumors. MATERIALS AND METHODS: We evaluated (retrospectively) 43 patients who underwent contrast-enhanced CT, PET/CT, conventional MRI without and with DWI, and who were found to have TOAs and complex adnexal tumors. All images were evaluated independently by four radiologists using a two-point grading system. Results of contrast-enhanced CT, PET/CT, MRI without DWI, and MRI with DWI were compared for each patient using receiver operating characteristic curves. Sensitivity, specificity, and positive predictive value (PPV) were calculated and compared using the chi-square test. RESULTS: Sensitivity of MRI with DWI (95%) was significantly higher than that of contrast-enhanced CT (78.6%), PET/CT (86.7%) and MRI without DWI (87.5%). Specificities of these modalities were not significantly different. The PPV of MRI with DWI (100%) was significantly higher than that of the other three modalities (CT, 72.4%; PET/CT 78.5%; MRI without DWI, 81.5%). Overall accuracy of MRI with DWI was significantly higher than that of the other three modalities (CT, 74.4%; PET/CT, 81.4%; MRI without DWI, 83.7%). CONCLUSION: MRI with DWI shows high accuracy for characterization of complex ovarian lesions, and is the most useful method for differentiation of TOAs from ovarian tumors.


Subject(s)
Abscess/diagnostic imaging , Adnexa Uteri/pathology , Adnexal Diseases/diagnostic imaging , Magnetic Resonance Imaging/methods , Positron-Emission Tomography/methods , Tomography, X-Ray Computed/methods , Abscess/pathology , Adnexa Uteri/diagnostic imaging , Adnexal Diseases/pathology , Adolescent , Adult , Aged , Contrast Media , Diagnosis, Differential , Female , Fluorodeoxyglucose F18 , Humans , Middle Aged , Predictive Value of Tests , ROC Curve , Retrospective Studies , Sensitivity and Specificity , Young Adult
7.
Oncotarget ; 8(28): 45698-45709, 2017 Jul 11.
Article in English | MEDLINE | ID: mdl-28501848

ABSTRACT

Mucinous gastric carcinoma (MGC) is a rare histological subtype of gastric cancer. The clinicopathological characteristics and CT features of MGC remain controversial. This study aimed to determine the clinicopathological characteristics and CT features of MGC. We reviewed 62 patients with MGC and 104 patients with non-mucinous gastric carcinoma (NMGC), pathologically confirmed between 2003 and 2015. There are significant differences in some clinicopathological characteristics and CT features between MGC and NMGC. NMGC occurs preferentially in males and more frequently in the lower third of the stomach. Patients with MGC were characterized by larger tumor size, more advanced tumor stages (II and III) and fewer lymphatic invasions. Layered enhancement (83.3%) was the main pattern of MGC, while the most common pattern in NMGC was homogeneous enhancement (52.6%), followed by heterogonous enhancement (34.6%). The degree of enhancement of the inner layer in MGC was significantly higher than in NMGC (ΔCT of portal venous phase: 54.57 Hu vs. 47.19 Hu, P = 0.034), while the middle or outer layer in MGC was significantly less enhanced (ΔCT of portal venous phase: 19.07 Hu vs. 33.09 Hu, P <0.001). Calcifications were more common in MGC (P <0.001). ROC curves revealed that the most effective variables in distinguishing MGC and NMGC were ΔCT of the middle or outer layer in the arterial phase (AUC=0.774) and portal venous phase (AUC=0.774), followed by the attenuation value of the middle or outer layer in the unenhanced phase (AUC=0.763). Calcifications had a high specificity (98.7%) in the diagnosis of MGC. The accuracy (86.1%), sensitivity (83.3%) and specificity (87.2%) of layered enhancement in diagnosing MGC were all high. Therefore, MGC was more likely to have larger tumor size and more advanced tumor stage (II and III) than NMGC. The thicker gastric wall, layered enhancement pattern and calcification were highly suggestive CT features for differentiating MGC from NMGC.


