Cancer Research and Treatment

Original Articles

Gastrointestinal cancer

Universal Screening for Lynch Syndrome Compared with Pedigree-Based Screening: 10-Year Experience in a Tertiary Hospital: Min Hyun Kim, Duck-Woo Kim, Hye Seung Lee, Su Kyung Bang, Soo Hyun Seo, Kyung Un Park, Heung-Kwon Oh, Sung-Bum Kang; Cancer Res Treat. 2023;55(1):179-188. Published online March 21, 2022; DOI: https://doi.org/10.4143/crt.2021.1512

Purpose
Universal screening for Lynch syndrome (LS) refers to routine tumor testing for microsatellite instability (MSI) among all patients with colorectal cancer (CRC). Despite its widespread adoption, real-world data on the yield is lacking in Korean population. We studied the yield of adopting universal screening for LS in comparison with pedigree-based screening in a tertiary center.
Materials and Methods
CRC patients from 2007-2018 were reviewed. Family histories were obtained and were evaluated for hereditary nonpolyposis colorectal cancer (HNPCC) using Amsterdam II criteria. Tumor testing for MSI began in 2007 and genetic testing was offered using all available clinicopathologic data. Yield of genetic testing for LS was compared for each approach and step.
Results
Of the 5,520 patients, tumor testing was performed in 4,701 patients (85.2%) and family histories were obtained from 4,241 patients (76.8%). Hereditary CRC (LS or HNPCC) was present in 69 patients (1.3%). MSI-high was present in 6.9%, and 25 patients had confirmed LS. Genetic testing was performed in 41.2% (47/114) of MSI-high patients, out of which 40.4% (19/47) were diagnosed with LS. There were six additional LS patients found outside of tumor testing. For pedigree-based screening, Amsterdam II criteria diagnosed 55 patients with HNPCC. Fifteen of these patients underwent genetic testing, and 11 (73.3%) were diagnosed with LS. Two patients without prior family history were diagnosed with LS and relied solely on tumor testing results.
Conclusion
Despite widespread adoption of routine tumor testing for MSI, this is not a fail-safe approach to screen all LS patients. Obtaining a thorough family history in combination with universal screening provides a more comprehensive ‘universal’ screening method for LS.

Citations

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Colon cancer: the 2023 Korean clinical practice guidelines for diagnosis and treatment
Hyo Seon Ryu, Hyun Jung Kim, Woong Bae Ji, Byung Chang Kim, Ji Hun Kim, Sung Kyung Moon, Sung Il Kang, Han Deok Kwak, Eun Sun Kim, Chang Hyun Kim, Tae Hyung Kim, Gyoung Tae Noh, Byung-Soo Park, Hyeung-Min Park, Jeong Mo Bae, Jung Hoon Bae, Ni Eun Seo, Cha
Annals of Coloproctology.2024; 40(2): 89. CrossRef
Hereditary Colorectal Cancer: From Diagnosis to Surgical Options
Rami James N. Aoun, Matthew F. Kalady
Clinics in Colon and Rectal Surgery.2024;[Epub] CrossRef
Universal screening of colorectal tumors for lynch syndrome: a survey of patient experiences and opinions
Alexander T. Petterson, Jennifer Garbarini, Maria J. Baker
Hereditary Cancer in Clinical Practice.2024;[Epub] CrossRef
Genetic Testing for Prostate Cancer, Urothelial Cancer, and Kidney Cancer
Hyunho Han, Minyong Kang, Seok-Soo Byun, Seok Joong Yun
Journal of Urologic Oncology.2023; 21(2): 128. CrossRef
Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria
Miguel Angel Trujillo-Rojas, María de la Luz Ayala-Madrigal, Melva Gutiérrez-Angulo, Anahí González-Mercado, José Miguel Moreno-Ortiz
Hereditary Cancer in Clinical Practice.2023;[Epub] CrossRef
Hereditary Colorectal Cancer: State of the Art in Lynch Syndrome
Antonio Nolano, Alessia Medugno, Silvia Trombetti, Raffaella Liccardo, Marina De Rosa, Paola Izzo, Francesca Duraturo
Cancers.2022; 15(1): 75. CrossRef

