Letter
Surgery
Bing Deng, Chunguang Liu
Summary: This article presents a case of VHL disease with negative VHL variant detected through peripheral blood DNA analysis, suggesting the possibility of somatic mosaicism.
ASIAN JOURNAL OF SURGERY
(2023)
Article
Oncology
Dali Tong, Yao Zhang, Jun Jiang, Gang Bi
Summary: This study diagnosed a rare atypical VHL syndrome using CT scan, pathological and genetic examination methods. The patient had a confirmed VHL mutation associated with bilateral pheochromocytoma, lung carcinoid, and pancreatic neuroendocrine tumor. Based on literature reviews, octreotide-based radionuclide therapy was recommended for the patient, highlighting the relationship between VHL genotype and phenotype.
CANCER CELL INTERNATIONAL
(2021)
Article
Oncology
Wendy P. G. Wolters, Koen M. A. Dreijerink, Rachel H. Giles, Anouk N. A. van der Horst-Schrivers, Bernadette van Nesselrooij, Wouter T. Zandee, Henri J. L. M. Timmers, Tatjana Seute, Wouter W. de Herder, Annemarie A. Verrijn Stuart, Emine Kilic, Willem M. Brinkman, Patricia J. Zondervan, W. Peter Vandertop, Anthony B. Daniels, Tijmen Wolbers, Thera P. Links, Rachel S. van Leeuwaarde
Summary: This article aims to establish a multidisciplinary integrated care pathway for individuals with von Hippel-Lindau (VHL) disease. Through a modified Delphi consensus-making process, a panel of experts developed a comprehensive care pathway for VHL patients, which can be implemented in specialized clinics or nonacademic treatment clinics.
Article
Ophthalmology
Michael Reich, Sabine Jaegle, Elke Neumann-Haefelin, Jan-Helge Klingler, Charlotte Evers, Moritz Daniel, Felicitas Bucher, Franziska Ludwig, Simone Nuessle, Julia Kopp, Daniel Boehringer, Thomas Reinhard, Wolf A. Lagreze, Clemens Lange, Hansjuergen Agostini, Stefan J. Lang
Summary: This study found that the onset age and incidence of HR, CNSH, ccRCC, and PNEN in VHL patients are closely related to the type of genetic mutation, with patients with TV mutations showing higher incidence rates and earlier onset ages compared to those with AASD mutations, indicating a need for closer ophthalmological monitoring.
ACTA OPHTHALMOLOGICA
(2021)
Article
Biochemistry & Molecular Biology
Adam Serghini, Stephanie Portelli, Guillaume Troadec, Catherine Song, Qisheng Pan, Douglas E. Pires, David B. Ascher
Summary: This study manually curated VHL gene mutations and used biophysical tools to characterize their effects, constructing a machine learning model to predict the risk of ccRCC development caused by VHL missense mutations. The results showed that the model accurately identified ccRCC-causing missense mutations and had a significant improvement compared to previous approaches.
HUMAN MOLECULAR GENETICS
(2023)
Article
Oncology
Elysa Bond, Beverly Yashar, Tobias Else, Jenae Osborne, Monica Marvin
Summary: Individuals with genetic disease, especially von Hippel-Lindau disease (VHL), face unique challenges in dating relationships. This study explores young adults' attitudes towards dating and decisions related to disclosing a diagnosis of VHL to a dating partner. The results show that genetic disease decreases desirability and partners' unfamiliarity with VHL exacerbates this concern. However, disclosing the diagnosis can strengthen relationships by deepening trust. This highlights the importance of patient-centered support from healthcare providers and patient organizations.
Review
Oncology
Yikeng Huang, Weiwen Hu, Xionggao Huang
Summary: This article describes a rare case of VHL-associated RH with retinal detachment, highlighting the effectiveness of laser photocoagulation and vitreoretinal surgery in visual recovery and providing a new perspective on diagnosis and treatment for this disease. Early detection of lesions, timely follow-up, and appropriate treatment are crucial for managing RH.
FRONTIERS IN ONCOLOGY
(2022)
Review
Oncology
Bo Yang, Zhenyu Li, Yubo Wang, Chaoling Zhang, Zhen Zhang, Xianfeng Zhang
Summary: This study described a rare case of a pediatric patient with VHL disease and optic nerve HGB, exploring the genotype-phenotype correlation, clinical features, treatment, and follow-up of VHL-associated hemangioblastomas in pediatric patients.