Subject(s)
Adenocarcinoma, Mucinous/diagnostic imaging , Adenocarcinoma, Mucinous/pathology , Adenocarcinoma/diagnostic imaging , Adenocarcinoma/pathology , Stomach Neoplasms/diagnostic imaging , Stomach Neoplasms/pathology , Tomography, X-Ray Computed , Adult , Aged , Aged, 80 and over , Contrast Media , Diagnosis, Differential , Female , Humans , Image Enhancement , Lymphatic Metastasis , Male , Middle Aged , Neoplasm Invasiveness , Neoplasm Staging , ROC Curve , Reproducibility of Results , Tomography, X-Ray Computed/methods , Tumor Burden
8.
Pathol Res Pract ; 213(7): 863-867, 2017 Jul.
Article in English | MEDLINE | ID: mdl-28554756

ABSTRACT

Metanephric stromal tumor (MST) of the kidney, a rare benign pediatric neoplasm recognized for less than 20 years, is not widely known. The authors describe a case of MST with rare squamous epithelium in a 14-month-old female. A renal mass was discovered during her fetal period. After her birth, computerized tomography revealed that the mass was localized in the inferior pole of her left kidney. She then underwent nephrectomy. The tumor was an unencapsulated but well-defined mass with a white, solid and firm cut surface and had dimensions of 4cm×3.5cm×3cm. The tumor was initially diagnosed as Wilms tumor because its frozen section exhibited spindle cells with cartilaginous and rare squamous epithelial elements. However, the paraffin-embedded section of the tumor exhibited bland stromal cells surrounding the entrapped tubules; this arrangement produced an "onion-skin" appearance. The rare squamous epithelial element appeared to originate from normal renal tubules. Immunohistochemistry results were positive for CD34 and INI1, as well as a low Ki-67 expression level, but were negative for S-100, Desmin, Actin, CD117 and Catenin-ß. Fluorescence in situ hybridization analysis did not detect an ETV6 rearrangement. Morphological characteristics, immunophenotyping and molecular genetic analysis indicated MST. No recurrence or metastases occurred during the follow-up period of 36 months. Epithelial elements should be examined carefully in pediatric patients with renal masses. MST should be included in their differential diagnoses.


Subject(s)
Carcinoma, Squamous Cell/pathology , Kidney Neoplasms/pathology , Stromal Cells/pathology , Biomarkers, Tumor/analysis , Biomarkers, Tumor/genetics , Biopsy , Carcinoma, Squamous Cell/chemistry , Carcinoma, Squamous Cell/genetics , Carcinoma, Squamous Cell/surgery , Diagnosis, Differential , Female , Humans , Immunohistochemistry , In Situ Hybridization, Fluorescence , Infant , Kidney Neoplasms/chemistry , Kidney Neoplasms/genetics , Kidney Neoplasms/surgery , Nephrectomy , Predictive Value of Tests , Stromal Cells/chemistry , Tomography, X-Ray Computed
9.
PLoS One ; 11(2): e0149318, 2016.
Article in English | MEDLINE | ID: mdl-26894926

ABSTRACT

OBJECTIVE: To assess the added value of diffusion-weighted magnetic resonance imaging (DWI) with apparent diffusion coefficient (ADC) values compared to MRI, for characterizing the tubo-ovarian abscesses (TOA) mimicking ovarian malignancy. MATERIALS AND METHODS: Patients with TOA (or ovarian abscess alone; n = 34) or ovarian malignancy (n = 35) who underwent DWI and MRI were retrospectively reviewed. The signal intensity of cystic and solid component of TOAs and ovarian malignant tumors on DWI and the corresponding ADC values were evaluated, as well as clinical characteristics, morphological features, MRI findings were comparatively analyzed. Receiver operating characteristic (ROC) curve analysis based on logistic regression was applied to identify different imaging characteristics between the two patient groups and assess the predictive value of combination diagnosis with area under the curve (AUC) analysis. RESULTS: The mean ADC value of the cystic component in TOA was significantly lower than in malignant tumors (1.04 ± 0 .41 × 10(-3) mm(2)/s vs. 2.42 ± 0.38 × 10(-3) mm(2)/s; p < 0.001). The mean ADC value of the enhanced solid component in 26 TOAs was 1.43 ± 0.16×10(-3) mm(2)/s, and 46.2% (12 TOAs; pseudotumor areas) showed significantly higher signal intensity on DW-MRI than in ovarian malignancy (mean ADC value 1.44 ± 0.20×10(-3) mm(2)/s vs.1.18 ± 0.36 × 10(-3) mm(2)/s; p = 0.043). The combination diagnosis of ADC value and dilated tubal structure achieved the best AUC of 0.996. Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy of MRI vs. DWI with ADC values for predicting TOA were 47.1%, 91.4%, 84.2%, 64%, and 69.6% vs. 100%, 97.1%, 97.1%, 100%, and 98.6%, respectively. CONCLUSIONS: DW-MRI is superior to MRI in the assessment of TOA mimicking ovarian malignancy, and the ADC values aid in discriminating the pseudotumor area of TOA from the solid portion of ovarian malignancy.


