Article
Surgery
Jin Hee Noh, Eun Mi Song, Ji Yong Ahn, Dong-Hoon Yang, Woochang Lee, Jinyoung Hong, Aram Kim, Hee Kyong Na, Jeong Hoon Lee, Kee Wook Jung, Do Hoon Kim, Kee Don Choi, Ho June Song, Gin Hyug Lee, Hwoon-Yong Jung
Summary: Upper GI neoplasms are not rare in patients with familial adenomatous polyposis (FAP), with more than half of the patients having gastric adenoma, gastric cancer, nonampullary duodenal adenoma, or ampullary adenoma. Endoscopic treatment has shown positive outcomes in treating these neoplasms, reducing the severity of duodenal polyposis and improving long-term prognosis.
SURGICAL ENDOSCOPY AND OTHER INTERVENTIONAL TECHNIQUES
(2022)
Review
Biochemistry & Molecular Biology
Ilaria Ditonno, Domenico Novielli, Francesca Celiberto, Salvatore Rizzi, Maria Rendina, Enzo Ierardi, Alfredo Di Leo, Giuseppe Losurdo
Summary: Familial adenomatous polyposis (FAP) is a genetic syndrome characterized by the presence of multiple polyps in the gastrointestinal tract and various systemic extra-intestinal manifestations. The pathogenesis of FAP is associated with a loss of function mutation in the adenomatous polyposis coli (APC) gene and involves multiple mechanisms such as gut microbiota composition, immune microenvironment, inflammation, estrogen, and signaling pathways. Understanding these pathways can help develop targeted therapies and chemopreventive strategies to improve the quality of life for individuals and families affected by FAP.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, General & Internal
Maria Lourdes Garza-Rodriguez, Victor Trevino, Antonio Ali Perez-Maya, Hazyadee Frecia Rodriguez-Gutierrez, Moises Gonzalez-Escamilla, Miguel Angel Elizondo-Riojas, Genaro A. Ramirez-Correa, Oscar Vidal-Gutierrez, Carlos Horacio Burciaga-Flores, Diana Cristina Perez-Ibave
Summary: In this study, a novel pathogenic germline variant in the APC gene was identified using NGS. The variant was confirmed in multiple family members and associated with atypical clinical symptoms. This variant is classified as a PVS1 variant according to ACMG guidelines, providing evidence for early surveillance and suitable treatment in patients with the variant.
Article
Immunology
Celine Cuche, Marta Mastrogiovanni, Marie Juzans, Helene Laude, Marie-Noelle Ungeheuer, Daniel Krentzel, Maria Isabella Gariboldi, Daniel Scott-Algara, Marianne Madec, Sophie Goyard, Camille Floch, Gaelle Chauveau-Le Friec, Pierre Lafaye, Charlotte Renaudat, Muriel Le Bidan, Christine Micallef, Sandrine Schmutz, Sebastien Mella, Sophie Novault, Milena Hasan, Darragh Duffy, Vincenzo Di Bartolo, Andres Alcover
Summary: Familial adenomatous polyposis (FAP) is an inherited disease characterized by the development of colorectal adenomas with high risk of becoming colorectal tumors. Mutations of the Adenomatous polyposis coli (APC) gene are often responsible for FAP. Our recent study suggests that the APC protein is involved in multiple phases of T cell responses. We investigated immune cell abnormalities in FAP subjects and found dysfunctions in various immune cell populations, gene expressions, cytokine and chemokine productions, and T cell migration.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Medicine, General & Internal
Mayu Kobashi, Masaya Iwamuro, Sakiko Kuraoka, Shoko Inoo, Shotaro Okanoue, Takuya Satomi, Kenta Hamada, Makoto Abe, Yoshiyasu Kono, Hiromitsu Kanzaki, Seiji Kawano, Takehiro Tanaka, Yoshiro Kawahara, Hiroyuki Okada
Summary: This study investigated the phenotypic expression of gastric adenoma and gastric cancer in patients with FAP and their relationships to endoscopic findings. Gastric adenomas were classified into gastric, mixed, and intestinal phenotypes, while gastric cancers mainly showed intestinal and mixed phenotypes. Gastric cancers presented as reddish depressed lesions, while gastric adenomas exhibited elevated whitish lesions. These endoscopic features are crucial for the prompt diagnosis and appropriate management of gastric neoplasms in patients with FAP.
