Mutation analysis for a family affected with von Hippel-Lindau syndrome / 中华医学遗传学杂志

OBJECTIVE@#To detect VHL gene mutation in a pedigree affected with von Hippel-Lindau syndrome (VHL).@*METHODS@#Clinical data of the pedigree was reviewed. Patients were subjected to Sanger sequencing to detect mutation of the VHL gene. Structure of pVHL was predicted by 3D modeling using the swiss-model.@*RESULTS@#A novel c.426delT(p.V142fs) [NM_000551] mutation was found in exon 2 of the VHL gene. 3D modeling suggested that the alpha-structure of pVHL is completely absent.@*CONCLUSION@#The novel c.426delT(p.V142fs) mutation probably underlies the VHL in this pedigree.

Verification and evaluation of the prognostic models for extranodal natural killer / T-cell lymphoma, nasal type / 白血病·淋巴瘤

Objective To verify and evaluate the prognostic models for extranodal natural killer/T-cell lymphoma, nasal type (ENKL). Methods ENKL patients in the 105th Hospital of PLA from January 1990 to December 2015 were retrospectively analyzed, and patients were followed to the August 2016 through telephone and medical records. The models were evaluated by C-index, and the prognostic ability of each factor was assessed by survival curves. Results A total of 76 patients met the inclusion criteria, with a median age of 41.9 years old (range, 14-74 years old), all patients received chemotherapy, and 49 received radiation therapy. During the median observation time (37.0 months), 37 patients died in a median of 28.4 months. The prognostic factors of Eastern Cooperative Oncology Group performance status (ECOG PS) score, level of lactate dehydrogenase (LDH) and Ann Arbor staging were the influencing factors of overall survival in the univariate survival analysis (all P<0.05), and only ECOG PS score was significant in the multivariate Cox regression (OR: 4.231, 95 ％ CI 2.172-8.240, P= 0.000). C-index of international prognostic index (IPI) was 0.541 (95 ％ CI 0.534- 0.555), and those of model with ECOG PS score, Ann Arbor staging, primary lesion invasion, LDH and age as the indicators and model with ECOG PS core, Ann Arbor staging, primary lesion invasion, LDH and hemoglobin as the indicators were both 0.726 (95 ％ CI 0.626-0.826). Conclusion Both model with ECOG PS score, Ann Arbor staging, primary lesion invasion, LDH and age as the indicators and model with ECOG PS core, Ann Arbor staging, primary lesion invasion, LDH and hemoglobin as the indicators can accurately predict the prognosis of patients with ENKL and are significantly better than the IPI model.

The variables in normalizing glomerular filtration rate / 中华核医学与分子影像杂志

Normalizing GFR with variables is important for non-cancer patients,especially for kidney donors.The most frequently evaluated variables are body surface area (BSA),extracellular fluid volume (ECV) and lean body mass (LBM).It is difficult to accurately quantify BSA and the power of BSA normalization decreases in children and obesity population.The ECV normalization is suitable for healthy children,but its clinical value decreases in patients with damaged renal function.The LBM can be accurately measured and has a larger serviceable range in the normalization.Although the influence factors of LBM should be extensively evaluated,the available data indicate that LBM is more suitable in the normalization of GFR than BSA and ECV.

The clinical value of three phase bone scans in differentiating benign from malignant bone foci / 肿瘤研究与临床

Objective To compare the results of three phase bone scans between benign and malignant lesions, and explore its clinical value. Methods Patients with pain symptom underwent three phase bone scan. Their corresponding clinical data was collected and input into SPSS software package for further evaluation. Results Forty-nine patients had 73 positive foci in the acquiring field of vascular and blood pool phase bone scans. Excluding 10 foci that suspected of bone metastasis, 37 of 63 were malignant,26 were benign lesion. On vascular, blood pool and delayed images, benign and malignant foci did not exist any significant difference (χ2 =3.341, 1.685 and 2.923, P ＞0.05). In these lesions, 33.3 % (5/15) foci had positive vascular and blood pool results in thoracic, 72.2 % (13/18) in extremity and 75.0 % (18/24) in pelvic.There were no significant difference among subgroup of chest, abdomen, limb and pelvic diseases. In addition,4 foci outside bone system were occasionally found in three phase bone scans. Conclusion Acquiring position could significantly affect the results of three phase bone scan, for example more sensitive rate can be found for limb and pelvis lesions. This method could not significantly differentiate malignant from benign lesions, but could detect soft tissue foci or the change of blood flow, and provide more information for differential diagnosis.