Combined detection of KRAS, NRAS, BRAF and PIK3CA mutations in the plasma and tumor tissues of colorectal cancer patients / 中华病理学杂志

Objective@#To analyze the concordance of KRAS, NRAS, BRAF and PIK3CA gene mutations detected in plasma and matched tumor tissues in colorectal cancer patients, in order to provide good evidences to support plasma could be a potential surrogate of tumor tissue for gene mutation test.@*Methods@#One hundred and seventy-five cases of colorectal cancer were collected at the First Hospital of Jilin University, from October 2016 to October 2017.There were 101 males and 74 females, their ages ranged from 28 to 85 years,with median age of 59 years. The KRAS, NRAS, BRAF and PIK3CA gene mutations in the plasma and paired tumor specimens of all patients were detected by next generation sequencing.@*Results@#The results of tissue samples test were gold standard. Comparison of the four genes showed that concordance rates between plasma and tissue samples were 81.1%(Kappa=0.543), 99.4%(Kappa=0.886), 99.4% (Kappa=0.886) and 97.7%(Kappa=0.714) respectively for KRAS, NRAS, BRAF and PIK3CA. The plasma detection rates of these genes were related to tumor stage(P=0.001), but not to gender(P=0.468) and age(P=1.000) of patients.@*Conclusions@#The study shows a high concordance of KRAS, NRAS, BRAF and PIK3CA gene mutations in plasma against mutation status in tumor tissue. In colorectal cancer, tumor tissue remains the best specimen for gene detection. However, patients from tumor tissue specimens cannot be obtained, especially those with advanced metastases, plasma can be used instead of tissue to detect the mutation status of KRAS, NRAS, BRAF and PIK3CA to guide targeted therapy.

Intraoperative parathyroid hormone examination in parathyroidectomy for primary hyperparathyroidism / 中华内分泌外科杂志

Objective To explore the effect of intraoperative parathyroid hormone (IOPTH) examination on parathyroidectomy for primary hyperparathyroidism.Methods The clinical data of 41 PHPT patients who received IOPTH monitoring (IOPTH group) from Jan.2009 to Dec.2014 were retrospectively analyzed.The clinical manifestation,examination and changes of parathyroid hormone and calcium before and after operation were collected.Results There were 12 males and 29 females.36 cases had parathyroid adenoma,and 5 cases were parathyroid carcinoma.23 cases were positive in 24 cases of 99Icm-MIBI parathyroid adenoma radionuclide examination,and 2 cases were positive in 3 cases of parathyroid carcinoma radionuclide 99Tcm-MIBI inspection (P＝ 0.213).10 mins after tumor resection,PTH in all cases decreased by 50％ or more than that before tumor resection except for one case of parathyroid carcinoma.23 cases appeared hypocalcemia in 36 cases of parathyroid adenoma after surgery and 2 cases appeared hypocalcemia in 5 cases of parathyroid cancer patients (P＝0.361).No postoperative hoarseness,cough,bleeding occoured.Patients were followed up from 6 to 72 months.Hypocalcemia symptoms recovered 2 weeks to 3 months after surgery.No permanent hypoparathyroidism occured.One case of parathyroid carcinoma died of hypercalcemia 5 months after surgery.The remaining 40 cases survived without recurrence or death.Conclusions Intraoperative PTH monitoring can help doctors analyze whether all the hyperthyroidism glands have been removed,which can help to avoid miss diagnosis of multiple gland disease and unnecessary bilateral neck exploration.This method is highly accurate so it is recommended for routine use in PHPT surgery.

Expression of tumor stem cell marker ALDH1 in invasive bladder cancer tissue and its relationship with clinicopathological parameters and prognosis / 吉林大学学报(医学版)