FRONTIERS IN ONCOLOGY
(2021)
Article
Clinical Neurology
Leonille Schweizer, Felix Thierfelder, Christian Thomas, Patrick Soschinski, Hee-Yeong Kim, Ruben Joedicke, Niklas Woltering, Alexandra Foerster, Daniel Teichmann, Christin Siewert, Katharina Klein, Simone Schmid, Maximilian Nunninger, Ulrich-Wilhelm Thomale, Julia Onken, Helmut Muehleisen, Jens Schittenhelm, Marcos Tatagiba, Andreas von Deimling, David E. Reuss, David A. Solomon, Frank L. Heppner, Arend Koch, Christian Hartmann, Ori Staszewski, David Capper
Summary: The study revealed a high prevalence of VHL mutations in sporadic ELSTs, with differences in age, genetic mechanisms, and survival rates between VHL-disease-related tumors and sporadic ELSTs.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2021)
Article
Oncology
Shachar Laks, Rachel van Leeuwaarde, Dhaval Patel, Xavier M. Keutgen, Pascal Hammel, Naris Nilubol, Thera P. Links, Thorvardur R. Halfdanarson, Anthony B. Daniels, Amit Tirosh
Summary: This report summarizes the discussion and recommendations by a group of experts on the pancreatic manifestations of Von Hippel-Lindau disease (VHL). The recommendations were based on a comprehensive systematic review of the literature and panel discussions, providing guidance on clinical surveillance and management of VHL-related pancreatic manifestations.
Article
Clinical Neurology
Jorge Cabrera-Montes, Daniel T. Aguirre, Jesus Vinas-Lopez, Laura Lorente-Herraiz, Lucia Recio-Poveda, Virginia Albinana, Julian Perez-Perez, Luisa M. Botella, Angel M. Cuesta
Summary: This case report illustrates the importance of deeper genetic analyses in inherited rare diseases, by presenting the case of a VHL patient with severe manifestations. The analysis revealed pathogenic mutations in CHEK2 and the loss of a VHL allele, as well as additional mutations in BRAF1 and PTPN11 in the tumor sample. The study concludes that the severity of VHL in this patient is attributed to both VHL and CHEK2 mutations.
ACTA NEUROCHIRURGICA
(2023)
Article
Genetics & Heredity
Tabatha Nakakogue Dallagnol, Eduardo Da Cas, Odery Ramos Junior, Jose Claudio Casali-da-Rocha
Summary: This study established the largest VHL registry in Brazil, collecting clinical and genetic data from VHL families, which will help guide VHL care and oncogenetics policies in Brazil. Despite improvements in diagnosis and clinical screening methods, VHL care in Brazil is still deficient, especially regarding surveillance and regular medical appointments with experts.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Medical Laboratory Technology
Sun Joo Yoon, Won Kyung Kwon, Geehay Hong, Ja-Hyun Jang, Byong Chang Jeong, Jae Hyeon Kim, Jong-Won Kim
Summary: This study evaluated the effectiveness and practicality of using a multidisciplinary team in a VHL clinic for the first time in Korea. The results showed that the clinic strategy was useful for comprehensive surveillance and management of VHL disease, and emphasized the need for widespread implementation of VHL clinics in hospitals to improve patient prognosis.
ANNALS OF LABORATORY MEDICINE
(2022)
Article
Genetics & Heredity
Francesco Paduano, Fernanda Fabiani, Emma Colao, Francesco Trapasso, Nicola Perrotti, Vito Barbieri, Francesco Baudi, Rodolfo Iuliano
Summary: Li-Fraumeni syndrome is an inherited autosomal dominant disease associated with a predisposition to multiple cancers. A novel heterozygous frameshift variant in the TP53 gene was identified in a proband with liver carcinoma, indicating a pathogenic role of this previously undescribed variant in typical LFS cancers.
FRONTIERS IN GENETICS
(2021)
Review
Oncology
Valentina Rocca, Giovanni Blandino, Lucia D'Antona, Rodolfo Iuliano, Silvia Di Agostino
Summary: Li-Fraumeni Syndrome (LFS) is a rare familial tumor predisposition syndrome caused by mutations in the TP53 gene. Patients with LFS are at risk of developing various types of tumors. This review explores the novel mechanisms of tumor onset in LFS and discusses potential treatment approaches.