Article
Medical Laboratory Technology
Faranak Ghadamyari, Mohammad Mehdi Heidari, Sirous Zeinali, Mehri Khatami, Shahin Merat, Hamideh Bagherian, Leili Rejali, Farzaneh Ghasemi
Summary: This study conducted genetic screening of 59 FAP Iranian patients in 10 families to investigate APC gene mutations in FAP tumorigenesis. A total of 12 germline heterozygous and homozygous nucleotide variations were identified, including two missense mutations, four nonsense mutations, four synonymous variations, and two nucleotide deletions. The findings suggest potential biomarkers and provide insights into the role of the APC gene in FAP.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2021)
Article
Gastroenterology & Hepatology
Hyo Seon Ryu, Chang Sik Yu, Young Il Kim, Jong Lyul Lee, Chan Wook Kim, Yong Sik Yoon, In Ja Park, Seok-Byung Lim, Jin Cheon Kim
Summary: Pouch adenomas occur at a fairly high rate in FAP patients after restorative proctocolectomy, and a high colorectal polyp count is associated with pouch adenoma development.
WORLD JOURNAL OF GASTROENTEROLOGY
(2022)
Article
Genetics & Heredity
Worrawit Wanitsuwan, Sukanya Vijasika, Pichai Jirarattanasopa, Sukanya Horpaopan
Summary: A novel pathogenic variant in the APC gene was identified in Southern Thai FAP patients, leading to skipping of exon 10. Segregation study confirmed its inheritance pattern in affected family members across three generations. The phenotypic spectrum varied within the family, with some members exhibiting extracolonic manifestations.
BMC MEDICAL GENOMICS
(2021)
Article
Pathology
Zainab I. Alruwaii, Peter Chianchiano, Tatianna Larman, Alexander Wilentz, Laura D. Wood, Elizabeth A. Montgomery
Summary: Familial adenomatous polyposis (FAP) is a hereditary cancer predisposition syndrome with gastrointestinal polyps. This study found that FAP-associated TSAs in the small bowel are usually asymptomatic and smaller compared to sporadic TSAs, with similar morphology. The study also suggests that the BRAF-serrated pathway does not contribute to the pathogenesis of these adenomas.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2021)
Article
Gastroenterology & Hepatology
Robert Naples, Robert Simon, Maitham Moslim, Toms Augustin, James Church, Carol A. Burke, Amit Bhatt, Matthew Kalady, R. Matthew Walsh
Summary: Pancreas-sparing duodenectomy (PSD) for duodenal polyposis in FAP patients can be performed with a low risk of long-term morbidity, but lifelong endoscopic surveillance is necessary due to rare occurrence of gastric and jejunal carcinoma, typically diagnosed decades after surgery.
JOURNAL OF GASTROINTESTINAL SURGERY
(2021)
Article
Gastroenterology & Hepatology
Ufuk Uylas, Ramazan Gundogdu, Fatih Sumer, Emine Samdanci, Cuneyt Kayaalp
Summary: This study retrospectively reviewed the files of FAP patients who underwent prophylactic colectomy between 2010 and 2020 to determine the incidence of incidental malignancy. The results showed that 48% of patients had benign specimens, 44% had carcinoma in situ, and 8% had incidental malignancy. In the literature review, 10.3% of patients who underwent prophylactic colectomy were found to have incidental cancer, with stages 1, 2, and 3 accounting for 7.4%, 2.1%, and 0.8%, respectively.
