The Korean Journal of Internal Medicine Vol. 29, No. 5 (Suppl. 1)
WCIM 2014 SEOUL KOREA 401
Slide Session
OP4-1 Others
Target Sequencing of Papillary Renal Cell Carcinoma, Type 2, Using Custom-Made Kidney Cancer Panel
Ji-Yeon Kim1, Se-Hoon Lee1, Jong-Il Kim2, Jong-Yeon Shin2, Kyung Chul Moon3, Cheol Kwak4, Hyeon Hoe Kim4, Dae seog Heo1
Department of Internal Medicine, Seoul National University Hospital, Korea1, Genomic Medicine Institute, Medical Research Center, Seoul National University, Korea2, Department of Pathology, Seoul National University Hospital, Korea3, Department of Urology, Seoul National University Hospital, Korea4 Background:Papillary renal cell carcinoma type2 (PRCC2) has poor prognosis, treat- ment strategy is not established and the genetic alteration is poorly understood. We sequenced PRCC2 samples using custom-made kidney cancer panel to fi gure out ge- netic alterations of PRCC2.
Methods: We have reviewed publications about the genetics of kidney cancer includ- ing all subtypes and selected 55 candidate genes. This cancer panel consisted of 1022 regions by Agilent SureSelect Target Enrichment. We sequenced 12 PRCC2 tumor sam- ples along with 6 paired normal tissue samples. The patients’ age were ranged from 26 to 82 year-old, and 3 patients were female (25%). Genomic DNA was isolated from dis- sected tumor tissue samples (6 fresh, frozen and 6 formalin-fi xed, paraffi n-embedded) and normal tissue samples. Sequencing was performed by Illumina platform and aligned to H. sapiens, hg19, GRCh37. Total probe number was 4103 and size was 283.494 kbp.
Results: Fifty-four of 55 target genes had 100% coverage, in spite of 92.7% coverage of one target gene. We found two novel FH mutations (one single nucleotide variant and one 5bp indel) and one novel NFE2L2 mutation. Two out of 12 samples (17%) were altered in NRF2 pathway (1 NFE2L2 and 1 KEAP) which was already well-known as driver in PRCC2. Novel PBRM1 mutation in two samples and SETD2 mutation in one sample were identifi ed. In addition, PTEN, TSC1, KDM5C and AKT1 mutation are observed in one case, respectively. No VHL mutation in PRCC2 was revealed.
Conclusions: We analyzed somatic mutation of PRCC2 with custom-made kidney cancer panel. We found several candidate driver mutations of PRCC2. Our result reveals that the genetics of PRCC2 is heterogeneous, therefore, the approach using kidney cancer panel could be used to characterize individual PRCC2.
OP4-2 Others
Chemotherapy for the Patients with Metastatic Primary Adenocarcinoma of Bladder
Sung Yong Oh1, Suee Lee1, Sung Hyun Kim1, Ji Hyun Lee1, Hyo Jin Kim1, Jung Hun Kang2, Soon Il Lee3, Young Mi Seol4, Young-Jin Choi4, Min Jae Park5, Moon Jin Kim6, Ho Yeong Lim6, Sun Young Rha7, Hyo Song Kim7, Seung Taek Lim8, Ki Hyang Kim9, In Gyu Hwang10
Dong-A University Medical Center, Korea1, Gyeongsang National University Hospital, Korea2, Dankook University College of Medicine, Korea3, Pusan National University Hospital, College of Medicine, Korea4, Busan University Yangsan Hospital, Korea5, Samsung Medical Center, Korea6, Yonsei University College of Medicine, Korea7, Konyang University Hospital, Korea8, Busan Paik Hospital, Inje University College of Medicine, Korea9, Chung-Ang University College of Medicine, Korea10
Background: By defi nition, primary adenocarcinoma of the bladder (PAB) is a ma- lignant neoplasm derived from urothelium of the bladder showing histologically pure glandular differentiation.Because of its rarity, role of chemotherapy for metastatic PAB is still questionable. Therefore, we performed a retrospective analysis of the clinical features and chemotherapy outcomes of metastatic PAB.