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Ligand-Independent Epidermal Growth Factor Receptor Overexpression Correlates with Poor Prognosis in Colorectal Cancer: Sumi Yun, Yoonjin Kwak, Soo Kyung Nam, An Na Seo, Heung-Kwon Oh, Duck-Woo Kim, Sung-Bum Kang, Hye Seung Lee; Cancer Res Treat. 2018;50(4):1351-1361. Published online January 17, 2018; DOI: https://doi.org/10.4143/crt.2017.487

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Purpose
Molecular treatments targeting epidermal growth factor receptors (EGFRs) are important strategies for advanced colorectal cancer (CRC). However, clinicopathologic implications of EGFRs and EGFR ligand signaling have not been fully evaluated. We evaluated the expression of EGFR ligands and correlation with their receptors, clinicopathologic factors, and patients’ survival with CRC.
Materials and Methods
The expression of EGFR ligands, including heparin binding epidermal growth factor-like growth factor (HBEGF), transforming growth factor (TGF), betacellulin, and epidermal growth factor (EGF), were evaluated in 331 consecutive CRC samples using mRNA in situ hybridization (ISH). We also evaluated the expression status of EGFR, human epidermal growth factor receptor 2 (HER2), HER3, and HER4 using immunohistochemistry and/or silver ISH.
Results
Unlike low incidences of TGF (38.1%), betacellulin (7.9%), and EGF (2.1%), HBEGF expression was noted in 62.2% of CRC samples. However, the expression of each EGFR ligand did not reveal significant correlations with survival. The combined analyses of EGFR ligands and EGFR expression indicated that the ligands‒/EGFR+ group showed a significant association with the worst disease-free survival (DFS; p=0.018) and overall survival (OS; p=0.005). It was also an independent, unfavorable prognostic factor for DFS (p=0.026) and OS (p=0.007). Additionally, HER4 nuclear expression, regardless of ligand expression, was an independent, favorable prognostic factor for DFS (p=0.034) and OS (p=0.049), by multivariate analysis.
Conclusion
Ligand-independent EGFR overexpression was suggested to have a significant prognostic impact; thus, the expression status of EGFR ligands, in addition to EGFR, might be necessary for predicting patients' outcome in CRC.

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Systematic literature review and meta-analysis of HER2 amplification, overexpression, and positivity in colorectal cancer
Harshabad Singh, Ashley Kang, Lisa Bloudek, Ling-I Hsu, Maria Corinna Palanca-Wessels, Michael Stecher, Muriel Siadak, Kimmie Ng
JNCI Cancer Spectrum.2024;[Epub] CrossRef
Molecular characterization of colorectal mucinous adenocarcinoma and adenocarcinoma, not otherwise specified, identified by multiomic data analysis
Kailun Xu, Shu Zheng, Baosheng Li, Yingkuan Shao, Xiaoyang Yin
Frontiers in Molecular Biosciences.2023;[Epub] CrossRef
Mechanism of 5-fluorouracil nanoparticles on releasing skin squamous cell carcinoma through regulation of Wnt/β-catenin expression
Lixin Peng, Xinping Zhang, Bin Du, Liangliang Sun, Yuguang Zhao
Materials Express.2022; 12(2): 220. CrossRef
Research on Anti-Tumor Nano-Particle with New Type 5-Fluorouracil on the Peritoneal Metastasis of Breast Cancer
Yujie Xiao, Guilin Huang, Yibo Xiang
Journal of Biomaterials and Tissue Engineering.2021; 11(7): 1277. CrossRef
Growth Factors, PI3K/AKT/mTOR and MAPK Signaling Pathways in Colorectal Cancer Pathogenesis: Where Are We Now?
Constantin Stefani, Daniela Miricescu, Iulia-Ioana Stanescu-Spinu, Remus Iulian Nica, Maria Greabu, Alexandra Ripszky Totan, Mariana Jinga
International Journal of Molecular Sciences.2021; 22(19): 10260. CrossRef
SOX2 Promotes Brain Metastasis of Breast Cancer by Upregulating the Expression of FSCN1 and HBEGF
Weikai Xiao, Shaoquan Zheng, Xinhua Xie, Xing Li, Lijuan Zhang, Anli Yang, Jian Wang, Hailin Tang, Xiaoming Xie
Molecular Therapy - Oncolytics.2020; 17: 118. CrossRef
Combined Therapeutic Effects of ¹³¹I-Labeled and 5Fu-Loaded Multifunctional Nanoparticles in Colorectal Cancer