Subject(s)
Abscess/diagnosis , Diffusion Magnetic Resonance Imaging , Oophoritis/diagnosis , Ovarian Neoplasms/diagnosis , Salpingitis/diagnosis , Adult , Aged , Aged, 80 and over , Diagnosis, Differential , Diffusion Magnetic Resonance Imaging/methods , Female , Humans , Middle Aged , ROC Curve , Reproducibility of Results , Retrospective Studies , Young Adult
10.
World J Surg Oncol ; 14(1): 5, 2016 Jan 08.
Article in English | MEDLINE | ID: mdl-26744173

ABSTRACT

BACKGROUND: Our study aims to determine the value of diffusion-weighted imaging (DWI) combined with conventional magnetic resonance imaging (MRI) in the diagnosis of thecomas/fibrothecomas and their differential diagnosis with malignant pelvic solid tumors. METHODS: In total, 36 thecomas/fibrothecomas and 40 malignant pelvic solid tumors were included in our study. All patients underwent 1.5 T conventional MRI and DWI examinations except one patient with a fibrothecoma in whom DWI examination was not performed. The clinical features and characteristics of conventional MRI and DWI of these two groups were analyzed. Apparent diffusion coefficient (ADC) values were measured and compared between groups. Univariate analysis, multivariate logistic regression analysis, and the receiver operating characteristic curve were used for statistical analysis. RESULTS: All the thecomas/fibrothecomas showed isointensity on T1 weighted imaging (T1WI) and 77.8% (28/36) lesions showed hypo- to isointensity on T2 weighted imaging (T2WI). After administration of contrast medium, 94.4% (34/36) tumors appeared as minor to mild enhancement. On DWI, they showed a diversity of low to very high signal intensity. All malignant pelvic masses manifested as hyperintensity on T2WI and 87.5% (35/40) tumors showed very high signal (grade 3) on DWI. Higher area under the curve (AUC) and specificity could be achieved by using the lowest ADC value than the mean ADC value. Multivariate logistic regression analysis showed that shape, signal intensity on T2WI, capsule, and the lowest ADC value were the important indicators in discriminating thecomas/fibrothecomas from malignant pelvic solid tumors. CONCLUSIONS: The combination of DWI and conventional MRI is of great value in the diagnosis of thecomas/fibrothecomas and their differential diagnosis with malignant pelvic solid tumors.


Subject(s)
Diffusion Magnetic Resonance Imaging/methods , Fibroma/diagnosis , Neoplasms, Complex and Mixed/diagnosis , Ovarian Neoplasms/diagnosis , Pelvic Neoplasms/diagnosis , Thecoma/diagnosis , Adolescent , Adult , Aged , Case-Control Studies , Diagnosis, Differential , Female , Humans , Logistic Models , Magnetic Resonance Imaging , Middle Aged , Multivariate Analysis , ROC Curve , Retrospective Studies , Sensitivity and Specificity , Young Adult
11.
Int J Neurosci ; 126(10): 878-87, 2016 Oct.
Article in English | MEDLINE | ID: mdl-26299848

ABSTRACT

INTRODUCTION: Papillary meningioma is a rare subtype of malignant meningiomas. The aim of this retrospective study was to investigate the clinical, radiological, histopathological features and prognosis for papillary meningioma at our institutions. MATERIALS AND METHODS: Ten patients with clinically, radiologically and histopathologically confirmed papillary meningiomas were treated at our hospitals. The clinical data, imaging characteristics, histopathological features, surgical treatment and postoperative follow-up, were analyzed retrospectively. RESULTS: The patients with a mean age of 36.9 years at the time of their initial operations. The papillary meningiomas were predominantly located in the convexity (n = 6). At their initial operation, six patients underwent gross total resection and four patients underwent subtotal resection. The mean post-operative follow-up period was 42.6 months (range: 12-90 months). Six patients underwent multiple surgical resections. The mean time to first recurrence was 21.5 months. On magnetic resonance imaging scan, marked enhancements and dural tail signs were displayed in all lesions. All lesions showed peritumoral edema. Cysts were seen in four lesions. Bone hyperostosis or destruction was seen in six lesions. Cerebrospinal fluid dissemination was seen in three lesions. Incomplete surgical resection was associated with recurrence. MIB-1 labeling index was associated with progression-free survival for patients (p = 0.0442). CONCLUSIONS: Papillary meningioma has a tendency to present in middle-aged patients, and it has specific clinical and histopathological characteristics. MIB-1 labeling index and the extent of resection might predict the recurrence. Cystic formation, peritumoral edema, osseous change and CSF dissemination might be neuroimaging characteristics of papillary meningioma, especially in recurrence papillary meningioma.