INTERNATIONAL JOURNAL OF COLORECTAL DISEASE
(2023)
Article
Oncology
Miaorong Xu, Yuyan Zheng, Zhongchao Zuo, Qin Zhou, Qun Deng, Jianwei Wang, Da Wang
Summary: This case report presents a 20-year-old female with familial adenomatous polyposis (FAP) who initially presented with thyroid cancer and later developed colon cancer liver metastases. Genetic testing revealed a novel mutation in the APC gene. The mutation may contribute to the pathogenesis of the disease through beta-catenin accumulation, cell cycle microtubule dysregulation, and tumor suppressor inactivation.
WORLD JOURNAL OF SURGICAL ONCOLOGY
(2023)
Article
Gastroenterology & Hepatology
N. Jewel Samadder, Ryan P. McMurray, Priyanka Kanth, Michael Sossenheimer, Michelle Westover, Luz M. Rodriguez, David Zahrieh, Nathan Foster, Carol A. Burke, Elena Stoffel, Rohit Das, Marcia Cruz-Correa, E. Vilar, Gautam Mankaney, Navtej Buttar, Selvi Thirumurthi, Danielle K. Turgeon, Ellen Richmond, Asad Umar, Gary Della'Zanna, Eva Szabo, Paul J. Limburg
Summary: In this study, the efficacy and adverse effects of once weekly erlotinib intervention were evaluated in patients with FAP. The results showed that once weekly erlotinib intervention significantly reduced duodenal polyp burden and moderately reduced lower gastrointestinal polyp burden. Although adverse effects still occurred, most events were low-grade and well-tolerated.
Article
Gastroenterology & Hepatology
John Gasdal Karstensen, Steffen Bulow, Helle Hojen, Anne Marie Jelsig, Niels Jespersen, Klaus Kaae Andersen, Mads Damsgaard Wewer, Johan Burisch, Hans Christian Pommergaard
Summary: This study found that patients with familial adenomatous polyposis (FAP) have a significantly higher risk of developing cancer compared to controls, mainly due to increased risks of colorectal, pancreatic, and duodenal/small-bowel cancers. Additionally, the risk of developing a second primary cancer is also significantly higher for FAP patients.
Article
Genetics & Heredity
Martin R. Graf, Shruti Apte, Esteban Terzo, Simran Padhye, Shuhao Shi, Megan K. Cox, Roger B. Clark, Vijay Modur, Vasudeo Badarinarayana
Summary: Familial adenomatous polyposis (FAP) is a colorectal disease caused by mutations in the APC gene, leading to the growth of adenomatous polyps. The novel macrolide, ZKN-0013, has been shown to restore the function of the APC protein and inhibit the beta-catenin/wnt-pathway in human colon carcinoma cells and a mouse model of FAP. Treatment with ZKN-0013 reduced the number of intestinal polyps, adenomas, anemia, and improved survival.
JOURNAL OF MOLECULAR MEDICINE-JMM
(2023)
Article
Oncology
Masaya Yotsukura, Yuji Muraoka, Yukihiro Yoshida, Kazuo Nakagawa, Kouya Shiraishi, Takashi Kohno, Yasushi Yatabe, Shun-ichi Watanabe
Summary: This study found that the prognosis and survival of lung cancer patients after 5 years of surgery were associated with age rather than stage classification. It suggests that the long-term follow-up strategy does not need to be modified based on stage classification, and screening for secondary primary lung cancer should be considered.
ANNALS OF SURGICAL ONCOLOGY
(2023)
Letter
Pathology
Tomoaki Naka, Taiki Hashimoto, Teruhiko Yoshida, Yasushi Yatabe, Shigeki Sekine
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2023)
Editorial Material
Oncology
Masaya Yotsukura, Yuji Muraoka, Yukihiro Yoshida, Kazuo Nakagawa, Kouya Shiraishi, Takashi Kohno, Yasushi Yatabe, Shun-ichi Watanabe
ANNALS OF SURGICAL ONCOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Takaki Akamine, Masaya Yotsukura, Yukihiro Yoshida, Kazuo Nakagawa, Yasushi Yatabe, Shun-ichi Watanabe
Summary: In this study, we found that segmentectomy is a feasible procedure with comparable safety outcomes and better surgical margins and cancer control than wedge resection, particularly for clinical stage IA2 NSCLC. Segmentectomy significantly improved the recurrence-free survival compared with wedge resection, especially for patients with clinical stage IA. Subgroup analysis also demonstrated that segmentectomy had better recurrence-free survival in clinical stage IA2 and pure-solid tumors compared to wedge resection.
EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY
(2023)
Article
Hematology
Takanori Fukuta, Takashi Tanaka, Taiki Hashimoto, Kenji Isahaya, Yuko Kubo, Yoshihisa Yamano, Kaishi Satomi, Nobuyoshi Hiraoka, Nami Shirakawa, Ayumu Arakawa, Chitose Ogawa, Nao Nishimura, Jun Aoki, Ayumu Ito, Yoshihiro Inamoto, Sung-Won Kim, Takahiro Fukuda
Summary: Nelarabine is an effective treatment for T-cell acute lymphoblastic leukemia/lymphoma, but myelopathy is a rare but serious adverse event associated with this drug. This study reported three cases of myelopathy in patients who received nelarabine, and despite treatment, two patients died. These cases revealed the pathophysiological features of nelarabine-induced myelopathy and suggested that allogeneic hematopoietic cell transplantation may worsen the condition.
INTERNATIONAL JOURNAL OF HEMATOLOGY
(2023)
Article
Medicine, General & Internal
Hidenori Suzuki, Gaku Takano, Satoshi Tsukushi, Masashi Ando, Yasushi Yatabe, Takeshi Kodaira, Daisuke Nishikawa, Shintaro Beppu, Yasuhisa Hasegawa, Nobuhiro Hanai
Summary: The present study aimed to investigate the relationship between age at surgery and survival outcomes in patients with sarcoma in the head and neck. A total of 26 patients who underwent surgery for head and neck sarcoma from 2003 to 2017 were included. Patients who did not receive chemotherapy were significantly older at the time of surgery. Receiver operating curve analysis determined 55 years as the cutoff age for predicting death. Older age was associated with shorter overall, disease-specific, local recurrence-free, and disease-free survival rates. Multivariate analysis using Cox's proportional hazards model adjusted for chemotherapy (absence/presence) showed that age (>= 55 years/<55 years) was correlated with shorter overall survival. In conclusion, older age predicts worse overall survival in patients with head and neck sarcoma.
Article
Pathology
Hirotake Fujii, Yosuke Yamada, Kentaro Yamamura, Yoshihiro Ishida, Marina Tsujimura, Kazuhisa Matsumoto, Satona Tanaka, Hiroshi Date, Tadaaki Nishikawa, Yukihiro Yoshida, Jumpei Kashima, Yasushi Yatabe, Seishi Ogawa, Alexander Marx, Thomas M. Ulbright, Hironori Haga
Summary: VMT is a new type of tumor that occurs in mediastinal germ cell tumors after chemotherapy, characterized by abnormal vessels. Patients with VMT in residual tumors have an increased risk of developing sarcomas or hematopoietic malignancies.
Article
Multidisciplinary Sciences
Takahiko Ito, Daisuke Takayanagi, Shigeki Sekine, Taiki Hashimoto, Yoko Shimada, Maiko Matsuda, Masayoshi Yamada, Ryuji Hamamoto, Tomoyasu Kato, Dai Shida, Yukihide Kanemitsu, Narikazu Boku, Takashi Kohno, Atsuo Takashima, Kouya Shiraishi
Summary: This study compared the genetic backgrounds and clinical outcomes of Japanese and Caucasian patients with ASCC. Among 41 ASCC patients, 34 were HPV-positive and 38 were p16-positive. p16-positive patients showed better response to CCRT. The mutation profiles of ASCC were similar between Japanese and Caucasian patients, with HPV 16 genotype and PIK3CA mutations being common regardless of ethnicity. The p16 status of Japanese patients with ASCC may serve as a prognostic biomarker for CCRT.