Pingping Wu, Huayun Zhu, Yan Zhuang, Xiaofeng Sun, Ning Gu
International Journal of Nanomedicine.2020; Volume 15: 2777. CrossRef
Enhanced antitumor efficacy in colon cancer using EGF functionalized PLGA nanoparticles loaded with 5-Fluorouracil and perfluorocarbon
Pingping Wu, Qing Zhou, Huayun Zhu, Yan Zhuang, Jun Bao
BMC Cancer.2020;[Epub] CrossRef
HER4 promotes the progression of colorectal cancer by promoting epithelial‑mesenchymal transition
Xiaojing Jia, Huien Wang, Zhongxin Li, Jing Yan, Yan Guo, Wujie Zhao, Lixia Gao, Bin Wang, Yitao Jia
Molecular Medicine Reports.2020;[Epub] CrossRef
Epidermal Growth Factor Receptor: Key to Selective Intracellular Delivery
A. A. Rosenkranz, T. A. Slastnikova
Biochemistry (Moscow).2020; 85(9): 967. CrossRef
Co-expression and prognostic significance of putative CSC markers CD44, CD133, wild-type EGFR and EGFRvIII in metastatic colorectal cancer
Said Abdullah Khelwatty, Sharadah Essapen, Izhar Bagwan, Margaret Green, Alan M. Seddon, Helmout Modjtahedi
Oncotarget.2019; 10(18): 1704. CrossRef

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Curative Resection for Metachronous Pulmonary Metastases from Colorectal Cancer: Analysis of Survival Rates and Prognostic Factors: Myong Hoon Ihn, Duck-Woo Kim, Sukki Cho, Heung-Kwon Oh, Sanghoon Jheon, Kwhanmien Kim, Eun Shin, Hye Seung Lee, Jin-Haeng Chung, Sung-Bum Kang; Cancer Res Treat. 2017;49(1):104-115. Published online May 9, 2016; DOI: https://doi.org/10.4143/crt.2015.367

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Purpose
Prognostic factors in patients with pulmonary metastases (PM) from colorectal cancer (CRC) are still controversial. This study assessed oncologic outcomes and prognostic factors in patients with metachronous PM from CRC.
Materials and Methods
Between June 2003 and December 2011, 122 patients with CRC underwent curative resection of PM detected at least 4 months after CRC resection. Clinico-pathological factors selected from the prospectively maintained database were analyzed retrospectively.
Results
The median disease-free interval (DFI) between resection of the primary tumor and detection of PM was 22.0 months (range, 4 to 85 months). Solitary PM were detected in 77 patients (63.1%), with a median maximal tumor diameter of 12.0 mm (range, 2 to 70 mm). Of 52 patients who underwent mediastinal lymph node (LN) dissection, eight patients had LN involvement. Five-year overall survival and disease-free survival (DFS) rates after initial pulmonary metastasectomy were 66.4% and 50.9%, respectively. DFI, mediastinal LN involvement, and the number and distribution of PM were significantly prognostic factors for DFS. In multivariable analysis DFI ≥ 12 months, solitary lesion, and absence of mediastinal LN involvement were independently prognostic for DFS. Of the 122 patients, 48 patients (39.3%) developed recurrent PM a median 13.0 months after initial pulmonary metastasectomy. Recurrent DFI was independently prognostic of DFS in patients who underwent repeated pulmonary metastasectomy.
Conclusion
There is a potential survival benefit for patients with metachronous PM from CRC who undergo pulmonary metastasectomy, even those with recurrent PM. Pulmonary metastasectomy should be considered in selected patients, particularly those with longer DFI, solitary lesions, and absence of mediastinal LN involvement.

