• Journal of Gynecologic Oncology
• /
• v.29 no.6
• /
• pp.90.1-90.12
• /
• 2018

Objective: We performed small-scale mutation and large genomic rearrangement (LGR) analysis of BRCA1/2 in ovarian cancer patients to determine the prevalence and the characteristics of the mutations. Methods: All ovarian cancer patients who visited a single institution between September 2015 and April 2017 were included. Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), and long-range polymerase chain reaction (PCR) were performed to comprehensively study BRCA1/2. The genetic risk models BRCAPRO, Myriad, and BOADICEA were used to evaluate the mutation analysis. Results: In total, 131 patients were enrolled. Of the 131 patients, Sanger sequencing identified 16 different BRCA1/2 small-scale mutations in 20 patients (15.3%). Two novel nonsense mutations were detected in 2 patients with a serous borderline tumor and a large-cell neuroendocrine carcinoma. MLPA analysis of BRCA1/2 in Sanger-negative patients revealed 2 LGRs. The LGRs accounted for 14.3% of all identified BRCA1 mutations, and the prevalence of LGRs identified in this study was 1.8% in 111 Sanger-negative patients. The genetic risk models showed statistically significant differences between mutation carriers and non-carriers. The 2 patients with LGRs had at least one blood relative with breast or ovarian cancer. Conclusion: Twenty-two (16.8%) of the unselected ovarian cancer patients had BRCA1/2 mutations that were detected through comprehensive BRCA1/2 genetic testing. Ovarian cancer patients with Sanger-negative results should be considered for LGR detection if they have one blood relative with breast or ovarian cancer. The detection of more BRCA1/2 mutations in patients is important for efforts to provide targeted therapy to ovarian cancer patients.

• Korean Journal of Radiology
• /
• v.23 no.7
• /
• pp.732-741
• /
• 2022

Objective: To determine the impact of dedicated subspecialized radiologists in multidisciplinary team (MDT) discussions on the management of lower gastrointestinal (GI) tract malignancies. Materials and Methods: We retrospectively analyzed the data of 244 patients (mean age ± standard deviation, 61.7 ± 11.9 years) referred to MDT discussions 249 times (i.e., 249 cases, as five patients were discussed twice for different issues) for lower GI tract malignancy including colorectal cancer, small bowel cancer, GI stromal tumor, and GI neuroendocrine tumor between April 2018 and June 2021 in a prospective database. Before the MDT discussions, dedicated GI radiologists reviewed all imaging studies again besides routine clinical reading. The referring clinician's initial diagnosis, initial treatment plan, change in radiologic interpretation compared with the initial radiology report, and the MDT's consensus recommendations for treatment were collected and compared. Factors associated with changes in treatment plans and the implementation of MDT decisions were analyzed. Results: Of the 249 cases, radiologic interpretation was changed in 73 cases (29.3%) after a review by dedicated GI radiologists, with 78.1% (57/73) resulting in changes in the treatment plan. The treatment plan was changed in 92 cases (36.9%), and the rate of change in the treatment plan was significantly higher in cases with changes in radiologic interpretation than in those without (78.1% [57/73] vs. 19.9% [35/176], p < 0.001). Follow-up records of patients showed that 91.2% (227/249) of MDT recommendations for treatment were implemented. Multiple logistic regression analysis revealed that the nonsurgical approach (vs. surgical approach) decided through MDT discussion was a significant factor for patients being managed differently than the MDT recommendations (odds ratio, 4.48; p = 0.017). Conclusion: MDT discussion involving additional review of radiology examinations by dedicated GI radiologists resulted in a change in the treatment plan in 36.9% of cases. Changes in treatment plans were significantly associated with changes in radiologic interpretation.

• Radiation Oncology Journal
• /
• v.12 no.1
• /
• pp.73-80
• /
• 1994

From December 1989 to February 1993, 108 patients with Non-Small Cell Lung Cancers(NSCLC) were studied retrospectively to evaluate radiotherapeutic significance of serum levels of NSE. We considered elevated serum neuron specific enolase(S-NSE) level as one of the neuroendocrine features in NSCLC. Histopathologic evaluation revealed 86 squamous cell carcinomas, 11 adenocarcinomas.3 large cell carcinomas, 3 mucoepidermoid carcinomas, and 5 unknown pathology. Eight Patients had stage 1,40 stage IlIA, and 60 stage lIIB.S-NSE level greater than 15 ng/ml was considered as elevated, and below this considered as normal. All patients recieved radiotherapy as primary treatment modality. The responders to radiotherapy had significantly higher mean S-NSE level than non-responders (28.5 ng/ml vs 20 ng/ml, p=0.01). Overall 2-year survival rate(YSR) was 23.6$ \% $. According to radiotherapy response, 2 YSR for Patients with CR, PR, and NR were 39.2$ \% $, 28.6$ \% $, and 6.2$ \% $ respectively(p=0.001). 2 YSR for patients with elevated and normal S-NSE were 14.6$ \% $ and 31.7$ \% $(p=0.02). The patients with NR showed no difference in survival according to S-NSE level. When we considered all patients, S-NSE level showed no significant impact on response. But for squamous cell carcinomas alone, patients with elevated S-NSE had more responders(80$ \% $ vs 61$ \% $, p=0.05). There was no correlation between tumor characteristics and S-NSE level. But the patients with elevated S-NSE had more patients with higher nodal stage, Based on our and other datas, NSCLC with neuroendocrine features have different response to treatment and clinical behavior compared to other NSCLC. Thus, this subgroup may need different treatment modality, and S-NSE level may have prognostic significance.