SCIENTIFIC REPORTS
(2023)
Review
Oncology
Tony Kiat Hon Lim, Ferdinandos Skoulidis, Keith M. Kerr, Myung-Ju Ahn, Joshua R. Kapp, Fernando A. Soares, Yasushi Yatabe
Summary: KRAS is the most commonly mutated oncogene in advanced NSCLC, and the approval of KRAS G12C-selective inhibitors has made it a druggable target. Real-world evidence shows geographic differences in KRAS G12C prevalence, and co-mutations with other genes are also common. Testing and reporting of KRAS G12C should be included in routine biomarker testing before first-line therapy.
Article
Gastroenterology & Hepatology
Tsutomu Hayashi, Ken Takasawa, Takaki Yoshikawa, Taiki Hashimoto, Shigeki Sekine, Takeyuki Wada, Yukinori Yamagata, Haruhisa Suzuki, Seiichirou Abe, Shigetaka Yoshinaga, Yutaka Saito, Nobuji Kouno, Ryuji Hamamoto
Summary: This study developed a discrimination model using machine learning to select patients with early gastric cancer who do not require surgery. Data from 382 patients who received gastrectomy and 140 patients who underwent endoscopic resection followed by gastrectomy were used to develop and validate the model. The discrimination model accurately identified patients with no risk of lymph node metastasis, providing valuable information for clinical decision-making.
ANNALS OF GASTROENTEROLOGICAL SURGERY
(2023)
Article
Cardiac & Cardiovascular Systems
Takaki Akamine, Kazuo Nakagawa, Kimiteru Ito, Hirokazu Watanabe, Masaya Yotsukura, Yukihiro Yoshida, Yasushi Yatabe, Masahiko Kusumoto, Shun-Ichi Watanabe
Summary: We evaluated the potential of preoperative fluorine-18-fluorodeoxyglucose positron emission tomography to predict invasive thymic epithelial tumours in patients with computed tomography-defined clinical stage I thymic epithelial tumours <5 cm in size who are generally considered to be candidates for minimally invasive approaches.
INTERDISCIPLINARY CARDIOVASCULAR AND THORACIC SURGERY
(2023)
Review
Cell Biology
Keith M. Kerr, Lukas Bubendorf, Fernando Lopez-Rios, Farah Khalil, Sinchita Roy-Chowdhuri, Philippe Joubert, Arndt Hartmann, Elena Guerini-Rocco, Yasushi Yatabe, Paul Hofman, Wendy A. Cooper, Sanja Dacic
Summary: Many patients with non-small cell lung cancer do not receive guideline-recommended, biomarker-directed therapy. Optimized tissue management is crucial for the protection and utilization of limited tissue resources, enabling accurate molecular profiling and treatment selection.
Review
Oncology
Shinkichi Takamori, Yasushi Yatabe, Atsushi Osoegawa, Keiju Aokage, Hiroshige Yoshioka, Tomohiro Miyoshi, Takahiro Mimae, Makoto Endo, Aritoshi Hattori, Masaya Yotsukura, Tetsuya Isaka, Mitsuhiro Isaka, Tomohiro Maniwa, Ryu Nakajima, Shun-ichi Watanabe, Lung Canc Surgical Study Grp LCSSG, Japan Clinical Oncology Grp JCOG
Summary: Salivary gland-type lung tumors (SGT), primarily mucoepidermoid carcinoma and adenoid cystic carcinoma, are rare and present with symptoms of bronchial obstruction. Surgical resection with lymphadenectomy is recommended, and radiation therapy varies by subtype. The diagnosis and treatment of SGT remain challenging.
JAPANESE JOURNAL OF CLINICAL ONCOLOGY
(2023)
Review
Cell Biology
Yasushi Yatabe
Summary: Currently, lung cancer treatment involves multiple therapeutic options, including molecular-targeted therapy and immune check-point inhibitors. The efficacy of these treatments varies based on the molecular pathogenesis of lung cancer and the characteristics of different subtypes.