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circEIF3I Promotes Colorectal Cancer Metastasis by Regulating the miR‐328‐3p/NCAPH Axis
Yali Zhao, Yan He, Zhiyuan Xiao, Le Xin, Mingjing Deng, Mingxia Yao, Guan Huang
Molecular Carcinogenesis.2025; 64(3): 450. CrossRef
Outcomes and prognostic factors of repeat pulmonary metastasectomy
Ryu Kanzaki, Hirokazu Watari, Akiisa Omura, Sachi Kawagishi, Ryo Tanaka, Tomohiro Maniwa, Jiro Okami
Interdisciplinary CardioVascular and Thoracic Surgery.2024;[Epub] CrossRef
Development of a protocol for whole-lung in vivo lung perfusion-assisted photodynamic therapy using a porcine model
Khaled Ramadan, Tina Saeidi, Edson Brambate, Vanderlei Bagnato, Marcelo Cypel, Lothar Lilge
Journal of Biomedical Optics.2024;[Epub] CrossRef
Role of Pulmonary Metastasectomy in Colorectal Cancer
Zamaan Hooda, Michael Eisenberg, Mara B. Antonoff
Thoracic Surgery Clinics.2024;[Epub] CrossRef
Preoperative prognostic factors for 5-year survival following pulmonary metastasectomy from colorectal cancer: a systematic review and meta-analysis
Andreas Gkikas, Christos Kakos, Savvas Lampridis, Peter J Godolphin, Davide Patrini
European Journal of Cardio-Thoracic Surgery.2023;[Epub] CrossRef
FUT2 inhibits the EMT and metastasis of colorectal cancer by increasing LRP1 fucosylation
Lingnan He, Zijun Guo, Weijun Wang, Shuxin Tian, Rong Lin
Cell Communication and Signaling.2023;[Epub] CrossRef
PET/MRI in colorectal and anal cancers: an update
Vetri Sudar Jayaprakasam, Semra Ince, Garima Suman, Pankaj Nepal, Thomas A. Hope, Raj Mohan Paspulati, Tyler J. Fraum
Abdominal Radiology.2023; 48(12): 3558. CrossRef
A review of surgery for lung metastasis from colorectal cancer
Yu-Kwang Lee, Mong-Wei Lin, Ke-Cheng Chen, Pei-Ming Huang, Shuenn-Wen Kuo, Jang-Ming Lee
Formosan Journal of Surgery.2023;[Epub] CrossRef
Long-term outcomes and early recurrence after resection for metachronous pulmonary metastases from colorectal cancer
Shintaro Hashimoto, Tetsuro Tominaga, Takashi Nonaka, Keisuke Noda, Soishiro Kiya, Toshio Shiraishi, Kaido Oishi, Yuma Takamura, Shoto Yamazaki, Masato Araki, Yorihisa Sumida, Takuro Miyazaki, Ryotaro Kamohara, Shigeyuki Morino, Keitaro Matsumoto, Akihiro
Langenbeck's Archives of Surgery.2023;[Epub] CrossRef
Survival and prognostic factors of isolated pulmonary metastases originating from colorectal cancer: An 8-year single-center experience
Ameera S. Balhareth, Abdullah S. AlQattan, Hassan M. Alshaqaq, Abdullah M. Alkhalifa, Alaa A. Al Abdrabalnabi, Muna S. Alnamlah, Deborah MacNamara
Annals of Medicine and Surgery.2022; 77: 103559. CrossRef
Long term survival after multiple microwave ablations for colorectal cancer lung metastases: A case report
Victoria T. Y Lee, Yueh-Hsin Lin, Derek Glenn, Suhrid Lodh, David L. Morris
Radiology Case Reports.2022; 17(6): 2038. CrossRef
A model to assess acute and delayed lung toxicity of oxaliplatin during in vivo lung perfusion
Khaled Ramadan, Bruno Gomes, Mauricio Pipkin, Mariola Olkowicz, Barbara Bojko, Arnaud Romeo Mbadjeu Hondjeu, Shaf Keshavjee, Thomas Waddell, Janusz Pawliszyn, Marcelo Cypel
The Journal of Thoracic and Cardiovascular Surgery.2021; 161(5): 1626. CrossRef
Prognostic value of KRAS mutation in patients undergoing pulmonary metastasectomy for colorectal cancer: A systematic review and meta-analysis
Junfeng Huang, Qing Zang, Yaokai Wen, Zhe Pan, Zhiyuan Yao, Mingkai Huang, Jiongqiang Huang, Jingsong Chen, Rongchang Wang
Critical Reviews in Oncology/Hematology.2021; 160: 103308. CrossRef
Systematic Review of Treatments for Colorectal Metastases in Elderly Patients to Guide Surveillance Cessation Following Hepatic Resection for Colorectal Liver Metastases
Edward Alabraba, Dhanny Gomez
American Journal of Clinical Oncology.2021; 44(5): 210. CrossRef
Determination of Optical Properties and Photodynamic Threshold of Lung Tissue for Treatment Planning of In Vivo Lung Perfusion Assisted Photodynamic Therapy
Khaled T. Ramadan, Christopher McFadden, Bruno Gomes, Fynn Schwiegelshohn, Rafaela V.P. Ribeiro, Harley H.L. Chan, Vaughn Betz, Marcelo Cypel, Lothar Lilge
Photodiagnosis and Photodynamic Therapy.2021; 35: 102353. CrossRef
Survival outcome of pulmonary metastasectomy among the patients with colorectal cancers
Oya Yıldız, Shute Ailia Dae, Alper Fındıkcıoglu, Fatih Kose
Revista da Associação Médica Brasileira.2021; 67(7): 1015. CrossRef
Circular RNA circHERC4 as a novel oncogenic driver to promote tumor metastasis via the miR-556-5p/CTBP2/E-cadherin axis in colorectal cancer
Jiehua He, Ziqiang Chu, Wei Lai, Qiusheng Lan, Yujie Zeng, Daning Lu, Shaowen Jin, Heyang Xu, Pengwei Su, Dong Yin, Zhonghua Chu, Lu Liu
Journal of Hematology & Oncology.2021;[Epub] CrossRef
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Mostafa Sarvizadeh, Faezeh Ghasemi, Fatemeh Tavakoli, Sara Sadat Khatami, Ebrahim Razi, Hossein Sharifi, Nousin Moussavi Biouki, Mohsen Taghizadeh
Journal of Cellular Biochemistry.2019; 120(6): 8815. CrossRef
Surgical management of colorectal lung metastases
Joseph D. Phillips, Rian M. Hasson
Journal of Surgical Oncology.2019; 119(5): 629. CrossRef
Chemotherapy for resected colorectal cancer pulmonary metastases: Utilization and outcomes in routine clinical practice
S. Karim, S. Nanji, K. Brennan, C.S. Pramesh, C.M. Booth
European Journal of Surgical Oncology (EJSO).2017; 43(8): 1481. CrossRef
The characteristics and outcomes of small bowel adenocarcinoma: a multicentre retrospective observational study
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British Journal of Cancer.2017; 117(11): 1607. CrossRef