Subject(s)
Meningeal Neoplasms/surgery , Meningioma/surgery , Neoplasm Recurrence, Local , Outcome Assessment, Health Care , Adolescent , Adult , Antibodies, Antinuclear , Antibodies, Monoclonal , Female , Follow-Up Studies , Humans , Male , Meningeal Neoplasms/complications , Meningeal Neoplasms/diagnostic imaging , Meningioma/complications , Meningioma/diagnostic imaging , Middle Aged , Retrospective Studies , Young Adult
12.
BMC Nephrol ; 15: 175, 2014 Nov 07.
Article in English | MEDLINE | ID: mdl-25381091

ABSTRACT

BACKGROUND: Collagen IV-related nephropathies, including thin basement membrane nephropathy and Alport Syndrome (AS), are caused by defects in the genes COL4A3, COL4A4 and COL4A5. Diagnosis of these conditions can be hindered by variable penetrance and the presence of non-specific clinical or pathological features. METHODS: Three families with unexplained inherited kidney disease were recruited from Shanghai, China. Whole exome sequencing (WES) was performed in the index case from each family and co-segregation of candidate pathogenic mutations was tested by Sanger sequencing. RESULTS: We identified COL4A4 missense variants [c.G2636A (p.Gly879Glu) and c.C4715T (p.Pro1572Leu)] in the 21-year-old male proband from family 1, who had been diagnosed with mesangial proliferative nephropathy at age 14. COL4A4 c.G2636A, a novel variant, co-segregated with renal disease among maternal relatives. COL4A4 c.C4715T has previously been associated with autosomal recessive AS and was inherited from his clinically unaffected father. In family 2, a novel COL4A3 missense mutation c.G2290A (p.Gly997Glu) was identified in a 45-year-old male diagnosed with focal segmental glomerulosclerosis and was present in all his affected family members, who exhibited disease ranging from isolated microscopic hematuria to end stage renal disease (ESRD). In family 3, ESRD occurred in both male and females who were found to harbor a known AS-causing COL4A5 donor splice site mutation (c.687+1G>A). None of these variants were detected among 100 healthy Chinese individuals. CONCLUSION: WES identified 2 novel and 2 known pathogenic COL4A3/COL4A4/COL4A5 mutations in 3 families with previously unexplained inherited kidney disease. These findings highlight the clinical range of collagen IV-related nephropathies and resolved diagnostic confusion arising from atypical or incomplete clinical/histological findings, allowing appropriate counselling and treatment advice to be given.


Subject(s)
Asian People/genetics , Autoantigens/genetics , Collagen Type IV/genetics , Collagen Type VI/genetics , Exome/genetics , Kidney Diseases/genetics , Mutation, Missense , Point Mutation , Pseudogenes/genetics , Sequence Analysis, DNA/methods , Aged , Amino Acid Substitution , China/epidemiology , Chromosomes, Human, Pair 2/genetics , Chromosomes, Human, X/genetics , DNA Mutational Analysis , Female , Genes, X-Linked , Genetic Diseases, X-Linked/ethnology , Genetic Diseases, X-Linked/genetics , Glomerulonephritis, Membranoproliferative/genetics , Glomerulosclerosis, Focal Segmental/genetics , Humans , Kidney Diseases/ethnology , Male , Middle Aged , Nephrotic Syndrome/genetics , Pedigree , Sequence Alignment , Sequence Homology, Amino Acid , Young Adult
13.
World J Surg Oncol ; 12: 365, 2014 Nov 29.
Article in English | MEDLINE | ID: mdl-25432796