Objective To study the expression of tumor stem cell marker aldehyde dehydrogenase 1 (ALDH1)in invasive bladder cancer tissue and to clarify its relationship with the biological behavior of bladder cancer. Methods The ALDH1 expression in 109 cases of primary invasive carcinomas specimens (case group)and 20 cases of normal bladder tissue surrounding cancer (control group)was detected by immunohistochemistry. At the same time,the ALDH1 expression in 6 cases of metastatic pelvic lymph node tissue and 20 cases of non-metastatic pelvic lymph node tissue was detected. The relationship between the ALDH1 expression and the chinicopathological charateristics of invasive bladder cancer and its influence in the survival rate and disease-free survival were analyzed. Results The positive rates of ALDH1 expression in bladder cancer tissue and normal bladder tissue were 33.94%(37/109)and 5.00% (1/20),respectively,there was significant different between them (P<0.01);they were 19.05% (8/42)and 43.28% (29/67)in the cases with non muscle invasive and nmuscle invasive bladder cancer, respectively,there was significant difference (P<0.01);they were 13.04% (3/23)and 39.53% (34/86)in the cases of bladder cancer with low grade and high grade,respectively,there was significant difference (P<0.05);they were 50.00% (3/6)and 12.90% (4/31)in the tissue of bladder cancer with metastatic lymph nodes and non metastatic ones,respectively,there was significant difference (P<0.05);they were 50.00% (3/6)and 0.00%(0/20)in the metastatic lymph nodes and non metastatic ones,respectively,there was significant difference (P<0.01).The overall survival rate in the patients with positive ALDH1 expression was 64.9% while it was 84.7% in negative ones,there was significant difference (P<0.05);the disease-free Survival was 51.4% and 75% in the patients with positive and negative ALDH1 groups,respectively,there was significant difference (P<0.05). Conclusion The high expression of tumor stem cell marker ALDH1 is associated with staging, grading and prognosis of invasive bladder cancer.ALDH1 may play a role in the tumorigenesis,progression and metastasis of bladder cancer.

Study on relationship between expression of survivin, galectin-3 and TPO and BRAFV600E mutation in patients with papillary thyroid microcarcinoma and its clinical significance / 中国免疫学杂志

Objective:To detect the expressions of survivin, galectin-3 and thyroid peroxidase in papillary thyroid microcarcinoma ( PTMC) and cancer adjacent normal tissue to explore the clinical significant.The correlations between the expressions of survivin,Gal-3 and TPO with BRAFV600E gene mutation in PTMC were analyzed.Methods: The expressions of survivin,Gal-3 and TPO were measured by immunohistochemical ( IHC ) method in 56 cases of PTMC tissue and adjacent normal tissue; BRAFV600E mutation was detected by PCR amplification and subsequently sequencing.Chi square test was used to analyse the relation in the expression rates of survivin,Gal-3 and TPO and BRAFV600E gene mutation.Results:The survivin and Gal-3 were strongly expressed but TPO was negatively expressed.The survivin and Gal-3 were negative in adjacent normal tissues but TPO was expressed.There were sig-nificant differences in the expression rates of survivin, Gal-3 and TPO between PTMC tissue and adjacent normal tissue (all P0.05).There were no correlation was found between the expressions of survivin,Gal-3,TPO and the BRAFV600E gene mutation in PTMC(all P>0.05).Conclusion: The strong expressions of survivin and Gal-3,the mild expression of TPO and BRAF mutation may be important in the development of PTMC,and the detection of BRAFV600E gene mutation and the expressions of survivin, Gal-3 and TPO could be used to the judgment of pathogenetic condition and prognostic outcomes.

Comparison of BRAF mutation detection in patients with papillary thyroid microcarcinoma by ARMS and direct sequencing / 中国免疫学杂志

Objective:To investigate the sensitivity and the specificity of scorpions amplification refractory mutation system ( ARMS) in comparing with that of direct DNA sequencing in the detection of BRAF gene mutations in patients with papillary thyroid microcarcinoma.Methods:Direct sequencing and ARMS were used simultaneously to detect BRAF mutation status in 56 patients with PTMC.Results:BRAF mutations were identified in 46 cases with a mutation rate of 82.9%by ARMS,while in 18 cases with a mutation rate of 32.1%by direct sequencing.Besides,the sensitivity of ARMS was 100%and that of direct sequencing was 39.1%.There were significant differences of both mutation rate and sensitivity between two methods ( P<0.01 ).Conclusion: Compared to direct sequencing,ARMS gains a higher sensitivity in the detection of BRAF mutations in samples with tiny lesions.

Visceral myopathy causing acute colonic pseudoobstruction / 中华消化外科杂志

Visceral myopathy is a rare disorder characterized by atrophy,losing and fibrosis of visceral smooth muscle.Digestive tract is often invaded by the lesions,and the symptoms are various according to different lesions and degrees.Small intestinal involvement is characterized by abdominal distension,diarrhea and vomiting.Colon involvement is characterized by chronic intestinal pseudoobstruction.Malnutrition and hypoproteinemia may be secondary to this disease.The diagnosis of visceral myopathy is difficult,paralytic ileus,chronic constipation and systemic sclerosis must be considered in the differential diagnosis.The progression of the disease is slow,and the longterm prognosis is poor.In this article,the diagnosis and treatment of visceral myopathy causing acute intestinal pseudoobstruction were introduced based on the clinical data of 1 patient.