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Prospective Study on the Incidence of Postoperative Venous Thromboembolism in Korean Patients with Colorectal Cancer: Eunyoung Lee, Sung-Bum Kang, Sang Il Choi, Eun Ju Chun, Min Jeong Kim, Duck-Woo Kim, Heung-Kwon Oh, Myong Hoon Ihn, Jin Won Kim, Soo-Mee Bang, Jeong-Ok Lee, Yu Jung Kim, Jee Hyun Kim, Jong Seok Lee, Keun-Wook Lee; Cancer Res Treat. 2016;48(3):978-989. Published online November 17, 2015; DOI: https://doi.org/10.4143/crt.2015.311

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Purpose
Pharmacologic thromboprophylaxis is routinely recommended for Western cancer patients undergoing major surgery for prevention of venous thromboembolism (VTE). However, it is uncertainwhetherroutine administration of pharmacologic thromboprophylaxis is necessary in all Asian surgical cancer patients. This prospective study was conducted to examine the incidence of and risk factors for postoperative VTE in Korean colorectal cancer (CRC) patients undergoing major abdominal surgery. Materials and Methods This study comprised two cohorts, and none of patients received perioperative pharmacologic thromboprophylaxis. In cohort A (n=400), patients were routinely screened for VTE using lower-extremity Doppler ultrasonography (DUS) on postoperative days 5-14. In cohort B (n=148), routine DUS was not performed, and imaging was only performed when there were symptoms or signs that were suspicious for VTE. The primary endpoint was the VTE incidence at 4 weeks postoperatively in cohort A.
Results
The postoperative incidence of VTE was 3.0% (n=12) in cohort A. Among the 12 patients, eight had distal calf vein thromboses and one had symptomatic thrombosis. Age ≥ 70 years (odds ratio [OR], 5.61), ≥ 2 comorbidities (OR, 13.42), and white blood cell counts of > 10,000/μL (OR, 17.43) were independent risk factors for postoperative VTE (p < 0.05). In cohort B, there was one case of VTE (0.7%). Conclusion The postoperative incidence of VTE, which included asymptomatic cases, was 3.0% in Korean CRC patients who did not receive pharmacologic thromboprophylaxis. Perioperative pharmacologic thromboprophylaxis should be administered to Asian CRC patients on a riskstratified basis.

Citations

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The 2024 Korean Enhanced Recovery After Surgery (ERAS) guidelines for colorectal cancer: a secondary publication
Kil-yong Lee, Soo Young Lee, Miyoung Choi, Moonjin Kim, Ji Hong Kim, Ju Myung Song, Seung Yoon Yang, In Jun Yang, Moon Suk Choi, Seung Rim Han, Eon Chul Han, Sang Hyun Hong, Do Joong Park, Sang-Jae Park
Annals of Coloproctology.2025; 41(1): 3. CrossRef
Circulating Blood Biomarkers and Risk of Venous Thromboembolism in Cancer Patients: A Systematic Review and Meta-Analysis
Danielle Carole Roy, Tzu-Fei Wang, Ronda Lun, Amin Zahrai, Ranjeeta Mallick, Dylan Burger, Gabriele Zitikyte, Steven Hawken, Philip Wells
Thrombosis and Haemostasis.2024; 124(12): 1117. CrossRef
Venous thromboembolism among Asian populations with localized colorectal cancer undergoing curative resection: is pharmacological thromboprophylaxis required? A systematic review and meta-analysis
Shih Jia Janice Tan, Emile Kwong-Wei Tan, Yvonne Ying Ru Ng, Rehena Sultana, John Carson Allen, Isaac Seow-En, Ronnie Mathew, Aik Yong Chok
Annals of Coloproctology.2024; 40(3): 200. CrossRef
The 2024 Korean Enhanced Recovery After Surgery guidelines for colorectal cancer