ABSTRACT

BACKGROUND: Benign and malignant bone tumors can present similar imaging features. This study aims to evaluate the significance of apparent diffusion coefficients (ADC) in differentiating between benign and malignant bone tumors. METHODS: A total of 187 patients with 198 bone masses underwent diffusion-weighted (DW) magnetic resonance (MR) imaging. The ADC values in the solid components of the bone masses were assessed. Statistical differences between the mean ADC values in the different tumor types were determined by Student's t-test. RESULTS: Histological analysis showed that 84/198 (42.4%) of the bone masses were benign and 114/198 (57.6%) were malignant. There was a significant difference between the mean ADC values in the benign and malignant bone lesions (P<0.05). However, no significant difference was found in the mean ADC value between non-ossifying fibromas, osteofibrous dysplasia, and malignant bone tumors. When an ADC cutoff value≥1.10×10(-3) mm2/s was applied, malignant bone lesions were excluded with a sensitivity of 89.7%, a specificity of 84.5%, a positive predictive value of 82.6%, and a negative predictive value of 95.3%. CONCLUSIONS: The combination of DW imaging with ADC quantification and T2-weighted signal characteristics of the solid components in lesions can facilitate differentiation between benign and malignant bone tumors.


Subject(s)
Bone Neoplasms/diagnosis , Diffusion Magnetic Resonance Imaging , Neoplasms/pathology , Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Diagnosis, Differential , Female , Follow-Up Studies , Humans , Image Interpretation, Computer-Assisted , Infant , Male , Middle Aged , Neoplasm Staging , Prognosis , Young Adult
14.
Zhonghua Bing Li Xue Za Zhi ; 43(6): 403-7, 2014 Jun.
Article in Chinese | MEDLINE | ID: mdl-25208992

ABSTRACT

OBJECTIVE: To study clinicopathologic features, immunohistochemical profile, diagnosis and differential diagnosis of childhood central nervous system primitive neuroectodermal tumors (CNS PNETs) with the features of ependymoblastoma and neuroblastoma. METHODS: The clinical data, morphologic and immunohistochemical features were analyzed in 4 cases of pediatric CNS PNETs with features of ependymoblastoma and neuroblastoma. EnVision method immunohistochemistry was applied. RESULTS: Four patients including three boys and one girl presented at the age from 12 month to 4 years and three tumors located in cerebrum, one in brain stem. All tumors showed typical combined histological patterns of ependymoblastoma and neuroblastoma, demonstrating zones of true rosettes, occasional pseudovascular rosettes, and undifferentiated neuroepithelial cells in a prominent background of mature neuropils. There was focal expression of glial fibrillary acidic protein (GFAP) consistent with glial differentiation and epithelial membrane antigen (EMA) consistent with ependymal differentiation. Necrosis was seen in three cases and calcification was present in one case. Immunohistochemically, the rosettes and undifferentiated neuroepithelial cells were positive for vimentin, partially positive for GFAP and EMA but negative for synaptophysin. The tumor cells were also positive for synaptophysin in neuropils. The Ki-67 label index ranged from 20% to 60%. CONCLUSIONS: CNS PNETs with the features of ependymoblastoma and neuroblastoma is a rare tumor with poor prognosis. The tumor primarily occurs in childhood, especially infant and belongs to the family of embryonal tumors of the CNS. The morphologic, immunohistochemical and genetic features are important in differential diagnosis from other tumors of the CNS.


Subject(s)
Neuroblastoma/pathology , Neuroectodermal Tumors, Primitive, Peripheral/pathology , Neuroectodermal Tumors, Primitive/pathology , Antigens, Neoplasm/metabolism , Central Nervous System/pathology , Child , Female , Glial Fibrillary Acidic Protein/metabolism , Humans , Immunohistochemistry , Infant , Male , Mucin-1/metabolism , Neuroblastoma/diagnosis , Neuroectodermal Tumors, Primitive/diagnosis , Neuroectodermal Tumors, Primitive, Peripheral/diagnosis , Synaptophysin/metabolism , Vimentin/metabolism
15.
World J Surg Oncol ; 12: 257, 2014 Aug 12.
Article in English | MEDLINE | ID: mdl-25117604

ABSTRACT

BACKGROUND: Nasal chondromesenchymal hamartoma (NCMH) is an extremely rare benign tumor, primarily diagnosed in young infants and children and it often simulates malignant tumors on imaging. CASE PRESENTATION: We present computerized tomography and magnetic resonance imaging findings of two nasal chondromesenchymal hamartomas in a 5-year-old boy and a 6-week-old girl. CONCLUSIONS: NCMH is a rare, benign tumor-like lesion with good biologic behavior. No recurrence after complete resection or malignant transformation of NCMH has been reported. A correct diagnosis is imperative to avoid unnecessary adjuvant therapy.