Article
Medicine, General & Internal
Leila Dorling, Sara Carvalho, Jamie Allen, Anna Gonzalez-Neira, Craig Luccarini, Cecilia Wahlstrom, Karen A. Pooley, Michael T. Parsons, Cristina Fortuno, Qin Wang, Manjeet K. Bolla, Joe Dennis, Renske Keeman, M. Rosario Alonso, Nuria Alvarez, Belen Herraez, Victoria Fernandez, Rocio Nunez-Torres, Ana Osorio, Jeanette Valcich, Minerva Li, Therese Torngren, Patricia A. Harrington, Caroline Baynes, Don M. Conroy, Brennan Decker, Laura Fachal, Nasim Mavaddat, Thomas Ahearn, Kristiina Aittomaki, Natalia N. Antonenkova, Norbert Arnold, Patrick Arveux, Margreet G. E. M. Ausems, Paivi Auvinen, Heiko Becher, Matthias W. Beckmann, Sabine Behrens, Marina Bermisheva, Katarzyna Bialkowska, Carl Blomqvist, Natalia V. Bogdanova, Nadja Bogdanova-Markov, Stig E. Bojesen, Bernardo Bonanni, Anne-Lise Borresen-Dale, Hiltrud Brauch, Michael Bremer, Ignacio Briceno, Thomas Bruning, Barbara Burwinkel, David A. Cameron, Nicola J. Camp, Archie Campbell, Angel Carracedo, Jose E. Castelao, Melissa H. Cessna, Stephen J. Chanock, Hans Christiansen, J. Margriet Collee, Emilie Cordina-Duverger, Sten Cornelissen, Kamila Czene, Thilo Doerk, Arif B. Ekici, Christoph Engel, Mikael Eriksson, Peter A. Fasching, Jonine Figueroa, Henrik Flyger, Asta Foersti, Marike Gabrielson, Manuela Gago-Dominguez, Vassilios Georgoulias, Fabian Gil, Graham G. Giles, Gord Glendon, Encarna B. Gomez Garcia, Grethe I. Grenaker Alnaes, Pascal Guenel, Andreas Hadjisavvas, Lothar Haeberle, Eric Hahnen, Per Hall, Ute Hamann, Elaine F. Harkness, Jaana M. Hartikainen, Mikael Hartman, Wei He, Bernadette A. M. Heemskerk-Gerritsen, Peter Hillemanns, Frans B. L. Hogervorst, Antoinette Hollestelle, Weang Kee Ho, Maartje J. Hooning, Anthony Howell, Keith Humphreys, Faiza Idris, Anna Jakubowska, Audrey Jung, Pooja Middha Kapoor, Michael J. Kerin, Elza Khusnutdinova, Sung-Won Kim, Yon-Dschun Ko, Veli-Matti Kosma, Vessela N. Kristensen, Kyriacos Kyriacou, Inge M. M. Lakeman, Jong Won Lee, Min Hyuk Lee, Jingmei Li, Annika Lindblom, Wing-Yee Lo, Maria A. Loizidou, Artitaya Lophatananon, Jan Lubinski, Robert J. MacInnis, Michael J. Madsen, Arto Mannermaa, Mehdi Manoochehri, Siranoush Manoukian, Sara Margolin, Maria Elena Martinez, Tabea Maurer, Dimitrios Mavroudis, Catriona McLean, Alfons Meindl, Arjen R. Mensenkamp, Kyriaki Michailidou, Nicola Miller, Nur Aishah Mohd Taib, Kenneth Muir, Anna Marie Mulligan, Heli Nevanlinna, William G. Newman, Borge G. Nordestgaard, Pei-Sze Ng, Jan C. Oosterwijk, Sue K. Park, Tjoung-Won Park-Simon, Jose I. A. Perez, Paolo Peterlongo, David J. Porteous, Karolina Prajzendanc, Darya Prokofyeva, Paolo Radice, Muhammad U. Rashid, Valerie Rhenius, Matti A. Rookus, Thomas Rudiger, Emmanouil Saloustros, Elinor J. Sawyer, Rita K. Schmutzler, Andreas Schneeweiss, Peter Schurmann, Mitul Shah, Christof Sohn, Melissa C. Southey, Harald Surowy, Maija Suvanto, Somchai Thanasitthichai, Ian Tomlinson, Diana Torres, Therese Truong, Maria Tzardi, Yana Valova, Christi J. van Asperen, Rob M. Van Dam, Ans M. W. van den Ouweland, Lizet E. van der Kolk, Elke M. van Veen, Camilla Wendt, Justin A. Williams, Xiaohong R. Yang, Sook-Yee Yoon, M. Pilar Zamora, D. Gareth Evans, Miguel de la Hoya, Jacques Simard, Antonis C. Antoniou, Ake Borg, Irene L. Andrulis, Jenny Chang-Claude, Montserrat Garcia-Closas, Georgia Chenevix-Trench, Roger L. Milne, Paul D. P. Pharoah, Marjanka K. Schmidt, Amanda B. Spurdle, Maaike P. G. Vreeswijk, Javier Benitez, Alison M. Dunning, Anders Kvist, Soo H. Teo, Peter Devilee, Douglas F. Easton