Kil-yong Lee, Soo Young Lee, Miyoung Choi, Moonjin Kim, Ji Hong Kim, Ju Myung Song, Seung Yoon Yang, In Jun Yang, Moon Suk Choi, Seung Rim Han, Eon Chul Han, Sang Hyun Hong, Do Joong Park, Sang-Jae Park
Annals of Clinical Nutrition and Metabolism.2024; 16(2): 22. CrossRef
Low prevalence of deep vein thrombosis among colorectal cancer patients undergoing surgery in Taiwan: A prospective cross-sectional study
Hsuan-Yu Lin, Ting-Ming Huang, Ching-Yeh Lin, Ming-Ching Shen
Asian Journal of Surgery.2023; 46(3): 1426. CrossRef
Clinical characteristics and disease course of splanchnic vein thrombosis in gastrointestinal cancers: A prospective cohort study
Minsu Kang, Koung Jin Suh, Ji-Won Kim, Ja Min Byun, Jin Won Kim, Ji Yun Lee, Jeong-Ok Lee, Soo-Mee Bang, Yu Jung Kim, Se Hyun Kim, Jee Hyun Kim, Jong Seok Lee, Keun-Wook Lee, Pal Bela Szecsi
PLOS ONE.2022; 17(1): e0261671. CrossRef
Application of venous thromboembolism prophylaxis program in patients with colorectal cancer using the enhanced recovery after surgery protocol
Hyung Jin Cho, In Kyu Lee, Yoon Suk Lee, Sang Seob Yun, Sun Cheol Park, Jang Yong Kim, Chul Seung Lee
European Journal of Surgical Oncology.2022; 48(6): 1384. CrossRef
Racial disparities in cancer-associated thrombosis
Tatini Datta, Ann Brunson, Anjlee Mahajan, Theresa Keegan, Ted Wun
Blood Advances.2022; 6(10): 3167. CrossRef
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Sarina L. Tschan, Daniel Bolliger
Current Anesthesiology Reports.2021; 11(4): 387. CrossRef
Perioperative Short Term Prophylaxis against Deep Vein Thrombosis after Major Abdominal Cancer Surgery: Retrospective Cohort Study
Nuray Colapkulu-Akgul, Ibrahim Ali Ozemir, Damla Beyazadam, Orhan Alimoglu
Vascular Specialist International.2021;[Epub] CrossRef
Venous Thromboembolism Prophylaxis and Treatment in Patients With Cancer: ASCO Clinical Practice Guideline Update
Nigel S. Key, Alok A. Khorana, Nicole M. Kuderer, Kari Bohlke, Agnes Y.Y. Lee, Juan I. Arcelus, Sandra L. Wong, Edward P. Balaban, Christopher R. Flowers, Charles W. Francis, Leigh E. Gates, Ajay K. Kakkar, Mark N. Levine, Howard A. Liebman, Margaret A. T
Journal of Clinical Oncology.2020; 38(5): 496. CrossRef
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Cecilia Becattini, Ugo Pace, Fabio Rondelli, Paolo Delrio, Graziano Ceccarelli, Michela Boncompagni, Luigina Graziosi, Adriana Visonà, Damiano Chiari, Giampiero Avruscio, Stefania Frasson, Gualberto Gussoni, Alessia Biancafarina, Giuseppe Camporese, Annib
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Hitomi Otsuka, Makoto Izumi, Eriko Ota, Noriaki Mochizuki
JA Clinical Reports.2020;[Epub] CrossRef
The impact of hereditary thrombophilia on the incidence of postoperative venous thromboembolism in colorectal cancer patients: a prospective cohort study
Jan Ulrych, Tomas Kvasnicka, Vladimir Fryba, Martin Komarc, Ivana Malikova, Radka Brzezkova, Jan Kvasnicka Jr, Zdenek Krska, Jan Briza, Jan Kvasnicka
European Surgery.2019; 51(1): 5. CrossRef
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Mao Li, Qiang Guo, Weiming Hu
Thrombosis Research.2019; 173: 48. CrossRef
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Joshua W. Hayes, Éanna J. Ryan, Patrick A. Boland, Ben Creavin, Michael E. Kelly, David Beddy
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Journal of Surgical Research.2016; 205(2): 279. CrossRef