Subject(s)
Hamartoma/diagnosis , Magnetic Resonance Imaging , Nasal Cavity , Nose Neoplasms/diagnosis , Soft Tissue Neoplasms/diagnosis , Tomography, X-Ray Computed , Child, Preschool , Female , Humans , Infant , Male , Mesoderm/pathology , Nasal Cartilages/pathology , Nasal Cavity/diagnostic imaging , Nasal Cavity/pathology
17.
World J Gastroenterol ; 19(37): 6245-57, 2013 Oct 07.
Article in English | MEDLINE | ID: mdl-24115823

ABSTRACT

AIM: To reveal the clinicopathological features and risk factors for lymph node metastases in gastric cardiac adenocarcinoma of male patients. METHODS: We retrospective reviewed a total of 146 male and female patients with gastric cardiac adenocarcinoma who had undergone curative gastrectomy with lymphadenectomy in the Department of Surgery, Xin Hua Hospital and Rui Jin Hospital of Shanghai Jiaotong University Medical School between November 2001 and May 2012. Both the surgical procedure and extent of lymph node dissection were based on the recommendations of Japanese gastric cancer treatment guidelines. Univariate and multivariate analyses of lymph node metastases and the clinicopathological features were undertaken. RESULTS: The rate of lymph node metastases in male patients with gastric cardiac adenocarcinoma was 72.1%. Univariate analysis showed an obvious correlation between lymph node metastases and tumor size, gross appearance, differentiation, pathological tumor depth, and lymphatic invasion in male patients. Multivariate logistic regression analysis revealed that tumor differentiation and pathological tumor depth were the independent risk factors for lymph node metastases in male patients. There was an obvious relationship between lymph node metastases and tumor size, gross appearance, differentiation, pathological tumor depth, lymphatic invasion at pN1 and pN2, and nerve invasion at pN3 in male patients. There were no significant differences in clinicopathological features or lymph node metastases between female and male patients. CONCLUSION: Tumor differentiation and tumor depth were risk factors for lymph node metastases in male patients with gastric cardiac adenocarcinoma and should be considered when choosing surgery.


Subject(s)
Adenocarcinoma/secondary , Cardia/pathology , Stomach Neoplasms/pathology , Adenocarcinoma/surgery , Adolescent , Adult , Aged , Aged, 80 and over , Cardia/surgery , Cell Differentiation , Chi-Square Distribution , Female , Gastrectomy , Humans , Logistic Models , Lymph Node Excision , Lymphatic Metastasis , Male , Middle Aged , Multivariate Analysis , Neoplasm Staging , Retrospective Studies , Risk Factors , Sex Factors , Stomach Neoplasms/surgery , Young Adult
18.
Indian J Pediatr ; 80(4): 345-8, 2013 Apr.
Article in English | MEDLINE | ID: mdl-22544674

ABSTRACT

The authors report a 12-mo-old girl with calcified cerebral cryptococcal granuloma. She was admitted with a 6-mo history of seizures. Laboratory examinations showed no abnormal findings. Electroencephalography revealed bilateral slow wave activity, greater in the right occipital region. CT showed an irregular calcified focus with small surrounding low density in the right parieto-occipital region. MRI demonstrated mixed signals without edema and visible flow-voids. The clinical symptoms mimicked intracranial vascular malformations. The diagnosis of cerebral cryptococcal granuloma was made by histopathology. Partial resection of the lesion with post-operatively antifungal and anticonvulsant therapy offered the satisfactory result. Cerebral cryptococcal granuloma is extremely rare, especially in infants. Calcification is indeed unusual. Cerebral cryptococcal granuloma should be included in the differential diagnosis of intracranial mass with calcification in infants.