Methods: Eligible patients for this retrospective analysis were initially diagnosed with adenocarcinoma and presented with a clinically no other primary site of origin. Unifi ed case report forms were provided to participating institutions.
Results: We retrospectively reviewed 27 patients who treated with chemotherapy as metastatic PAB at nine Korean medical institutions from 2004 to 2014.The median age of patients was 58 years (range, 26 to 78 years) and 51.9% of the patients were female. Fourteen patients were urachal adenocarcinoma. Of 25 symptomatic patients, 19 experienced gross hematuria. Ten patients had two or more metastatic sites of the lungs (48.1%), peritoneum (33.3%), and ovary (22.2%), as the most common sites.
Eleven patients were treated with 5-FU based chemotherapy, 4 were gemcitabine based, 3 were taxane and adriamycin based, and others. 13 of them achieved CR (14.8%) or PR (33.3%). Median PFS and OS for all patients were 10.6 months (95%
confi dence interval [CI], 9.6 to 11.6 months) and 23.5 months (95% CI, 13.6 to 33.4 months), respectively. In the prognostic factor analysis, the cases of urachal adenocar-
cinoma had worse tendency in PFS and OS (p=0.058 and P=0.113, respectively).
Conclusions: Metastatic PAC is a highly aggressive form of bladder cancer. Despite most of chemotherapy, PFS and OS were short, however, there were some long-term survivors, therefore, additional research on the predictive markers of several clinical, pathological differences and their treatments will be needed.
OP4-4 Others
Prognostic Signifi cance of Ki-67 Labeling Index in Who Grade Ⅱ Meningioma
Yunseon Choi1, Do Hoon Lim2, Jeong Il Yu2, Kyungil Jo3, Do-Hyun Nam3, Ho Jun Seol3, Jung-Il Lee3, Doo-Sik Kong3, Yeon-Lim Suh4, Yun-Han Lee5
Department of Radiation Oncology, Inje University Busan Paik Hospital, Korea1, Department of Radiation Oncology, Samsung Medical Center, Korea2, Department of Neurosurgery, Samsung Medical Center, Korea3, Department of Pathology, Samsung Medical Center, Korea4, Department of Radiation Oncology, Yonsei University College of Medicine, Korea5
Purpose: This study was performed to determine the clinical signifi cance of the Ki-67 labeling index (LI) for local control in patients with WHO grade Ⅱ meningioma.
Methods: The medical records and values of Ki-67 LI’s were retrospectively reviewed for 50 patients who underwent surgical resection of intracranial WHO grade Ⅱ men- ingiomas at Samsung Medical Center from May 2001 to Dec 2012. Simpson grade Ⅰ,
Ⅱ, Ⅲ, and Ⅳ resections were performed in 16, 23, 5, and 6 patients, respectively.
Forty-three patients (86%) were treated with immediate postoperative radiotherapy (PORT). The median total radiation dose was 60 Gy (range 54-60).
Results: The median follow-up was 47.4 months. The mean Ki-67 LI was 13% (range 1-47%). Twelve patients (24.0%) showed local failure, and 8 patients (16.0%) experi- enced local failure even after PORT. The mean Ki-67 LI was 15% in patients with local failure (n=12) and 12% in patients without local failure (n=38). The 3-year actuarial local control was 80.5%. The 3-year overall survival was 89.5%. Ki-67 LI > 13% and PORT were significant prognostic factors for local control (p=0.015 and p=0.009, respectively). In patients with Ki-67 LI > 13% (n=17), PORT (n=14) improved local control (p<0.001). However, PORT (n=29) did not affect local control (p=0.412) for patients with Ki-67 LI = 13% (n=33).
Conclusions: Ki-67 LI can be a useful prognostic factor for local control in WHO grade
Ⅱ meningioma. In patients with Ki-67 LI > 13%, PORT may be recommended in order to improve local control.