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Validation of Prediction Models for Mismatch Repair Gene Mutations in Koreans: Soo Young Lee, Duck-Woo Kim, Young-Kyoung Shin, Myong Hoon Ihn, Sung Min Lee, Heung-Kwon Oh, Ja-Lok Ku, Seung-Yong Jeong, Jae Bong Lee, Soyeon Ahn, Sungho Won, Sung-Bum Kang; Cancer Res Treat. 2016;48(2):668-675. Published online June 5, 2015; DOI: https://doi.org/10.4143/crt.2014.288

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Purpose
Lynch syndrome, the commonest hereditary colorectal cancer syndrome, is caused by germline mutations in mismatch repair (MMR) genes. Three recently developed prediction models for MMR gene mutations based on family history and clinical features (MMRPredict, PREMM1,2,6, and MMRPro) have been validated only in Western countries. In this study, we propose validating these prediction models in the Korean population.
Materials and Methods
We collected MMR gene analysis data from 188 individuals in the Korean Hereditary Tumor Registry. The probability of gene mutation was calculated using three prediction models, and the overall diagnostic value of each model compared using receiver operator characteristic (ROC) curves and area under the ROC curve (AUC). Quantitative test characteristics were calculated at sensitivities of 90%, 95%, and 98%.
Results
Of the individuals analyzed, 101 satisfied Amsterdam criteria II, and 87 were suspected hereditary nonpolyposis colorectal cancer. MMR mutations were identified in 62 of the 188 subjects (33.0%). All three prediction models showed a poor predictive value of AUC (MMRPredict, 0.683; PREMM1,2,6, 0.709; MMRPro, 0.590). Within the range of acceptable sensitivity (> 90%), PREMM1,2,6 demonstrated higher specificity than the other models.
Conclusion
In the Korean population, overall predictive values of the three models (MMRPredict, PREMM1,2,6, MMRPro) for MMR gene mutations are poor, compared with their performance in Western populations. A new prediction model is therefore required for the Korean population to detect MMR mutation carriers, reflecting ethnic differences in genotype-phenotype associations.