Subject(s)
Brain Diseases/diagnosis , Calcinosis/diagnosis , Cryptococcus , Eosinophilic Granuloma/diagnosis , Parietal Lobe/diagnostic imaging , Parietal Lobe/pathology , Brain Diseases/complications , Brain Diseases/microbiology , Brain Diseases/surgery , Calcinosis/complications , Calcinosis/surgery , Child, Preschool , Cryptococcus/isolation & purification , Diagnosis, Differential , Electroencephalography , Eosinophilic Granuloma/complications , Eosinophilic Granuloma/microbiology , Eosinophilic Granuloma/surgery , Female , Humans , Magnetic Resonance Imaging , Neurosurgical Procedures/methods , Parietal Lobe/surgery , Patient Readmission , Seizures/etiology , Tomography, X-Ray Computed , Treatment Outcome
19.
Abdom Imaging ; 38(1): 193-200, 2013 Feb.
Article in English | MEDLINE | ID: mdl-22527159

ABSTRACT

PURPOSE: To determine the incremental value of magnetic resonance (MR) diffusion-weighted (DW) imaging for the diagnosis of pelvic inflammatory diseases (PID). MATERIALS AND METHODS: We added DW sequences to conventional MR imaging in 187 patients with clinically suspected PID. The imaging findings included shape, signal intensity on T1-weighted, T2-weighted, and DW imaging, shade in the peripheral lesions, free pelvic fluid, and lymphadenopathy. RESULTS: Laparoscopic and pathological findings confirmed the diagnosis in all patients. Conventional MR findings were consistent with a diagnosis of PID in 90.7% (117/129) and of non-PID in 93.3% (28/30) of the 159 patients. The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of conventional MR imaging findings vs. the addition of DW imaging to conventional MR protocols for predicting PID were 90.7%, 93.3%, 98.3%, 70.0%, and 91.2% and 98.4%, 93.3%, 98.4%, 93.3%, and 97.5%, respectively. CONCLUSION: The addition of DW sequences to conventional MR imaging can improve the accuracy of diagnosis in PID.


Subject(s)
Magnetic Resonance Imaging/methods , Pelvic Inflammatory Disease/diagnosis , Adolescent , Adult , Aged , Analysis of Variance , Diffusion Magnetic Resonance Imaging , Female , Humans , Middle Aged , Pelvic Inflammatory Disease/pathology , Sensitivity and Specificity
20.
World J Surg Oncol ; 10: 237, 2012 Nov 09.
Article in English | MEDLINE | ID: mdl-23137333

ABSTRACT

BACKGROUND: Preoperative characterization of complex solid and cystic adnexal masses is crucial for informing patients about possible surgical strategies. Our study aims to determine the usefulness of apparent diffusion coefficients (ADC) for characterizing complex solid and cystic adnexal masses. METHODS: One-hundred and 91 patients underwent diffusion-weighted (DW) magnetic resonance (MR) imaging of 202 ovarian masses. The mean ADC value of the solid components was measured and assessed for each ovarian mass. Differences in ADC between ovarian masses were tested using the Student's t-test. The receiver operating characteristic (ROC) was used to assess the ability of ADC to differentiate between benign and malignant complex adnexal masses. RESULTS: Eighty-five patients were premenopausal, and 106 were postmenopausal. Seventy-four of the 202 ovarian masses were benign and 128 were malignant. There was a significant difference between the mean ADC values of benign and malignant ovarian masses (p < 0.05). However, there were no significant differences in ADC values between fibrothecomas, Brenner tumors and malignant ovarian masses. The ROC analysis indicated that a cutoff ADC value of 1.20 x10-3 mm2/s may be the optimal one for differentiating between benign and malignant tumors. CONCLUSIONS: A high signal intensity within the solid component on T2WI was less frequently in benign than in malignant adnexal masses. The combination of DW imaging with ADC value measurements and T2-weighted signal characteristics of solid components is useful for differentiating between benign and malignant ovarian masses.


Subject(s)
Diffusion Magnetic Resonance Imaging , Magnetic Resonance Imaging , Ovarian Cysts/diagnosis , Ovarian Neoplasms/diagnosis , Adolescent , Adult , Aged , Aged, 80 and over , Child , Diagnosis, Differential , Female , Humans , Image Interpretation, Computer-Assisted , Middle Aged , Prognosis , Retrospective Studies , Young Adult
SELECTION OF CITATIONS
SEARCH DETAIL
...