Summary: This study sequenced samples from 60,466 women with breast cancer and 53,461 controls using a panel of 34 putative susceptibility genes, identifying associations between protein-truncating variants in certain genes and breast cancer risk. The results provide important information for genetic counseling and define genes that are most clinically useful for predicting breast cancer risk.
NEW ENGLAND JOURNAL OF MEDICINE
(2021)
Article
Oncology
Fadwa A. Elsayed, Carli M. J. Tops, Maartje Nielsen, Hans Morreau, Frederik J. Hes, Tom van Wezel
Summary: This study did not find an impact of deep intronic APC variants and mosaicism on colorectal polyposis in the Dutch population. Additionally, next-generation sequencing did not detect any further mosaic variants in the cohort.
Article
Obstetrics & Gynecology
A. Van der Kelen, S. Santos-Ribeiro, A. De Vos, P. Verdyck, M. De Rycke, V Berckmoes, H. Tournaye, C. Blockeel, M. De Vos, F. J. Hes, K. Keymolen, W. Verpoest
Summary: The success rate of a single cycle of preimplantation genetic testing for monogenic disorders (PGT-M) is significantly influenced by female age, the number of oocytes, and the dose of ovarian stimulation. At least two retrieved oocytes or one embryo per single PGT-M cycle could confer an estimated CLBR above 10%.
HUMAN REPRODUCTION
(2021)
Article
Oncology
Mark A. Jenkins
Summary: The study identified significant familial risk factors affecting colorectal cancer risk for Lynch syndrome carriers, resulting in a wide variation in risk between carriers of the same gene. This highlights the importance of personalized risk assessments for precision prevention and early detection of colorectal cancer in individuals with Lynch syndrome.
Letter
Gastroenterology & Hepatology
Diantha Terlouw, Frederik J. Hes, Manon Suerink, Arnoud Boot, Alexandra M. J. Langers, Carli M. Tops, Monique E. van Leerdam, Christi J. van Asperen, Steve G. Rozen, Emilia K. Bijlsma, Tom van Wezel, Hans Morreau, Maartje Nielsen
Article
Biochemistry & Molecular Biology
Saar van Pottelberghe, Fenja Heine, Sonia Van Dooren, Frederik Hes, Nina Kupper
Summary: Current clinical practice for inherited cardiac conditions is biomedical-focused and lacks psychological and social expertise. This study examines barriers and facilitators of patient-centered care (PCC) in cardiogenetics and contrasts stakeholder viewpoints. The results show a blind spot for the patient perspective as the most important barrier, while lack of multidisciplinary communication is ranked lowest. Additionally, this study reveals several facilitators, including improving workflow, increasing multidisciplinarity, and enhancing patient communication.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Review
Obstetrics & Gynecology
Annelore Van Der Kelen, Ozlem Okutman, Elodie Javey, Munevver Serdarogullari, Charlotte Janssens, Manjusha S. Ghosh, Bart J. H. Dequeker, Florence Perold, Claire Kastner, Emmanuelle Kieffer, Ingrid Segers, Alexander Gheldof, Frederik J. Hes, Karen Sermon, Willem Verpoest, Stephane Viville
Summary: High-throughput sequencing methods have led to the identification of numerous gene variants in male and female infertility. Evidence-based curation of these genes can improve diagnostic performance and genetic research.