Citations

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Performance evaluation of predictive models for detecting MMR gene mutations associated with Lynch syndrome in cancer patients in a Chinese cohort in Taiwan
Fei‐Hung Hung, Hung‐Pin Peng, Chen‐Fang Hung, Ling‐Ling Hsieh, An‐Suei Yang, Yong Alison Wang
International Journal of Cancer.2024; 155(12): 2201. CrossRef
Absence of constitutional MLH1 promoter methylation in Pakistani colorectal cancer patients
Ayesha Azeem, Humaira Naeemi, Noor Muhammad, Asif Loya, Muhammed Aasim Yusuf, Muhammad Usman Rashid
Gene Reports.2024; 36: 101995. CrossRef
Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients
Muhammad Usman Rashid, Humaira Naeemi, Noor Muhammad, Asif Loya, Jan Lubiński, Anna Jakubowska, Muhammed Aasim Yusuf
Hereditary Cancer in Clinical Practice.2019;[Epub] CrossRef
Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers
A. Goverde, M. C. W. Spaander, D. Nieboer, A. M. W. van den Ouweland, W. N. M. Dinjens, H. J. Dubbink, C. J. Tops, S. W. ten Broeke, M. J. Bruno, R. M. W. Hofstra, E. W. Steyerberg, A. Wagner
Familial Cancer.2018; 17(3): 361. CrossRef
Advances in Hereditary Colorectal and Pancreatic Cancers
Meghan L. Underhill, Katharine A. Germansky, Matthew B. Yurgelun
Clinical Therapeutics.2016;[Epub] CrossRef

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Clinicopathological Features and Type of Surgery for Lynch Syndrome: Changes during the Past Two Decades: Il Tae Son, Duck-Woo Kim, Seung-Yong Jeong, Young-Kyoung Shin, Myong Hoon Ihn, Heung-Kwon Oh, Sung-Bum Kang, Kyu Joo Park, Jae Hwan Oh, Ja-Lok Ku, Jae-Gahb Park; Cancer Res Treat. 2016;48(2):605-611. Published online May 26, 2015; DOI: https://doi.org/10.4143/crt.2015.092

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Purpose
The Korean Hereditary Tumor Registry, the first and one of the largest registries of hereditary tumors in Korea, has registered about 500 families with hereditary cancer syndromes. This study evaluates the temporal changes in clinicopathologic features and surgical patterns of Lynch syndrome (LS) patients.
Materials and Methods
Data on 182 unrelated LS patients were collected retrospectively. The patients were divided into the period 1 group (registered in 1990-2004) and 2 (registered in 2005-2014). The clinical characteristics of the two groups were compared to identify changes over time.
Results
The period 1 group included 76 patients; the period 2 group, 106 patients. The mean ages at diagnosis were 45.1 years (range, 13 to 85 years) for group 1 and 49.7 years (range, 20 to 84 years) for group 2 (p=0.015). The TNM stage at diagnosis did not differ significantly— period 1 group: stage 0-I (n=18, 23.7%), II (n=37, 48.7%), III (n=19, 25.0%), and IV (n=2, 2.6%); period 2 group: stage 0-I (n=30, 28.3%), II (n=35, 33.0%), III (n=37, 34.9%), and IV (n=4, 3.8%). Extended resection was more frequently performed (55/76, 72.4%) in the period 1 group than period 2 (49/106, 46.2%) (p=0.001).
Conclusion
Colorectal cancer in patients with LS registered at the Korean Hereditary Tumor Registry is still diagnosed at an advanced stage, more than two decades after registry’s establishment. Segmental resection was more frequently performed in the past decade. A prompt nationwide effort to raise public awareness of hereditary colorectal cancer and to support hereditary cancer registries is required in Korea.

Citations

Citations to this article as recorded by

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Experimental and Therapeutic Medicine.2018;[Epub] CrossRef

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