HUMAN REPRODUCTION UPDATE
(2023)
Article
Obstetrics & Gynecology
Florence Belva, Christophe Blockeel, Kathelijn Keymolen, Andrea Buysse, Maryse Bonduelle, Greta Verheyen, Mathieu Roelants, Herman Tournaye, Frederik Hes, Lisbet Van Landuyt
Summary: This study aimed to evaluate the health outcomes of children born after embryo vitrification compared to children born after fresh embryo transfer. The results showed that children born after embryo vitrification had higher birthweight, height, and head circumference than children born after fresh embryo transfer. However, there were no significant differences in growth and weight gain between the two groups during infancy and early childhood.
FERTILITY AND STERILITY
(2023)
Review
Medicine, General & Internal
Sofie Ryckx, Jean De Schepper, Philippe Giron, Ken Maes, Freya Vaeyens, Kaat Wilgenhof, Pierre Lefesvre, Caroline Ernst, Kim Vanderlinden, Daniel Klink, Frederik Hes, Jesse Vanbesien, Inge Gies, Willem Staels
Summary: We present a case of a 2.5-year-old boy with a pure androgen-secreting adrenocortical tumor, characterized by penile enlargement, pubic hair, frequent erections, and rapid linear growth. The diagnosis was confirmed through laboratory tests, medical imaging, and histology. Additionally, genetic testing revealed a pathogenic germline variant in the TP53 gene, confirming an underlying Li-Fraumeni syndrome.
JOURNAL OF MEDICAL CASE REPORTS
(2023)
Article
Endocrinology & Metabolism
Florence Belva, Fiskani Kondowe, Anick De Vos, Kathelijn Keymolen, Andrea Buysse, Frederik Hes, Veerle Berckmoes, Pieter Verdyck, Willem Verpoest, Martine De Rycke
Summary: This study found that embryo biopsy (EBD3 or EBD5) followed by fresh or frozen-thawed embryo transfer did not have a negative impact on anthropometry and health outcomes up to 2 years of age.
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY
(2023)
Meeting Abstract
Cardiac & Cardiovascular Systems
Sarah Van Pottelberghe, Nina Kupper, Esther Scheirlynck, A. S. Amin, Edward Callus, Ruth Biller, Nynke Hofman, Julie Nekkebroeck, Sonia Van Dooren, Frederik Hes, Arthur A. Wilde, Saskia van der Crabben
Meeting Abstract
Obstetrics & Gynecology
F. Belva, C. Blockeel, M. Roelants, K. Keymolen, A. Buysse, G. Verheyen, H. Tournaye, F. Hes, L. Van Landuyt
HUMAN REPRODUCTION
(2022)
Article
Obstetrics & Gynecology
Van Reckem Marjan, Blockeel Christophe, Bonduelle Maryse, Buysse Andrea, Roelants Mathieu, Verheyen Greta, Tournaye Herman, Hes Frederik, Belva Florence
Summary: This study indicates that oocyte vitrification does not have adverse effects on the growth and health of offspring beyond the neonatal period, providing the first evidence on this matter. However, the limited data and small sample size in the study still prevent definitive conclusions from being drawn.
HUMAN REPRODUCTION OPEN
(2021)
Correction
Obstetrics & Gynecology
Marjan Van Reckem, Christophe Blockeel, Maryse Bonduelle, Andrea Buysse, Mathieu Roelants, Greta Verheyen, Herman Tournaye, Frederik Hes, Florence Belva
HUMAN REPRODUCTION OPEN
(2021)
Article
Endocrinology & Metabolism
Alexandre Buffet, Juan Zhang, Heggert Rebel, Eleonora P. M. Corssmit, Jeroen C. Jansen, Erik F. Hensen, Judith V. M. G. Bovee, Aurelien Morini, Anne-Paule Gimenez-Roqueplo, Frederik J. Hes, Peter Devilee, Judith Favier, Jean-Pierre Bayley
Summary: By investigating unexplained PPGL cases, a novel variant in the DLST gene was identified and validated as an additional PPGL gene involved in the TCA cycle.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)